[ensembl-dev] VEP Extra output information

Will McLaren wm2 at ebi.ac.uk
Wed Apr 24 12:51:35 BST 2013


See:

http://www.ensembl.org/info/docs/variation/vep/vep_formats.html#vcf

Will


On 24 April 2013 12:40, Guillermo Marco Puche <
guillermo.marco at sistemasgenomicos.com> wrote:

>  Hello,
>
> It seems this has something to annotation format:
>
> I've modified the line to look like this:
>
> chr1    35246849    .    -    C    1000    .    data2
>
> I removed *.gz and index files.
>
> Re-indexed with the following commands:
>
> bgzip -c tabix_test.vcf > tabix_test.vcf.gz
>
> tabix -p vcf tabix_test.vcf.gz
>
>
> And when running VEP I get this error:
>
> WARNING: Alleles look like an insertion (-/C) but coordinates are not
> start = end + 1 (START=35246849, END=35246849) on line 2
>
>
> On 04/24/13 13:24, Guillermo Marco Puche wrote:
>
> Hello,
>
> I'm confused. I've found a bug into my plugin.
>
> This is my input vcf file sample:
>
> #CHROM    POS    ID    REF    ALT    QUAL    FILTER    INFO    FORMAT
> DATA
> chr1    6520668    .    A    C    1000    .    data1
> *chr1    35246848    .    G    GC    1000    .    data2*
> chr1    35247292    .    A    G    1000    .    data1
>
>
> This line "*chr1    35246848    .    G    GC    1000    .    data2"* is
> making my plugin fail.
> I've noticed that printing
>
> my $pos_string = sprintf("chr%s:%i-%i", $vf->{chr}, $vf->{start}, $vf->{end});
>
> Results in this for that line: chr1:35246849-35246848
>
> How is this possible? That start position is one position ahead of end?
>
> Best regards,
> Guillermo.
>
> -------- Original Message --------  Subject: Re: [ensembl-dev] VEP Extra
> output information  Date: Tue, 23 Apr 2013 09:48:00 +0200  From: Guillermo
> Marco Puche <guillermo.marco at sistemasgenomicos.com><guillermo.marco at sistemasgenomicos.com>  Organization:
> Sistemas Genómicos  To: dev at ensembl.org
>
> Hello,
>
> Ok finally fixed it !
>
> The problem was that my input VCF file had first column in this format:
> chr2 and not just the number.
> Fixed it changing the following line on the script:
>
> my $pos_string = sprintf("chr%s:%i-%i", $vf->{chr}, $vf->{start}, $vf->{end});
>
>
> Thank you so much Will.
> Now I'm pretty sure that my next plugins will be easier to develop !
>
> I still think that plugin documentation should be extended on Ensembl
> website, it's not that easy to get started ;)
>
> Once again thank you very much.
>
> Best regards,
> Guillermo.
>
> On 04/23/13 09:27, Guillermo Marco Puche wrote:
>
> Hello,
>
> I edited the code so it match exactly the way you handled input file and
> tabix in dbNSFP plugin.
> You can check code on GIT repo:
> https://github.com/guillermomarco/vcf_input/blob/master/vcf_input.pm
>
> It still won't iterate over TABIX file. Both variables $pos_string
> (2:26739423-26739423) and $file(myfile.vcf.gz) have correct values during
> execution. The only thing that differs from your script is that I'm not
> extracting HEAD for Tabix since I don't need it.
>
> Maybe something is wrong with my input file since plugin is being executed
> but output is empty because it doesn't iterate file over TABIX file handler.
>
> I've compressed and indexed it with the following commands previously:
>
> bgzip -c test.vcf > test.vcf.gz
>
> tabix -p vcf test.vcf.gz
>
>
> Thank you.
>
> Best regards,
> Guillermo.
>
> On 04/22/13 18:09, Guillermo Marco Puche wrote:
>
> Hello Will,
>
> After applying your fixes there's still no output.
>
> Something must be wrong with TABIX file handler. $pos_string seems
> correct, i've been printing on screen the values and they seem correct :)
>
> On the other hand "while TABIX" loop is not being executed. It never
> iterates through this loop. But there's also no error with file handler. So
> I don't know what is wrong.
>
> Guillermo.
>
> On 04/22/13 17:56, Will McLaren wrote:
>
> A couple of other bugs I've spotted - you've got some variables being
> declared in the wrong scope which means you won't get anything in your
> results. Your run method should look like:
>
> sub run {
> my ($self, $tva) = @_;
> my $vf = $tva->variation_feature;
> my $pos_string = sprintf("%s:%i-%i", $vf->{chr}, $vf->{start}, $vf->{end});
>
> #my $fichero = "test.vcf";
>
> my $info;
>
> open TABIX, sprintf("tabix %s %s |", $self->{file}, $pos_string);
> #open TABIX file handler for current position
> while(<TABIX>){
> chomp;
> if (my $line =~ /^#/){ next; } #skip header line
> my @split = split /\t/;
> $info = $split[7]; #store 8th column (INFO)
> }
> close TABIX; #close TABIX file handler
>
>     return {
>     "SAMPLES" => $info,
>     };
> }
>
> On 22 April 2013 16:38, Will McLaren <wm2 at ebi.ac.uk> <wm2 at ebi.ac.uk> wrote:
>
>  You need to store the file name on the object itself. In the new method, replace
>
> my $file = $self->params->[0];
>
> with
>
> $self->{file} = $self->params->[0];
>
> Will
>
> On 22 April 2013 16:33, Guillermo Marco Puche<guillermo.marco at sistemasgenomicos.com> <guillermo.marco at sistemasgenomicos.com> wrote:
>
>  Hello,
>
> Thank you for that information Will. It's so useful.
>
> Ok I've managed to almost finish the plugin:https://github.com/guillermomarco/vcf_input/blob/master/vcf_input.pm
>
> I'm still getting an error with sprintf when trying to run it with VEP.
>
> 2013-04-22 17:18:07 - Warning: plugin
> vcf_input,/home/likewise-open/SGNET/gmarco/scripts/genomics/global/annotation/ensembl71/VCF_Input/test.vcf.gz
> version (0.1) does not match the current VEP version (71)
> 2013-04-22 17:18:07 - You may experience unexpected behaviour with this
> plugin
> 2013-04-22 17:18:07 - Loaded plugin: vcf_input
> 2013-04-22 17:18:07 - Output fields redefined (26 defined)
> 2013-04-22 17:18:09 - INFO: Database will be accessed when using --hgvs
> 2013-04-22 17:18:09 - Starting...
> 2013-04-22 17:18:09 - Read 3 variants into buffer
> 2013-04-22 17:18:09 - Reading transcript data from cache and/or database
> [===============================================]  [ 100% ]
> 2013-04-22 17:18:09 - Retrieved 74 transcripts (0 mem, 74 cached, 0 DB, 0
> duplicates)
> 2013-04-22 17:18:09 - Reading regulatory data from cache and/or database
> [===============================================]  [ 100% ]
> 2013-04-22 17:18:09 - Retrieved 539 regulatory features (0 mem, 539 cached,
> 0 DB, 0 duplicates)
> 2013-04-22 17:18:09 - Calculating consequences
> [>                                              ]    [ 5% ]
> ERROR: Forked process failed
> Use of uninitialized value in sprintf at
> /home/likewise-open/SGNET/gmarco/.vep/Plugins/vcf_input.pm line 69.
>
> Thank you.
>
> Best regards,
> Guillermo.
>
> On 04/22/13 14:34, Will McLaren wrote:
>
> Hello,
>
> The plugin is run once for each combination of variant and overlapped
> feature.
>
> Let's say your variant overlaps 4 transcripts (they may be splice
> variants of the same gene, or 4 different genes, the principal is the
> same). In this case, the plugin's "run" method will be executed 4
> times for that variant, once for each transcript. The $tva
> TranscriptVariationAllele object in each run will have a different
> transcript "attached" to it. I'd recommend stepping through how a
> plugin works using Perl's debugger - simply add the line:
>
> $DB::single = 1;
>
> somewhere at the start of the run method, then run the vep with perl's -d
> flag:
>
> perl -d variant_effect_predictor.pl [etc]
>
> I'm not sure, but it seems like you're preloading all of the VCF in
> your plugin at the beginning, and then trying to add the info one at a
> time. This is not an ideal way to do it, as for large VCF files you
> may run in to memory usage issues, and especially using an array you
> may not be able to reliably link the lines from your VCF to the lines
> of input going into the VEP (a hash keyed on position would be much
> better).
>
> A much better way to do it would be to prepare the VCF file with
> tabix. The tabix utility can then retrieve just the relevant line from
> the VCF on demand (this is very quick, and you can cache data on the
> plugin's hash structure between separate executions of the "run"
> method).
>
> In the dbNSFP.pm plugin on GitHub, I do something very very similar to
> this. First, I get the variation feature object being passed to the
> "run" method - this contains the genomic coordinates of the current
> variant:
>
> my $vf = $tva->variation_feature;
>
> I then create a string to pass to tabix, which is chr:start-end; this
> means tabix will retrieve the lines from your VCF in that range:
>
> my $pos_string = sprintf("%s:%i-%i", $vf->{chr}, $vf->{start}, $vf->{end});
>
> I then run tabix and open the output as a pipe:
>
> open TABIX, sprintf("tabix %s %s |", $self->{file}, $pos_string);
>
> I can then read lines of VCF from the <TABIX> filehandle, parse them,
> and finally add the data to the %return hash that gets sent back at
> the end of the plugin.
>
> This return hash must contain key/value pairs that will be printed in
> the output. For example, lets say I want to add the variant name from
> the VCF file I've just parsed:
>
> return {
>   "VAR_NAME" => $var_name,
> }
>
> where $var_name = 'rs123'. Then in the output you would see (normal,
> tab-delimited):
>
> VAR_NAME=rs123
>
> appear in the Extra column of your output file. You could add multiple
> values for VAR_NAME, but you'd have to write that as a string, for
> example:
>
> return {
>   "VAR_NAME" => join(",", ($var_name1, $var_name2)),
> }
>
> which would give you e.g.
>
> VAR_NAME=rs123,rs456
>
> I'm afraid also at this juncture I have to point out that I'm nearing
> the limit of support I'm meant to be giving out to one individual.
> While we are here to help and will answer any reasonable questions you
> have, we have to stop short of doing people's jobs for them! Anything
> more than a base level of help might have to be considered as a
> collaboration, and this would require communication between our
> respective supervisors.
>
> I hope that the documentation on the website and the example code
> (which we try to comment as thoroughly as we can) should be enough to
> keep you going, and of course I don't want to put you off using and
> helping us improve the VEP.
>
> Regards
>
> Will
>
> On 22 April 2013 12:59, Guillermo Marco Puche<guillermo.marco at sistemasgenomicos.com> <guillermo.marco at sistemasgenomicos.com> wrote:
>
> Hello,
>
> I'm starting to develop a simple plugin to write the INFO column from VCF
> input into VEP output.
> As far as I've been seen in Git VEP Plugin repo, VEP script will right the
> value returned by the plugin in run function.
>
> Suppose that I've an array of values with the INFO column. Something like
> this:
> my @info_column = ("info_row1","info_row2","info_row3")
>
> An array containing the content of INFO column for each line of VCF input.
> How do I associate each value to the corresponding VEP line output?
> I guess I cannot simply return the array as the result of my plugin.
>
> Is plugin executed for every line by VEP script?
>
>
> Thank you.
>
> Best regards,
> Guillermo.
>
> On 04/22/13 12:07, Guillermo Marco Puche wrote:
>
> Hello,
>
> Me neither. So I've no clue. I hope someone else can help me.
>
> I've also been looking the plugin code you mentioned.
> I don't really see how to extract the columns from input VCF and intersect
> them with VEP output.
>
> Regards,
> Guillermo.
>
> On 04/22/13 12:01, Will McLaren wrote:
>
> Hello,
>
> I haven't used VCFannotate myself, perhaps I was wrong!
>
> I know of other VEP users who have used it though, maybe someone on
> the list will read this email and can give you some help.
>
> Cheers
>
> Will
>
> On 22 April 2013 10:58, Guillermo Marco Puche<guillermo.marco at sistemasgenomicos.com> <guillermo.marco at sistemasgenomicos.com> wrote:
>
> Hello Will,
>
> It seems VCFannotate is made for "Intersect the records in the VCF file with
> targets provided in a BED file.".
> How I'm supposed to intersect the output from vep script (VCF or VEP file)
> with my input file VCF?
>
>
> Thank you.
>
> Best regards,
> Guillermo.
>
> On 04/19/13 11:31, Will McLaren wrote:
>
> Hi Guillermo,
>
> The --custom system doesn't quite work like that. Currently it is set
> up to either provide only the ID or the coordinates of any features it
> finds overlapping your variants in the custom file. It can't pull
> particular fields from a VCF in the way you describe here.
>
> To do so, you'd either have to write a plugin to do this (see the
> dbNSFP.pm plugin for an example of doing similar), or use VCFannotate,
> which I believe can do this sort of thing out of the box.
>
> Regards
>
> Will
>
> On 19 April 2013 07:42, Guillermo Marco Puche<guillermo.marco at sistemasgenomicos.com> <guillermo.marco at sistemasgenomicos.com> wrote:
>
> Hello,
>
> I'm trying to get the following fields from the VCF input with the --custom
> flag.
> I want to add the following columns to the VEP output file:
>
> #CHROM        POS     ID      REF     ALT     QUA
>
> From what I've been reading this is possible to achieve using custom flag
> and VCF input, since third column is used as identifier (ID, ie: rs6054257)
>
>
> I've been trying with the following command:
>
> ./variant_effect_predictor.pl -i myinput.vcf.gz -format vcf -o myoutput.vep
> --cache --everything --maf_1kg --force_overwrite --plugin
> Condel,/home/likewise-open/SGNET/gmarco/.vep/Plugins/config/Condel/config,b
> --custom myinput.vcf.gz,CHROM,vcf,exact,0 --fields
> CHROM,Existing_variation,AFR_MAF,AMR_MAF,ASN_MAF,EUR_MAF,GMAF,Feature,Feature_type,HGVSc,HGVSp,Consequence,Domains,MOTIF_NAME,MOTIF_POS,HIGH_INF_POS,Condel,SIFT,Polyphen,Cell_Type,Canonical,CCDS,Intron,Exon
>
> I got an output like this:
>
> #CHROM    Existing_variation    AFR_MAF    AMR_MAF    ASN_MAF    EUR_MAF
> GMAF    Feature    Feature_type    HGVSc    HGVSp    Consequence    Domains
> MOTIF_NAME    MOTIF_POS    HIGH_INF_POS    Condel    SIFT    Polyphen
> Cell_Type    Canonical    CCDS    Intron    Exon
>
> 1:6500735-6500735    -    -    -    -    -    -    NM_031475.2    Transcript
> NM_031475.2:c.725C>T    NP_113663.2:p.Thr242Ile    missense_variant    -
> -    -    -    deleterious(0.765)    deleterious(0.03)    -    -    -    -
> -    -
> 1:6501044-6501044    rs2311045    0.28    0.12    0.21    0.13    G:0.1822
> ENSR00000074413    RegulatoryFeature    -    -    regulatory_region_variant
> -    -    -    -    -    -    -    -    -    -    -    -
> 1:6501044-6501044    rs2311045    0.28    0.12    0.21    0.13    G:0.1822
> CCDS70.1    Transcript    CCDS70.1:c.909C>G    CCDS70.1:c.909C>G(p.=)
> synonymous_variant    -    -    -    -    -    -    -    -    -    CCDS70.1
> -    -
>
> Position being show in CHROM column makes no sense to me if it's the key
> identifier. If you're using the "exact" configuration in custom flag with no
> overlapping why it's an interval shown?
>
> I would like that POS being shown in a second column called POS like in
> original VCF and so on with the rest of custom missing fields. Output format
> would be:
>
> #CHROM        POS     ID      REF     ALT     QUA     Existing_variation    AFR_MAF    AMR_MAF
> ASN_MAF    EUR_MAF    GMAF    Feature    Feature_type    HGVSc    HGVSp
> Consequence    Domains    MOTIF_NAME    MOTIF_POS    HIGH_INF_POS    Condel
> SIFT    Polyphen    Cell_Type    Canonical &nbs
>  p;
> CCDS    Intron    Exon
> chr1  6501044 rs2311045 0.28    0.12    0.21    0.13    G:0.1822
> ENSR00000074413    RegulatoryFeature    -    -    regulatory_region_variant
> -    -    -    -    -    -    -    -    -    -    -    -
>
> I've been experiencing errors if I try with the following custom flag:
> --custom myinput.vcf.gz,CHROM,POS,ID,REF,ALT,QUA,vcf,exact,0
> I've no idea how to are more than one custom flag at a time, or not even if
> this is possible. What would be the correct way to do this?
>
>
> Thank you.
>
> Best regards,
> Guillermo.
>
> On 04/18/13 13:55, Guillermo Marco Puche wrote:
>
> Hello,
>
> --fields command is working flawlessly ! I love it. It has saved me so much
> work.
>
> ./variant_effect_predictor.pl -i
> /home/likewise-open/SGNET/gmarco/VEP_71/in/Oto2_collect_not_annotated.vcf -o
> /home/likewise-open/SGNET/gmarco/VEP_71/out/output.fields -format vcf
> --cache --everything --maf_1kg --force_overwrite --fork 2 --plugin
> Condel,/home/likewise-open/SGNET/gmarco/.vep/Plugins/config/Condel/config,b
> --fields
> Existing_variation,AFR_MAF,AMR_MAF,ASN_MAF,EUR_MAF,GMAF,Feature,Feature_type,HGVSc,HGVSp,Consequence,Domains,MOTIF_NAME,MOTIF_POS,HIGH_INF_POS,Condel,SIFT,Polyphen,Cell_Type,Canonical,CCDS,Intron,Exon
>
>
> Now I need to figure out how to create a final output file which is the
> relation of VCF input (Chromosome, Position, Ref_Allele, Var_Allele) with
> the VEP output. To display all variants info for each chromosome.
>
> Guillermo.
>
> On 04/18/13 10:40, Will McLaren wrote:
>
> Hello,
>
> The only way to do this would be to specify each Extra column as a
> separate column using --fields.
>
> Will
>
> On 18 April 2013 08:29, Guillermo Marco Puche<guillermo.marco at sistemasgenomicos.com> <guillermo.marco at sistemasgenomicos.com> wrote:
>
> Hello,
>
> Finally I'm not going to use VCF format as output.
> From original input VFC I need to print into my output Chromosome, Position,
> Ref_Allele and Var_Allele columns.
>
> I prefer standard VEP column tabbed file for output, since it's much easier
> to parse "Extra" column because all extra parameters are delimited by ";".
> Is there any way to force VEP to print empty extra parameters?
>
> ie:
>
> 1_6508122_G/C    1:6508122    C    ENSESTG00000022320    ENSESTT00000056337
> Transcript    downstream_gene_variant    -    -    -    -    -    rs11808508
> AFR_MAF=;DISTANCE=2305;GMAF=;ASN_MAF=;EUR_MAF=;ENSP=ENSESTP00000056337;CANONICAL=YES;AMR_MAF=
>
> Or simply fill print empty extra empty fields with =EMPTY.
>
>
> Thank you.
>
> Best regards,
> Guillermo.
>
> On 04/17/13 16:53, Guillermo Marco Puche wrote:
>
> Again, thank you so much !
>
> I'm looking further VCFTools, maybe it should be the easiest and standard
> way to parse VCF output from VEP.
>
> Thank you.
>
> Best regards,
> Guillermo.
>
> On 04/17/13 16:50, Will McLaren wrote:
>
> Yes, you can customise the fields used and the order they appear in
> with --fields; this applies to both VCF and the normal tab-delimited
> output.
>
> The delimiter is hardcoded I'm afraid, but I'm not sure what you'd
> pick if you did decide to change it. ";" and "," are already used by
> the VCF spec, and ":" appears in HGVS notations and other fields.
>
> If you did want to change it, you'd just need to edit lines 1272 and
> 1275 of ensembl-variation/modules/Bio/EnsEMBL/Variation/Utils/VEP.pm.
>
> Will
>
>
>
> On 17 April 2013 15:32, Guillermo Marco Puche<guillermo.marco at sistemasgenomicos.com> <guillermo.marco at sistemasgenomicos.com> wrote:
>
> Hello Will,
>
>
> On 04/17/13 14:46, Will McLaren wrote:
>
> Hello,
>
> It's difficult (well, in fact impossible) to provide an example where
> every field is populated, since some field types are mutually
> exclusive dependent on the feature type overlapped (for example, you
> will never see the CELL_TYPE field populated for a variant/transcript
> combination).
>
> If you are interested in this for the purposes of how it looks for a
> parser, you really want to be looking at the header line added to the
> VCF by the VEP:
>
> ##INFO=<ID=CSQ,Number=.,Type=String,Description="Consequence type as
> predicted by VEP. Format:
> Allele|Gene|Feature|Feature_type|Consequence|cDNA_position|CDS_position|Protein_position|Amino_acids|Codons|Existing_variation|EXON|INTRON|HGNC|MOTIF_NAME|MOTIF_POS|HIGH_INF_POS|MOTIF_SCORE_CHANGE|DISTANCE|CLIN_SIG|CANONICAL|SIFT|PolyPhen|GMAF|ENSP|DOMAINS|CCDS|HGVSc|HGVSp|CELL_TYPE|BLOSUM62|CAROL|Conservation|LinkedVariants|INTERPRO|TSSDistance">
>
> This lists the fields that are added in order. Using this you should
> be able to parse what appears in the body of the file.
>
> Here's an example using a bunch of plugins and with the "--everything"
> flag switched on:
>
> ##INFO=<ID=CSQ,Number=.,Type=String,Description="Consequence type as
> predicted by VEP. Format:
> Allele|Gene|Feature|Feature_type|Consequence|cDNA_position|CDS_position|Protein_position|Amino_acids|Codons|Existing_variation|EXON|INTRON|HGNC|MOTIF_NAME|MOTIF_POS|HIGH_INF_POS|MOTIF_SCORE_CHANGE|DISTANCE|CLIN_SIG|CANONICAL|SIFT|PolyPhen|GMAF|ENSP|DOMAINS|CCDS|HGVSc|HGVSp|CELL_TYPE|BLOSUM62|CAROL|Conservation|LinkedVariants|INTERPRO|TSSDistance">
> #CHROM  POS     ID      REF     ALT     QUAL    FILTER  INFO
> 21      26960070        rs116645811     G       A       .       .
>
> CSQ=|||||||||||||||||||||||||||||||||||,A|ENSG00000154719|ENST00000352957|Transcript|intron_variant||||||rs116645811||9/9|MRPL39||||||||||A:0.0005|ENSP00000284967||CCDS13573.1|ENST00000352957.4:c.969+1077C>T|||||0.840||ENSP00000284967|,A|ENSG00000154719|ENST00000307301|Transcript|missense_variant|1043|1001|334|T/M|aCg/aTg|rs116645811|10/11||MRPL39|||||||YES|tolerated(0.06)|benign(0.001)|A:0.0005|ENSP00000305682|Low_complexity_(Seg):Seg|CCDS33522.1|ENST00000307301.7:c.1001C>T|ENSP00000305682.7:p.Thr334Met||-1|Neutral(0.940)|0.840||ENSP00000305682|
>
> I like this. It won't be so hard to parse it.
>
> I've I'm not wrong I can even choose the field order with "--fields" flag.
> Is this only working for regular VEP column tabbed output file? Does it work
> with VCF output also?
>
> The only thing I don't like is that delimiter being "|" character is also
> used to fill empty fields. It would be great to change delimiter to another
> special character so parsing is much easier.
>
>
> Thank you.
>
> Best regards,
> Guillermo.
>
> This is from input:
>
> #CHROM  POS     ID      REF     ALT     QUAL    FILTER  INFO
> 21      26960070        rs116645811     G       A       .       .       .
>
> using the command line:
>
> perl variant_effect_predictor.pl -i test.txt -force -database
> -everything -vcf -plugin Blosum62 -plugin Carol -plugin Conservation
> -plugin LD -plugin ProteinDomains -plugin TSSDistance
>
> Hope this is a bit clearer!
>
> Will
>
> On 17 April 2013 11:25, Guillermo Marco Puche<guillermo.marco at sistemasgenomicos.com> <guillermo.marco at sistemasgenomicos.com> wrote:
>
> Hello,
>
> I'm looking for an example *.vcf output with ALL the "Extra" parameters.
> I've generated some with VEP script but i'm missing some extras never being
> generated like HGNC.
>
> A few lines VCF with all values would be enough, since i'm planning to parse
> "Extra" column.
>
> It also would be great if it includes most of the plugins outputs also :)
>
> Thank you :)
>
> Best regards,
> Guillermo.
>
>
> On 04/16/13 18:00, Guillermo Marco Puche wrote:
>
> On 04/16/13 14:49, Will McLaren wrote:
>
> Hi Guillermo,
>
> There's two distinct ways you can add additional data to the output
> from the VEP.
>
> 1) Custom annotations - here you simply provide the VEP with a
> tabix-indexed position-based data file, and the VEP does the work of
> finding overlaps with your variant input and the data from the file.
>
> 2) Plugins - you write the code to add to or manipulate the internal
> data structures used by the VEP. In its simplest form, a plugin can be
> simply looking up an attribute of some object and adding it to the
> output.
>
> Writing a plugin requires a basic understanding of the Ensembl API,
> but getting a basic plugin working requires only a very small amount
> of code.
>
> Since additional data is being obtained from multiple sources, APIs, files,
> etc.. I guess plugins are the only way to go for me.
>
> The documentation
> (http://www.ensembl.org/info/docs/variation/vep/vep_script.html#plugins)
> explains all of this, but the best way to see how plugins work is to
> look at the existing plugins athttps://github.com/ensembl-variation/VEP_plugins. I'd suggest looking
> at Conservation.pm and ProteinSeqs.pm as some relatively simple
> examples of retrieving additional data from the API.
>
> Where are packages like package Conservation; comming from?
>
> You should note that using VCF output you will see repeated elements
> in the INFO field added, since the plugin gets run once for every
> variant/transcript overlap; all data appear under the CSQ field in the
> INFO column. Currently there is no way for the VEP via plugins to add
> separate INFO fields, however this is something we are looking into,
> and in fact would be relatively easy to "hack" in for someone
> determined enough (see subroutine vf_list_to_cons in
> Bio::EnsEMBL::Variation::Utils::VEP).
>
> I'll look further into this tomorrow since I've to go now.
>
> A workaround could be simply generating a temp file with extra columns and
> in the end merge original VCF from VEP script with the output from plugins
> for additional columns.
>
> Maybe I missunderstood you. Correct me if i'm wrong please.
>
> Hope this helps, and feel free to ask further questions!
>
> Will McLaren
> Ensembl Variation
>
> Thank you so much.
>
> Best regards,
> Guillermo.
>
> On 16 April 2013 12:58, Guillermo Marco Puche<guillermo.marco at sistemasgenomicos.com> <guillermo.marco at sistemasgenomicos.com> wrote:
>
> Hello,
>
> I'm in need to develop some extra features for VEP.
>
> My input files are in VCF format and also my output.
>
> But I want to add several additional columns for extra data at the VCF out.
>
> For example,AA conservation score, Biobase description, Biobase link, MAF
> populations, Flanking sequence, Gene description, InterPro_ID and more..
>
> I've been reading the documents and I'm a bit confused about "Custom
> annotations".
> I think since the data I want is extra on the output and not in the input,
> what I should do is develop several Plugins to obtain all the values I need.
>
> I think most of them can be obtained through the Ensembl API even if I'm new
> to this. Other will require more hard coding.
>
> I hope someone can clarify me a bit on this matter.
>
> Thank you.
>
> Best regards,
> Guillermo.
>
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