[ensembl-dev] gnomAD MAFs not returned over the REST API for some variants

Jonathan Stoppani jonathan at stoppani.name
Thu May 17 09:56:04 BST 2018


Hello,

I'm trying to retrieve the allele frequencies for different variants and
for different databases.
I'm using the /vep/human/id/ REST endpoint and it mostly works fine.

I have, however, trouble retrieving the gnomAD frequencies for some
variants. Interestingly, the web interface reports them as we would expect,
but they are not present in the JSON payload returned by the REST API call.

One such example:

Variant identifier: rs901011140
Variant location: 1:955277

Variant data on gnomAD:
http://gnomad.broadinstitute.org/variant/1-955277-G-C
Note that they don't have the dbSNP identifier on file (not found in dbSNP).

Variant data on Ensembl web:
http://grch37.ensembl.org/Homo_sapiens/Variation/Population?v=rs901011140
Note that the AFs are correctly mirroring what's being reported on gnomAD.

Variant data fetched over the REST API:
http://grch37.rest.ensembl.org/vep/human/id/rs901011140?content-type=application/json
Note that MAFs are not being returned at all.

Am I doing something wrong? Are the AFs not being returned on the API
endpoint for a particular reason?

Thank you very much for your help!

Best,
Jonathan

P.S.: GRCh38 yields the same results:
http://rest.ensembl.org/vep/human/id/rs901011140?content-type=application/json
http://www.ensembl.org/Homo_sapiens/Variation/Population?v=rs901011140
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