Last week, the Exome Aggregation Consortium published a new paper in Nature that was celebrated by open access and open data enthusiasts alike. You can read more about why the publication was a win for open-everything in this blog post from the MacArthur lab.

Given that ExAC annotation data has been available via MyVariant.info since early, we can attest to their commitment to sharing. In fact, we have a few ExAC-related updates of our own to share--made possible by ExAC's data sharing policies.

First, we recently updated ExAC data on myvariant.info with their latest 0.3.1 release (from 0.3.0). You can now access allele counts and allele numbers among male and female groups (fields: exac.ac.ac_male/exac.ac.ac_female and exac.an.an_male/exac.an.an_female). Second, we now also included the annotation data from ExAC nonTCGA subset, under exac_nontcga field. This field has the same data structure as the full ExAC data, but the values were calculated based on a ExAC subset excluding TCGA samples.

A few query examples here:

• Get ExAC allele count and allele number for a given variant:

http://myvariant.info/v1/variant/chr4:g.9274470G>T?fields=exac.ac,exac.an

• You can also make queries on ac or an fields:

http://myvariant.info/v1/query?q=exac.ac.ac_female:>10000&fields=exac.ac,exac.an

http://myvariant.info/v1/query?q=exac.an.an_male:<10&fields=exac.ac,exac.an

• Get ExAC nonTCGA data for a given variant:

http://myvariant.info/v1/variant/chr4:g.86102_86103insG?fields=exac_nontcga

• Make queries on exac_nontcga field:

  Get all rare (af<0.00001) variants on BRCA2 gene based on ExAC nonTCGA subset:

  http://myvariant.info/v1/query?q=exac_nontcga.af:<0.00001 AND snpeff.ann.genename:BRCA2&fields=exac_nontcga

Enjoy!

P.S. Looking for ExAC functional gene constraint data? You can now get it from our MyGene.info API.