Functional gene constraint scores from ExAC now available from

sync_sulab data release exac

With the publication of a new paper in Nature, the Exome Aggregation Consortium (ExAC) has received some much deserved attention on their open data/open access practice. ExAC variant annotation data has been available for awhile through; however, their functional gene constraint data doesn't fit well into model. Speaking of ExAC annotations in, check out the latest ExAC changes in this post.

ExAC also released a computed "functional gene constraint" metrics for each transcript containing variants from ExAC dataset. Since this is at transcript/gene level, we have now imported this data into, instead of (which is designed as variant-specific). You can now access ExAC's latest release of functional gene constraint data from our v3 API of (under the field of exac). You can find out the definitions of all sub-fields under exac, or learn more about the functional gene constraint data from their FAQ and README files.

Ready to try pulling this new data? Try the following query examples:

If you use our python client, you'll be pleased to know that the most recent update of our client also enables you to run similar queries.

Python example:

In [1]: import mygene

In [2]: mg = mygene.MyGeneInfo()

In [3]: mg.getgene(1017, fields='exac')
In [4]: mg.getgene('ENSG00000153230', fields='exac')
In [5]: mg.query('exac.transcript:ENST00000266970', fields='exac')

Just want to mention again this new exac field is only available from our v3 API, not available from the still-live v2 API. Just another reason to switch to v3 API now :-).