How to get ontology data for Open Targets Genetics?

I have run a GWAS that resulted in multiple novel hits. To check if those variants might already have some associations in Open Targets, I use the Open Targets Genetics API to download among others the PheWAS table with traits related to each variant. I would also like to get the ontology data for the traits such as the EFO information, but I have not been able to find it.

Could you advise me on how to get the ontology data if it is possible?

This query was sent to the Open Targets helpdesk and has been posted here so the answer can benefit the whole Community.


To get this information, you can use our Data Downloads. Our study index contains details of the studies in the genetics portal, including mapped EFO terms.

More information about the data downloads is available in our documentation: Data Download - Open Targets Genetics Documentation

Let me know if this helps!