Assistance with Querying Non-Synonymous Variants for Specific Transcript ID

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Dear gnomAD Team,

I hope this message finds you well.

I am currently working on a project that involves analyzing non-synonymous variations for specific transcript IDs. (i.e given a transcript ENST00000624687) I am interested in retrieving this data, along with overall allele frequencies and subpopulation-specific frequencies. Your database appears to be an excellent resource for this purpose!

Could you kindly advise me on the best way to query this information programmatically? Additionally, if there are any resources or documentation available on the GraphQL schema for these types of queries, I would greatly appreciate it!

Thank you very much for your time and assistance.

Best regards,
Lucas C.

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Hi Lucas – how many transcripts do you plan to retrieve? If a small number, there is a CSV download button on each transcript page. If a medium number (e.g. 100s to 1000), the API might be a good option. If more, we’d suggest using Hail to get what you want. We’re releasing some new hail tables soon that could be useful for this (see: Release browser hail tables by rileyhgrant · Pull Request #1583 · broadinstitute/gnomad-browser · GitHub).

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Hi Matt,

I’ll be looking to access on the order of 1 to 5k records, so I’ll go through the Hail route as you suggested!

Thanks for the support!

Best,
Lucas