First, thank you for the amazing gnomAD project — it is an essential resource for all of us working with variants!
The problem of understanding different HGVS representations, including RefSeq transcripts and HGVS consequences, could potentially be solved quite easily with the GeneBe API.
SpliceAI Lookup already uses GeneBe for fast HGVS parsing and conversion, and the integration can even be done entirely client-side.
If gnomAD is interested, I’d be very happy to help with the integration — for example by including adding the gnomAD domain to CORS.
For context, this is what prompted my post:
“We received feedback from several users requesting more flexible variant search nomenclature in the browser (e.g., enabling search for variants using HGVS consequence or RefSeq transcript IDs). We recognize that implementing support for different nomenclatures is important, but this would require significant changes to the search logic and possibly a complete redesign, that our team does not have bandwidth to complete at this time.”
Best,
Piotr