cancervariants / gene-normalization

Services and guidelines for normalizing genes
https://gene-normalizer.readthedocs.io/latest/
MIT License
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Search genes by location #368

Open korikuzma opened 3 months ago

korikuzma commented 3 months ago

Feature description

Add endpoint to search for gene(s) given chr/assmebly or accession and start/end coordinates.

Use case

This would be a nice feature to have for VarCat/Variation Normalizer. We need to update Variation Normalizer genomic GRCh38 -> protein endpoint to include the associated gene context. My first approach was to just use MANE data. However, not all genes are included in MANE data.

Proposed solution

Create a GET /gene/search/locations endpoint or something similar that will search for genes given location coordinates.

Alternatives considered

I thought about using UTA, but I think we'd run into issues where genes live in intronic space before first exon and after last exon. I talked with @jarbesfeld and he seems to agree.

Implementation details

No response

Potential Impact

I think we'll have to add new GSI in DynamoDB

Additional context

No response

Contribution

Yes, I can create a PR for this feature.