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Variant search using API #3

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DzvinkaYarish opened this issue Sep 17, 2024 · 2 comments
Open

Variant search using API #3

DzvinkaYarish opened this issue Sep 17, 2024 · 2 comments
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enhancement New feature or request

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@DzvinkaYarish
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Hello!

Thank you for a convenient tool! I'd also suggest extending the API by adding an option to retrieve variant information using its genomic coordinates. Currently, it only works with the db's internal variant id, which makes it impossible to screen a set of variants against the SpliceVarDB.

@pj-sullivan pj-sullivan added the enhancement New feature or request label Mar 20, 2025
@pj-sullivan
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Hi! I'll look into this, and I apologise for the delay in getting back to you. For now, I'd recommend downloading the file and formatting it for annotation as a VCF or a similar format. I could expand the API to query coordinates.

By "retrieve variant information", are you referring to 1) checking if the variant is present in SpliceVarDB or 2) accessing the additional validation information (doi, tissue, metric reported, etc.), which is currently only retrievable using variant_id as the parameter?

@DzvinkaYarish
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Hi! Thanks for responding to this issue. It would be ideal to be able to retrieve the list of variants with matching genomic coordinates and all additional information.

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