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biothings / myvariant.info

MyVariant.info: A BioThings API for human variant annotations
http://myvariant.info
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Deletion not found #101

Closed GustawEriksson closed 4 years ago

GustawEriksson commented 4 years ago

Hi myVariantInfo!

I am getting a 404 error code when I query the deletion chr9:g.136419598del where a single nucleotide is deleted. I have tried two different approaches but none has been of success:

http://myvariant.info/v1/variant/chr9:g.136419598_136419599del http://myvariant.info/v1/variant/chr9:g.136419598del

Can you please explain what I am doing wrong here?

Thanks for your great work!

kevinxin90 commented 4 years ago

@GustawEriksson You're doing right. The query syntax is correct. It's just MyVariant.info doesn't contain annotation data for every single variant. It aggregates existing annotation data from sources listed here. If you do find that this variant is present in one of these resources but not in MyVariant, pls let us know and we will see what's going wrong in our data ingestion pipeline. Thanks.

GustawEriksson commented 4 years ago

Ah ok! Thanks for the help @kevinxin90 !