tooluniverse.tools.gnomAD_query_variant module

gnomAD_query_variant

Query gnomAD GraphQL for a variant in a dataset (returns ID and genome allele counts/frequency).

tooluniverse.tools.gnomAD_query_variant.gnomAD_query_variant(variant_id, dataset='gnomad_r4', *, stream_callback=None, use_cache=False, validate=True)

Query gnomAD GraphQL for a variant in a dataset (returns ID and genome allele counts/frequency).

Parameters:

• variant_id (str) – Variant ID like ‘1-230710048-A-G’.

• dataset (str) – Dataset ID (e.g., gnomad_r4).

• stream_callback (Callable, optional) – Callback for streaming output

• use_cache (bool, default False) – Enable caching

• validate (bool, default True) – Validate parameters

Return type:

dict[str, Any]