bio-clinical-databases-gnomad-frequencies

gnomAD REST API

Goal: Retrieve exome and genome allele frequencies from gnomAD for individual variants.

Approach: Send a GraphQL query to the gnomAD API with variant ID and dataset version, then parse exome/genome frequency fields.

"Check how common this variant is in the population" → Query gnomAD for allele frequency, allele count, and homozygote count.

• Python: GraphQL via requests.post() (requests)
• Python: myvariant.MyVariantInfo().getvariant() (myvariant)

Query via myvariant.info

Goal: Retrieve gnomAD frequencies through the myvariant.info aggregation layer for simpler API access.

Approach: Query myvariant.info by HGVS notation with gnomAD fields specified, extracting exome and genome allele frequencies.

Population-Specific Frequencies

Goal: Retrieve ancestry-specific allele frequencies to assess variant rarity within relevant populations.

Approach: Query the gnomAD population-stratified AF fields (AFR, AMR, ASJ, EAS, FIN, NFE, SAS) via myvariant.info.