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Cortexa research tool·genomics·ensembl_variation_ext

EnsemblVar Get Population Frequencies

Get allele frequency data for a variant (SNP/indel) across global populations from gnomAD and 1000 Genomes via Ensembl. Returns allele frequencies broken down by population (e.g., gnomADe:ALL, gnomADe:nfe, 1000GENOMES:phase_3:CEU, etc.). Essential for assessing variant rarity in different ethnic groups, interpreting clinical significance, and population genetics studies. Example: rs429358 (APOE epsilon-4 allele) shows C allele frequency of 14.8% globally (gnomAD), 22.7% in African populations,…

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Overview

Get allele frequency data for a variant (SNP/indel) across global populations from gnomAD and 1000 Genomes via Ensembl. Returns allele frequencies broken down by population (e.g., gnomADe:ALL, gnomADe:nfe, 1000GENOMES:phase_3:CEU, etc.). Essential for assessing variant rarity in different ethnic groups, interpreting clinical significance, and population genetics studies. Example: rs429358 (APOE epsilon-4 allele) shows C allele frequency of 14.8% globally (gnomAD), 22.7% in African populations, 9.8% in East Asian populations.

Schema

JSON Schema the agent (or your API call) must match.

JSON · 16 lines · 384 chars

Examples (1)

Default EnsemblVar Get Population Frequencies call

public-safeinput
JSON · 3 lines · 22 chars
Expected response keys: success

Anonymous-safe example. Rate-limited; no sign-in required.

Identifiers

Catalog ID
tu_EnsemblVar_get_population_frequencies
Tool name
EnsemblVar_get_population_frequencies
Added
2026-05-01 00:58Z
Tags
tooluniverse
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