gnomAD (population variant frequencies)

About this source

The Genome Aggregation Database from the Broad Institute. Get a gene’s constraint metrics (pLI, LOEUF), its observed variants with allele counts and frequencies per population, filtered by consequence, or one variant by rsID. CC0 data; the BY-NC SpliceAI annotation is not exposed.

Questions you can ask gnomAD

Type them into Kahubi’s chat once the source is connected.

What the assistant can do with it

The 3 tools this server offers to Kahubi. The assistant picks the right one for each question.

• gnomad_gene

  Gene summary: Ensembl id, coordinates, constraint metrics (pLI, LOEUF = oe_lof_upper, missense z) and ClinVar variants with significance and review stars.

• gnomad_gene_variants

  Observed gnomAD variants in a gene with allele counts and frequencies.

• gnomad_variant

  One variant by rsID (rs80357906) or gnomAD id (17-43057062-T-TG): exome and genome allele counts and frequencies, homozygotes, per-population frequencies, transcript consequences.

Good to know

• Hosted by Kahubi. Kahubi runs this server itself so it stays reliable enough for research use.
• Cited, checkable answers. Results are treated as retrieved material and cited with the source’s own identifiers, so you can open every record the answer relied on.
• Your files stay private. Only the search the assistant writes for your question is sent to gnomAD.

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