gnomAD API
Population genetics as an API, powered by the Broad Institute's gnomAD (Genome Aggregation Database) — allele frequencies and gene constraint aggregated from over 800,000 human exomes and genomes. Look up a gene's constraint scores (pLI, LOEUF, observed vs expected loss-of-function, missense Z) and genomic location; get a variant's allele frequencies broken down by ancestry population (African/African-American, Admixed American, Ashkenazi Jewish, East Asian, Finnish, Non-Finnish European, South Asian, Middle Eastern…) across both genome and exome callsets, with rsIDs, homozygote counts and predicted consequence; search genes by symbol; read a transcript's constraint; and list the variants in a small genomic region. Supports GRCh38 and GRCh37 and the gnomAD v4/v3/v2 datasets. Ideal for clinical and population genetics, variant interpretation and prioritisation, rare-disease and pharmacogenomics research, and bioinformatics pipelines. Variant ids are chrom-pos-ref-alt.
api.oanor.com/gnomad-api