Retrieve detailed genetic variant information, including population frequencies and genomic data, by specifying a variant ID and dataset from gnomAD’s Genome Aggregation Database.
Retrieve genetic variants within a specified genomic region using chromosome, start, and stop positions. Access variant data from the gnomAD database with customizable dataset and reference genome options.
Retrieve all genetic variants within a specified gene using Ensembl ID or gene symbol. Access variant data from gnomAD datasets and analyze population-level genetic information.
Query genes, variants, or regions in the gnomAD database to retrieve genetic variant data, population frequencies, and gene constraint scores. Supports GRCh37 and GRCh38 reference genomes for in-depth genomic analysis.
Retrieve detailed information about a specific transcript using its Ensembl ID. Query genetic data such as variant details, constraint scores, and population frequencies from the gnomAD database.