#variants

Human genomic structural variation as an API — powered by NCBI dbVar, the archive of structural variants (SVs): copy-number variants (CNVs), large deletions, duplications, insertions, inversions and translocations, typically larger than 50 base pairs. This is the structural counterpart to single-nucleotide variant databases: search structural variants overlapping a gene (or by free text) and get each variant's dbVar accession, the study it came from, its type, the genes it overlaps, its genomic placement on GRCh38 and its clinical significance; then look up any variant for the full record — placements on both GRCh37 and GRCh38 assemblies, variant type, genes, clinical significance, study type, methods and variant counts. From BRCA1 CNVs to Cri-du-chat deletions, it is ideal for genomics, cytogenetics, rare-disease and bioinformatics work. A structural-variation / CNV resource — distinct from clinical single-nucleotide variant interpretation (ClinVar), population allele frequencies (gnomAD) and trait associations (GWAS). Open data from NCBI dbVar (public domain).

api.oanor.com/dbvar-api

ClinVar as an API, powered by the US National Library of Medicine via NCBI E-utilities. ClinVar is the public archive of the relationships between human genetic variants and health, recording the clinical significance (interpretation) of each variant — whether it is Pathogenic, Likely pathogenic, of Uncertain significance, Likely benign or Benign — together with the conditions it is associated with. /v1/search?gene=BRCA1 searches ClinVar by gene symbol, or by free text with q= (e.g. a disease or HGVS expression), returning the total number of matching variants and a list of ClinVar variation ids. /v1/variant?id=4852102 returns a variant's summary: its ClinVar accession (VCV…), title, variant type, the variation and cDNA names, the clinical classification and review status, the associated condition(s), the gene(s) and primary gene, the chromosome and location, the protein change and the molecular consequence, plus a link to the ClinVar record. Get a variation id from /v1/search, then fetch its details. Ideal for clinical-genomics and variant-annotation pipelines, rare-disease and genetic-counselling tools, and research dashboards. Data from NCBI ClinVar (public domain). This is clinical variant interpretation — distinct from population allele-frequency databases (such as gnomAD) and from protein/sequence databases. Please keep request rates modest under NCBI fair-use.

api.oanor.com/clinvar-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

The Ensembl genome database as an API, powered by the official Ensembl REST service from EMBL-EBI. Look up any gene by symbol or Ensembl stable id for its biotype, genomic location, strand, description and transcripts; resolve any feature (gene, transcript, exon) by stable id; pull external database cross-references; fetch sequence variants by rsID with their alleles, most-severe consequence, minor-allele frequency, clinical significance and genomic mappings; list the genes, transcripts, exons, variations or repeats overlapping any genomic region; retrieve genomic, cDNA, CDS or protein sequences by id; and read genome-assembly metadata including the karyotype and chromosome lengths. Across human, mouse and 300+ vertebrate species. Ideal for bioinformatics pipelines, genome browsers and variant-annotation tools, genetics research apps, clinical-genomics dashboards and life-science chatbots.

api.oanor.com/ensembl-api