#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 como API, alimentado por la Biblioteca Nacional de Medicina de EE. UU. a través de las utilidades E de NCBI. ClinVar es el archivo público de las relaciones entre variantes genéticas humanas y la salud, registrando la interpretación clínica (significado) de cada variante — si es Patogénica, Probablemente patogénica, de Significado incierto, Probablemente benigna o Benigna — junto con las condiciones asociadas. /v1/search?gene=BRCA1 busca en ClinVar por símbolo de gen, o por texto libre con q= (por ejemplo, una enfermedad o expresión HGVS), devolviendo el número total de variantes coincidentes y una lista de identificadores de variantes de ClinVar. /v1/variant?id=4852102 devuelve un resumen de una variante: su acceso de ClinVar (VCV…), título, tipo de variante, los nombres de la variante y cDNA, la clasificación clínica y el estado de revisión, la(s) condición(es) asociada(s), el(los) gen(es) y el gen primario, el cromosoma y la ubicación, el cambio de proteína y la consecuencia molecular, además de un enlace al registro de ClinVar. Obtenga un ID de variante de /v1/search, luego obtenga sus detalles. Ideal para pipelines de genómica clínica y anotación de variantes, herramientas de enfermedades raras y asesoramiento genético, y paneles de investigación. Datos de NCBI ClinVar (dominio público). Esta es interpretación de variantes clínicas — distinta de las bases de datos de frecuencia alélica poblacional (como gnomAD) y de las bases de datos de proteínas/secuencias. Mantenga las tasas de solicitud moderadas según el uso justo de NCBI.

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