#genetics

Polygenic (risk) scores as an API — powered by the NHGRI-EBI PGS Catalog, the open database of published polygenic scores: weighted combinations of genetic variants used to estimate a person's genetic predisposition to a trait or disease. Search traits by name to find their ontology ids, list every polygenic score developed for a trait, and read a score's full metadata — the reported and mapped (EFO/MONDO) traits, the number of variants in the score, the development method, genome build, the ancestry distribution of the samples it was built and evaluated on, the publication behind it (title, journal, date, PubMed id), the release date, license and a direct link to the scoring file. From breast cancer and coronary artery disease to type 2 diabetes and BMI, it is ideal for statistical genetics, genomics, risk-prediction research and bioinformatics tools. A polygenic-score / genetic-risk-prediction resource — distinct from single-variant association studies (GWAS Catalog), population allele frequencies (gnomAD) and clinical variant interpretation (ClinVar). Open data from the NHGRI-EBI PGS Catalog (CC BY 4.0).

api.oanor.com/pgs-api

Human genetic trait associations as an API — powered by the NHGRI-EBI GWAS Catalog, the curated reference of published genome-wide association studies. It answers the core question of statistical genetics: which genetic variants (SNPs) are associated with which traits and diseases, and how strongly. Look up a SNP to get its functional class, genomic location and mapped genes; pull every trait association reported for it — the trait, p-value, effect size (odds ratio or beta), risk allele and frequency, and author-reported genes; and read the study behind the evidence — trait, sample sizes, ancestries, genotyping technology and the publication (PubMed id, authors, journal, date). From type 2 diabetes and Crohn disease to systemic lupus erythematosus and hundreds of thousands of associations, it is ideal for genomics, bioinformatics, statistical-genetics and biomedical research tools. A published genetic-association evidence base — distinct from population allele frequencies (gnomAD), clinical variant interpretation (ClinVar) and genome annotation (Ensembl). Open data from the NHGRI-EBI GWAS Catalog (EMBL-EBI).

api.oanor.com/gwas-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

Drug target–disease associations as an API, powered by the Open Targets Platform. Open Targets integrates human genetics, genomics, transcriptomics, known drugs, animal models and the scientific literature to systematically score how strongly a target (gene/protein) is associated with a disease — the evidence that underpins modern drug discovery. Search across targets, diseases and drugs; read a target for its approved symbol, biotype, function, genomic location and UniProt ids together with the diseases it is most strongly associated with and their overall association scores; read a disease for its description, therapeutic areas and its top associated targets with scores; and read a drug for its modality, maximum clinical stage, trade names, synonyms and mechanisms of action. Ideal for drug-discovery and target-identification pipelines, therapeutic-area research, biomedical data science and pharma intelligence tools. Target ids are Ensembl gene ids, disease ids are EFO/MONDO/Orphanet ids, drug ids are ChEMBL ids. Data is open (CC0).

api.oanor.com/opentargets-api