is a Data Source.
The database of Genotypes and Phenotypes (dbGaP) is NCBI's archive for data and results from studies of the interaction of genotype and phenotype in humans, including genome-wide association studies, medical sequencing, molecular diagnostic assays and associations between genotype and non-clinical traits. Study descriptions, protocols, data dictionaries and summary-level variable statistics are public, while individual-level genotype and phenotype data are distributed through controlled access under data use limitations set by each study. When checked on 2026-10-04 the public FTP site held study directories for 3,322 phs accessions.
| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| dbgap.portal | dbGaP Web Portal | gap | Graphical Interface | http | dbGaP web portal for searching and br... |
| dbgap.advanced-search | dbGaP Advanced Search | advanced_search | Graphical Interface | http | dbGaP Advanced Search interface for f... |
| dbgap.ftp | dbGaP Public Study Files | studies | Product | mixed | Public FTP directory of released stud... |
| dbgap.gwas-analysis | dbGaP GWAS Analysis Files | gwas_analysis | Product | mixed | Public FTP directory of GWAS analysis... |
| dbgap.sstr-api | dbGaP Study Metadata API | sstr | Programming Interface | http | dbGaP Study Metadata (SSTR) API retur... |
| dbgap.fhir-api | dbGaP FHIR API | metadata | Programming Interface | http | dbGaP FHIR API exposing study, subjec... |
| dbgap.authorized-access | dbGaP Authorized Access | wga.cgi?page=login | Graphical Interface | http | dbGaP Authorized Access system, where... |
| dbgap.submission-guide | dbGaP Study Submission Guide | submissionguide | Documentation | http | dbGaP Study Submission Guide describi... |
| ID | Name | URL | Category | Format | Relation | Description |
|---|---|---|---|---|---|---|
| gtex.dbgap-data | GTEx dbGaP Data | study.cgi?study_id=phs000424 | Product | vcf | was influenced by | Individual-level genotype and phenoty... |
| omicsdi.portal | OmicsDI Portal | www.omicsdi.org | Graphical Interface | http | had primary source | Web portal for searching and browsing... |
| omicsdi.api | OmicsDI API | index.html | Programming Interface | http | had primary source | Swagger-documented web service for pr... |
| biodata-catalyst.picsure | BDC PIC-SURE | picsure.biodatacatalyst.nhlbi.nih.gov | Graphical Interface | http | was influenced by | BDC PIC-SURE (Patient Information Com... |
| biodata-catalyst.picsure-api ⚠ | BDC PIC-SURE API | picsure | Programming Interface | http | was influenced by | PIC-SURE REST API for programmatic qu... |
| biodata-catalyst.gen3 | BDC Gen3 Data Commons | gen3.biodatacatalyst.nhlbi.nih.gov | Graphical Interface | http | was influenced by | BDC Gen3 data commons for browsing st... |
| biodata-catalyst.analysis-platforms | BDC Analysis Platforms (Terra and Seven Bridges) | terra.biodatacatalyst.nhlbi.nih.gov | Graphical Interface | http | was influenced by | Cloud analysis workspaces available w... |
The database of Genotypes and Phenotypes (dbGaP) was developed by NCBI to archive and distribute the data and results of studies that investigate the interaction of genotype and phenotype in humans. It holds genome-wide association studies, medical sequencing and clinical studies, and molecular data from programs such as GTEx, TOPMed and Kids First.
Studies have phs accessions with version and participant set (for example phs000001.v3.p1). Datasets, variables, documents and analyses have pht, phv, phd and pha accessions.
The Study Metadata (SSTR) API returns JSON study summaries, and the dbGaP FHIR API exposes study and phenotype metadata as FHIR resources. The public FTP site mirrors released study metadata by accession.
Created: October 04, 2026 | Last modified: October 04, 2026