is a Data Source.
The NHGRI-EBI GWAS Catalog is a curated, searchable, and freely available database of SNP-trait associations from published and submitted genome-wide association studies. Expert curators extract reported traits, significant variant-trait associations, and study metadata, providing an integrated resource updated on a weekly cycle and accessible via web interfaces, bulk downloads, summary statistics, and a REST API.
genomics, biomedical, general
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infores:gwas-catalog
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| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| gwascatalog.web | GWAS Catalog Web Portal | gwas | GraphicalInterface | http | Web interface for searching, browsing... |
| gwascatalog.api | GWAS Catalog REST API v2 | docs | ProgrammingInterface | http | REST API providing programmatic acces... |
| gwascatalog.associations.tsv | GWAS Catalog Associations TSV | gwas-catalog-associations.tsv (460.0 MB) | Product | tsv | Full data dump of GWAS Catalog associ... |
| gwascatalog.studies.tsv | GWAS Catalog Studies TSV | gwas-catalog-studies.tsv (46.4 MB) | Product | tsv | Study metadata file containing per-st... |
| gwascatalog.traits_efo.tsv | GWAS Catalog Trait EFO Mappings TSV | trait_mappings (18.6 MB) | Product | tsv | EFO trait mapping file linking GWAS C... |
| gwascatalog.associations.owl | GWAS Catalog Associations OWL | gwas-kb.owl (1.4 GB) | Product | owl | RDF/OWL representation of GWAS Catalo... |
| gwascatalog.diagram.current | GWAS Catalog Diagram | diagram | DocumentationProduct | http | Interactive GWAS Catalog diagram show... |
| gwascatalog.summary_statistics.ftp | GWAS Catalog Summary Statistics FTP | summary_statistics | DocumentationProduct | http | Harmonised summary statistics landing... |
| ID | Name | URL | Category | Format | Relation | Description |
|---|---|---|---|---|---|---|
| aop-db.data | AOP-DB Data | adverse-outcome-pathway-database-aop-db-version-2 | Product | ❔ | had primary source | The EPA has developed the Adverse Out... |
| alzkb.browser | AlzKB Graph Database Browser | login | GraphicalInterface | http | had primary source | A browser interface for a knowledge g... |
| alzkb.data | AlzKB Data Release (Version 2.0.0) | v2.0.0 | GraphProduct | ❔ | had primary source | Memgraph data release for AlzKB. |
| automat.gwascatalog | gwascatalog_automat | e30aceb322a33462 | GraphProduct | kgx-jsonl | had primary source | GWASCatalog Automat |
| spoke.graph | SPOKE Graph | data-tools | GraphProduct | http | had primary source | The SPOKE knowledge graph containing ... |
| indra.cogex.code | INDRA CoGEx Build Code | indra_cogex | ProcessProduct | ❔ | had primary source | INDRA CoGEx is a graph database integ... |
| cancer-genome-interpreter.clinicalkg.graph | CKG Graph Dump | 1 | GraphProduct | mixed | had primary source | Neo4j database dump of the Clinical K... |
| clinicalkg.graph | CKG Graph Dump | 1 | GraphProduct | mixed | had primary source | Neo4j database dump of the Clinical K... |
| ckg.graph | CKG Graph Database Dump | 1 | GraphProduct | neo4j | had primary source | Graph database dump and additional re... |
| disgenet.data | DisGeNET Data | www.disgenet.com | GraphProduct | ❔ | had primary source | DisGeNET data, including gene to dise... |
| genecards.variant.data ⚠ | GeneCards Variant Data | www.genecards.org | Product | http | had primary source | Genetic variant data from ClinVar, db... |
| enrichr-kg.graph | Enrichr-KG Neo4j Database | ❔ | GraphProduct | neo4j | had primary source | Neo4j graph database integrating Enri... |
| medkb.site | MedKG Site | medkg | GraphicalInterface | ❔ | had primary source | Graphical interface for MedKG |
| pharmebinet.json | PharMeBINet JSON Release | content (1.8 GB) | GraphProduct | json | was derived from | PharMeBINet V2 JSON release published... |
| pharmebinet.tsv | PharMeBINet TSV Release | content (1.8 GB) | GraphProduct | tsv | was derived from | PharMeBINet V2 TSV release published ... |
| pharmebinet.graphml | PharMeBINet GraphML Release | content (1.9 GB) | GraphProduct | mixed | was derived from | PharMeBINet V2 GraphML release publis... |
| pharmebinet.neo4j | PharMeBINet Neo4j Database | content (3.6 GB) | GraphProduct | neo4j | was derived from | PharMeBINet V2 Neo4j database release... |
| pharmebinet.neo4j.dump | PharMeBINet Neo4j Dump | content (3.4 GB) | GraphProduct | neo4j | was derived from | PharMeBINet V2 Neo4j dump release pub... |
| markerdb.api | MarkerDB API | markerdb_api | ProgrammingInterface | http | was informed by | MarkerDB API documentation and endpoi... |
| markerdb.sequence_variants.tsv ⚠ | MarkerDB Genetic Biomarkers TSV | download_all_sequence_variants?format=tsv | Product | tsv | was informed by | TSV export of MarkerDB genetic biomar... |
| phewascat.associations | PheWAS Association Data | phewas-catalog.csv.zip (7.8 MB) | Product | csv | was informed by | PheWAS association results for SNPs f... |
| harmonizome.downloads | Harmonizome Downloads | download | Product | mixed | was derived from | Harmonizome 3.0 processed dataset dow... |
| harmonizome.kg-neo4j | Harmonizome Knowledge Graph Neo4j Database | harmonizome-kg.maayanlab.cloud | GraphProduct | neo4j | was derived from | Neo4j knowledge graph serialization o... |
| biobtree.api | BioBTree REST API | api | ProgrammingInterface | http | had primary source | REST API for searching identifiers an... |
The NHGRI-EBI GWAS Catalog provides a comprehensive, consistently curated, and publicly accessible collection of genome-wide association study (GWAS) results, including SNP-trait associations, study design and sample metadata, variant annotations, and trait ontology mappings. Data are curated by expert biocurators and released on a weekly schedule. Multiple access mechanisms are supported: interactive web portal, REST API, bulk downloads (TSV, JSON, OWL), ontology mappings, graphical diagram, and per-study summary statistics (including harmonised datasets).
General usage is governed by EMBL-EBI Terms of Use. Unless otherwise noted, summary statistics are released under CC0. Users should also cite the 2025 Nucleic Acids Research publication (Cerezo et al. 2025) and individual studies when reusing summary statistics.
Cerezo M, Sollis E, Ji Y, Lewis E, Abid A, Bircan KO, Hall P, et al. Nucleic Acids Research. 2025. doi:10.1093/nar/gkae1070.
For questions or feedback email gwas-info@ebi.ac.uk. Mailing lists are available for announcements (gwas-announce@ebi.ac.uk) and user discussions (gwas-users@ebi.ac.uk).
Created: July 20, 2025 | Last modified: May 30, 2026