ClinGen's File Downloads & APIs

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This page provides files for download and information about API resources for the following activities.

Summary Report

ClinGen Curation Activity Summary Report
This file provides summary curation information about Gene-Disease Validity, Dosage Sensitivity, and Clinical Actionability. Curations for each activity are grouped by gene (HGNC) and disease (MONDO). This file is helpful for those seeking to understand all of the genes and/or diseases ClinGen has curated along with summary information.
 CSV

Gene-Disease Validity Downloads

Gene-Disease Validity Curations
This file provides a summary of the Gene-Disease Validity curations completed by ClinGen's GCEPs. This file is built in real-time.
CSV

Dosage Sensitivity Downloads

README
This files are produced by the ClinGen Dosage Sensitivity Curation Working Group, formerly the International Standards for Cytogenomic Arrays (ISCA) Consortium Evidence-Based Review Committee. The goal of this group is to curate regions of the genome (both single genes and particular genomic regions) with respect to their haploinsufficiency and/or triplosensitivity.
README
Dosage Sensitivity Curations )Genes Only)
This file provides a summary of the Dosage Sensitivity gene curations completed by ClinGen. This file is built in real-time.
CSV
Dosage Sensitivity Curations (Genes and Regions)
This file provides a summary of the Dosage Sensitivity gene and region curations completed by ClinGen. This file is built in real-time.
CSV
Dosage Sensitivity Curated Gene List
The files in this directory contain data for genes that have been through the review process. These files are updated daily. Files are available for genes and regions localized on both GRCh37 and GRCh38. The tsv files have a header and contain all of the curation information found on the ClinGen Dosage Sensitivity Map web pages, including disease name (when applicable), PMIDs used as evidence, and comments.
 GRCh37 (tsv) GRCh38 (tsv)
Dosage Sensitivity Curated Region List
The files in this directory contain data for regions that have been through the review process. These files are updated daily. Files are available for genes and regions localized on both GRCh37 and GRCh38. The tsv files have a header and contain all of the curation information found on the ClinGen Dosage Sensitivity Map web pages, including disease name (when applicable), PMIDs used as evidence, and comments.
 GRCh37 (tsv) GRCh38 (tsv)
Dosage Sensitivity Haploinsufficiency Genes
BED files are available for gene curation. There are separate files for haploinsufficiency and triplosensitivity as the BED file only has one column for 'score'. Because the score column expects a number rather than text, "Dosage sensitivity unlikely" is represented by the score of 40, and "Gene associated with autosomal recessive phenotype" is represented by the score of 30.
 GRCh37 (bed) GRCh38 (bed)
Dosage Sensitivity Triplosensitivity Genes
BED files are available for gene curation. There are separate files for haploinsufficiency and triplosensitivity as the BED file only has one column for 'score'. Because the score column expects a number rather than text, "Dosage sensitivity unlikely" is represented by the score of 40, and "Gene associated with autosomal recessive phenotype" is represented by the score of 30.
 GRCh37 (bed) GRCh38 (bed)
Dosage Sensitivity Recurrent CNV
These files contains recurrent copy number variations (CNV) that have been, or are in the process of being, reviewed by the recurrent CNV ClinGen DSC Subgroup. This file is available in genome build hg19 and hg38 and can be opened in ChAS software (.aed) or in array analysis software that utilizes (.bed) files as well as the UCSC genome browser. The orange bars represent each recurrent region. The black bars represent the segmental duplication clusters/breakpoints.
 HG19 (bed) HG19 (aed) HG38 (bed) HG38 (aed)
All Dosage Sensitivity Download FTP Files and Archives
All Dosage Sensitivity download files are refreshed nightly are available for the last 60 days.
Current FTP Files FTP File Archives

Clinical Actionability Downloads

Clinical Actionability API - Adult JSON
REST-API endpoints to get the actionability curation data for the Adult context in a JSON format.
 NESTED JSON FLAT JSON
Clinical Actionability API - Pediatric JSON
REST-API endpoints to get the actionability curation data for the Pediatric context in a JSON format.
 NESTED JSON FLAT JSON
Summary of Overall Scores from Released Reports
Summary of overall scores from released reports is available for Adult and Pediatric contexts.
 ADULT - TSV Pediatric - TSV
Summary of Individual Scores from Released Reports
Summary of individual scores from released reports is available for Adult and Pediatric contexts.
 ADULT - TSV Pediatric - TSV
Summary of All Assertions from Released Reports
Summary of all assertions from released reports is available for Adult and Pediatric contexts.
 ADULT - TSV Pediatric - TSV
Summary of Consensus Assertions from Released Reports
Summary of consensus assertions from released reports is available for Adult and Pediatric contexts.
 ADULT - TSV Pediatric - TSV
Additional Clinical Actionability Download Options
Clinical Actionability data can be downloaded by clicking the link to the right and choosing the “Export” option on the top-right of the reports table.
Website

Variant Pathogenicity Downloads

Variant Pathogenicity
This file provides a summary of the Variant Pathogenicitycurations completed by ClinGen's VCEPs.
CSV
API Documentation
OpenAPI specification and documentation for the ClinGen Evidence Repository JSON-LD REST API
 Documentation