Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI429/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "917", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.767137, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 176023952, "genomic_position_hg38": 176596951, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.007740", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2884C>T", "protein_change": "p.Arg962Cys", "transcript_id": "NM_052899.2", "dbsnp_id": "rs537226925", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI429" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/917/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/917/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/917/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/917/gene/?format=api" }, "data": { "type": "Gene", "id": "GPRIN1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/917/?format=api" } }, { "type": "SmallVariant", "id": "918", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.01883, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 91993930, "genomic_position_hg38": 89379015, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.014366", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.2278C>A", "protein_change": "p.Leu760Met", "transcript_id": "NM_006378.3", "dbsnp_id": "rs144584936", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI429" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/918/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/918/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/918/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/918/gene/?format=api" }, "data": { "type": "Gene", "id": "SEMA4D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/918/?format=api" } }, { "type": "SmallVariant", "id": "919", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.988092, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 128850942, "genomic_position_hg38": 129211101, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.020814", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1789G>A", "protein_change": "p.Asp597Asn", "transcript_id": "NM_005631.4", "dbsnp_id": "rs989582182", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI429" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/919/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/919/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/919/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/919/gene/?format=api" }, "data": { "type": "Gene", "id": "SMO" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/919/?format=api" } } ], "meta": { "database_name": "OLIgogenic diseases DAtabase (OLIDA)", "resource_url": "olida.ibsquare.be", "api_release_year": "2021", "api_developer": [ [ "Arnau Dillen", "arnau.dillen@ulb.ac.be" ], [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_version": "0.3", "api_maintainers": [ [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_documentation": [ "olida.ibsquare.be/api/swagger", "olida.ibsquare.be/api/redoc" ], "copyright": "Copyright (c) 2025 · OLIDA All Rights Reserved.", "license": "CC Attribution-NonCommercial 4.0 International License", "ontologies": { "ORDO": "http://bioportal.bioontology.org/ontologies/ORDO", "GENO": "http://purl.obolibrary.org/obo/geno.owl", "MI": "http://purl.obolibrary.org/obo/mi.owl", "NCIT": "http://purl.obolibrary.org/obo/ncit.owl", "OGI": "http://purl.obolibrary.org/obo/ogi.owl", "OGG": "http://purl.obolibrary.org/obo/ogg.owl" }, "relevant_publications_doi": [ "10.1093/nar/gkv1068", "10.1093/database/baac023" ], "Variant serializers": [ "SmallVariantSerializer", "CopyNumberVariantSerializer" ], "size": 3 } }