Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI832/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "123", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0014, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0069, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0006725, "gnomad_AFR_maf": 0.0001846, "gnomad_AMR_maf": 0.0001445, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.007938, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.803e-05, "gnomad_OTH_maf": 0.0004891, "gnomad_SAS_maf": 6.533e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.480398, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73029268, "genomic_position_hg38": 72736927, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.251460", "ref_allele": "A", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Met472Val", "transcript_id": null, "dbsnp_id": "rs2277596", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI062" }, { "type": "Combination", "id": "OLI832" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/123/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/123/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/123/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/123/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/123/?format=api" } }, { "type": "SmallVariant", "id": "436", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": null, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "16", "annotation_flag": "ambiguous_variant", "lastmodified": "2021-12-06T15:21:13.749169", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.209G>A", "protein_change": "p.Ser70Asn", "transcript_id": "NM_031885.4", "dbsnp_id": "None", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI224" }, { "type": "Combination", "id": "OLI832" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/436/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/436/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/436/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/436/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/436/?format=api" } }, { "type": "SmallVariant", "id": "1822", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.523271, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 90192465, "genomic_position_hg38": 89649234, "chromosome": "15", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:51.508853", "ref_allele": "GAAGACCGTGT", "alt_allele": "G", "cdna_change": "c.653_662delCACGGTCTT", "protein_change": "p.218-221del", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI832" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1822/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1822/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1822/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1822/gene/?format=api" }, "data": { "type": "Gene", "id": "KIF7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1822/?format=api" } }, { "type": "SmallVariant", "id": "1823", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0114, "KGP_genomes_AFR_maf": 0.0023, "KGP_genomes_AMR_maf": 0.0144, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0368, "KGP_genomes_SAS_maf": 0.0061, "gnomad_maf": 0.02014, "gnomad_AFR_maf": 0.005988, "gnomad_AMR_maf": 0.01767, "gnomad_ASJ_maf": 0.03601, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.02398, "gnomad_NFE_maf": 0.02652, "gnomad_OTH_maf": 0.02566, "gnomad_SAS_maf": 0.0107, "ESP_AA_maf": 0.006081, "ESP_EA_maf": 0.0263 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.038114, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 135751024, "genomic_position_hg38": 135429886, "chromosome": "6", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.515399", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2488C>T", "protein_change": "p.Arg830Trp", "transcript_id": "NM_001134830.1", "dbsnp_id": "rs13312995", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI832" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1823/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1823/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1823/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1823/gene/?format=api" }, "data": { "type": "Gene", "id": "AHI1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1823/?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": 4 } }