Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI902/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "401", "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": 0.0004502, "gnomad_AFR_maf": 6.16e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.004947, "gnomad_FIN_maf": 9.24e-05, "gnomad_NFE_maf": 8.821e-05, "gnomad_OTH_maf": 0.0001633, "gnomad_SAS_maf": 0.0002614, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.340337, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 68610309, "genomic_position_hg38": 67744591, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.881281", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg240Gln", "transcript_id": null, "dbsnp_id": "rs182531866", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 5 }, "data": [ { "type": "Combination", "id": "OLI207" }, { "type": "Combination", "id": "OLI851" }, { "type": "Combination", "id": "OLI866" }, { "type": "Combination", "id": "OLI896" }, { "type": "Combination", "id": "OLI902" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/401/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/401/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/401/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/401/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/401/?format=api" } }, { "type": "SmallVariant", "id": "1952", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0099, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0005928, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.007557, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.76e-05, "gnomad_OTH_maf": 0.0004894, "gnomad_SAS_maf": 0.0001633, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.320691, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 41748818, "genomic_position_hg38": 41242913, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.328202", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1343G>T", "protein_change": "p.Trp448Leu", "transcript_id": "NM_021913.4", "dbsnp_id": "rs117588892", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI902" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1952/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1952/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1952/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1952/gene/?format=api" }, "data": { "type": "Gene", "id": "AXL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1952/?format=api" } }, { "type": "SmallVariant", "id": "1953", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.77283, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 48460742, "genomic_position_hg38": 48419333, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.334591", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.2743T>C", "protein_change": "p.Cys915Arg", "transcript_id": "NM_001130082.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI902" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1953/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1953/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1953/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1953/gene/?format=api" }, "data": { "type": "Gene", "id": "PLXNB1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1953/?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 } }