Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI603/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1310", "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": 0.235716, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 149639336, "genomic_position_hg38": 150471064, "chromosome": "X", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:48.376679", "ref_allele": "G", "alt_allele": "GCAGCAG", "cdna_change": "c.1500_1505dup", "protein_change": "p.Gln501_Gln502dup", "transcript_id": "NM_005491.4", "dbsnp_id": "rs781802555", "variant_effect": "insertion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI603" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1310/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1310/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1310/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1310/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1310/?format=api" } }, { "type": "SmallVariant", "id": "1311", "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": 3.687e-05, "gnomad_AFR_maf": 0.0001315, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.513e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 5.482e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0002284, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.371874, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5800455, "genomic_position_hg38": 5798728, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.383002", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2240C>T", "protein_change": "p.Ala747Val", "transcript_id": "NM_153717.2", "dbsnp_id": "rs151091776", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI603" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1311/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1311/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1311/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1311/gene/?format=api" }, "data": { "type": "Gene", "id": "EVC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1311/?format=api" } }, { "type": "SmallVariant", "id": "1312", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0018, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.002207, "gnomad_AFR_maf": 0.0005812, "gnomad_AMR_maf": 0.0009557, "gnomad_ASJ_maf": 0.002384, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0007425, "gnomad_NFE_maf": 0.003593, "gnomad_OTH_maf": 0.001983, "gnomad_SAS_maf": 0.001634, "ESP_AA_maf": 0.0007862, "ESP_EA_maf": 0.003382 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.359457, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 140811709, "genomic_position_hg38": 139890555, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.389237", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.881A>G", "protein_change": "p.Asn294Ser", "transcript_id": "NM_018717.4", "dbsnp_id": "rs115966590", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI603" }, { "type": "Combination", "id": "OLI604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1312/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1312/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1312/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1312/gene/?format=api" }, "data": { "type": "Gene", "id": "MAML3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1312/?format=api" } }, { "type": "SmallVariant", "id": "1313", "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": 0.0004295, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0008095, "gnomad_ASJ_maf": 0.0006944, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.24e-05, "gnomad_NFE_maf": 0.0005978, "gnomad_OTH_maf": 0.0004886, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.000814 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.676332, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 120458982, "genomic_position_hg38": 119916359, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.395483", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.6363G>C", "protein_change": "p.Lys2121Asn", "transcript_id": "NM_024408.3", "dbsnp_id": "rs144047610", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI603" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1313/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1313/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1313/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1313/gene/?format=api" }, "data": { "type": "Gene", "id": "NOTCH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1313/?format=api" } }, { "type": "SmallVariant", "id": "1314", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0028, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0144, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.01134, "gnomad_AFR_maf": 0.0004929, "gnomad_AMR_maf": 0.05663, "gnomad_ASJ_maf": 0.004778, "gnomad_EAS_maf": 0.003703, "gnomad_FIN_maf": 0.02359, "gnomad_NFE_maf": 0.001113, "gnomad_OTH_maf": 0.00932, "gnomad_SAS_maf": 0.002361, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.0006977 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.421698, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 149219653, "genomic_position_hg38": 149840090, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.401748", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2668G>A", "protein_change": "p.Ala890Thr", "transcript_id": "NM_133263.3", "dbsnp_id": "rs150637009", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI603" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1314/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1314/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1314/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1314/gene/?format=api" }, "data": { "type": "Gene", "id": "PPARGC1B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1314/?format=api" } }, { "type": "SmallVariant", "id": "1315", "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": 3.981e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.896e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.043e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.269e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.832283, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 122637900, "genomic_position_hg38": 120878388, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.408059", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.1592C>G", "protein_change": "p.Ser531Cys", "transcript_id": "NM_018117.11", "dbsnp_id": "rs775506715", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI603" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1315/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1315/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1315/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1315/gene/?format=api" }, "data": { "type": "Gene", "id": "WDR11" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1315/?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": 6 } }