Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI331/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "638", "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": 1.193e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.619e-05, "gnomad_NFE_maf": 1.758e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.0021, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33039600, "genomic_position_hg38": 31667287, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.253400", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Ala90Val", "transcript_id": null, "dbsnp_id": "rs1280042397", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 8 }, "data": [ { "type": "Combination", "id": "OLI328" }, { "type": "Combination", "id": "OLI329" }, { "type": "Combination", "id": "OLI330" }, { "type": "Combination", "id": "OLI331" }, { "type": "Combination", "id": "OLI332" }, { "type": "Combination", "id": "OLI333" }, { "type": "Combination", "id": "OLI334" }, { "type": "Combination", "id": "OLI335" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/638/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/638/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/638/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/638/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/638/?format=api" } }, { "type": "SmallVariant", "id": "666", "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": 3.976e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.791e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.735101, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1817362, "genomic_position_hg38": 1869196, "chromosome": "8", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.440191", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.700C>A", "protein_change": "p.Pro234Thr", "transcript_id": "NM_001308153.2", "dbsnp_id": "rs545402502", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI331" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/666/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/666/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/666/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/666/gene/?format=api" }, "data": { "type": "Gene", "id": "ARHGEF10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/666/?format=api" } }, { "type": "SmallVariant", "id": "667", "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": 0.0004188, "gnomad_AFR_maf": 0.0001846, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0003698, "gnomad_NFE_maf": 0.0008219, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.001047 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.408532, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 22985294, "genomic_position_hg38": 22945675, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.446753", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1480G>A", "protein_change": "p.Val494Ile", "transcript_id": "NM_032581.3", "dbsnp_id": "rs151228394", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI331" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/667/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/667/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/667/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/667/gene/?format=api" }, "data": { "type": "Gene", "id": "FAM126A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/667/?format=api" } }, { "type": "SmallVariant", "id": "668", "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": 0.0001051, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.799e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.792e-05, "gnomad_NFE_maf": 0.0001978, "gnomad_OTH_maf": 0.0001649, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003489 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.185433, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 48956113, "genomic_position_hg38": 48452856, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.453410", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1172C>T", "protein_change": "p.Ala391Val", "transcript_id": "NM_031485.3", "dbsnp_id": "rs377325041", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI331" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/668/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/668/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/668/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/668/gene/?format=api" }, "data": { "type": "Gene", "id": "GRWD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/668/?format=api" } }, { "type": "SmallVariant", "id": "669", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0042, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0139, "KGP_genomes_SAS_maf": 0.0041, "gnomad_maf": 0.007765, "gnomad_AFR_maf": 0.001911, "gnomad_AMR_maf": 0.004881, "gnomad_ASJ_maf": 0.01416, "gnomad_EAS_maf": 5.58e-05, "gnomad_FIN_maf": 0.007766, "gnomad_NFE_maf": 0.01001, "gnomad_OTH_maf": 0.01068, "gnomad_SAS_maf": 0.007678, "ESP_AA_maf": 0.003404, "ESP_EA_maf": 0.01117 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 1.84222, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73981299, "genomic_position_hg38": 74685474, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.460053", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.214C>T", "protein_change": "p.Leu72Phe", "transcript_id": "NM_000521.3", "dbsnp_id": "rs147155126", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI331" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/669/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/669/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/669/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/669/gene/?format=api" }, "data": { "type": "Gene", "id": "HEXB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/669/?format=api" } }, { "type": "SmallVariant", "id": "670", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.00157, "gnomad_AFR_maf": 0.0003875, "gnomad_AMR_maf": 0.0001739, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.57e-05, "gnomad_FIN_maf": 0.007287, "gnomad_NFE_maf": 0.001879, "gnomad_OTH_maf": 0.001324, "gnomad_SAS_maf": 3.268e-05, "ESP_AA_maf": 0.0002601, "ESP_EA_maf": 0.001206 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.276613, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 4725445, "genomic_position_hg38": 4683761, "chromosome": "3", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.466548", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.3416A>G", "protein_change": "p.Asp1139Gly", "transcript_id": "NM_001168272.2", "dbsnp_id": "rs61751570", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI331" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/670/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/670/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/670/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/670/gene/?format=api" }, "data": { "type": "Gene", "id": "ITPR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/670/?format=api" } }, { "type": "SmallVariant", "id": "671", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0007163, "gnomad_AFR_maf": 0.000247, "gnomad_AMR_maf": 5.782e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001849, "gnomad_NFE_maf": 0.001487, "gnomad_OTH_maf": 0.0001631, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.001279 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.709595, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 57884116, "genomic_position_hg38": 57490333, "chromosome": "12", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.473269", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.617C>T", "protein_change": "p.Pro206Leu", "transcript_id": "NM_004990.4", "dbsnp_id": "rs138776588", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI331" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/671/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/671/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/671/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/671/gene/?format=api" }, "data": { "type": "Gene", "id": "MARS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/671/?format=api" } }, { "type": "SmallVariant", "id": "672", "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": 7.968e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0002325, "gnomad_NFE_maf": 0.000132, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 1.400996, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 62488862, "genomic_position_hg38": 64492745, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.480013", "ref_allele": "TAAC", "alt_allele": "T", "cdna_change": "c.714_716del", "protein_change": "p.238_239del", "transcript_id": "NM_007215.4", "dbsnp_id": "rs782339619", "variant_effect": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI331" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/672/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/672/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/672/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/672/gene/?format=api" }, "data": { "type": "Gene", "id": "POLG2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/672/?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) 2026 · 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": 8 } }