Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI970/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "693", "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": 0.001432, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 8.674e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01146, "gnomad_NFE_maf": 0.0007296, "gnomad_OTH_maf": 0.001304, "gnomad_SAS_maf": 0.0005879, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.000814 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.508335, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33039603, "genomic_position_hg38": 31667290, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.616879", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.272A>C", "protein_change": "p.Asp91Ala", "transcript_id": "NM_000454.4", "dbsnp_id": "rs80265967", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 9 }, "data": [ { "type": "Combination", "id": "OLI335" }, { "type": "Combination", "id": "OLI777" }, { "type": "Combination", "id": "OLI964" }, { "type": "Combination", "id": "OLI965" }, { "type": "Combination", "id": "OLI966" }, { "type": "Combination", "id": "OLI967" }, { "type": "Combination", "id": "OLI968" }, { "type": "Combination", "id": "OLI969" }, { "type": "Combination", "id": "OLI970" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/693/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/693/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/693/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/693/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/693/?format=api" } }, { "type": "SmallVariant", "id": "2085", "attributes": { "frequencies": { "KGP_genomes_maf": 0.105, "KGP_genomes_AFR_maf": 0.0802, "KGP_genomes_AMR_maf": 0.085, "KGP_genomes_EAS_maf": 0.1825, "KGP_genomes_EUR_maf": 0.0974, "KGP_genomes_SAS_maf": 0.0808, "gnomad_maf": 0.0984, "gnomad_AFR_maf": 0.08106, "gnomad_AMR_maf": 0.05746, "gnomad_ASJ_maf": 0.109, "gnomad_EAS_maf": 0.1687, "gnomad_FIN_maf": 0.08242, "gnomad_NFE_maf": 0.1093, "gnomad_OTH_maf": 0.1067, "gnomad_SAS_maf": 0.08216, "ESP_AA_maf": 0.07478, "ESP_EA_maf": 0.1139 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.539105, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 170398454, "genomic_position_hg38": 169477303, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.119300", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.2255A>G", "protein_change": "p.Glu752Gly", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI964" }, { "type": "Combination", "id": "OLI968" }, { "type": "Combination", "id": "OLI970" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2085/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2085/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2085/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2085/gene/?format=api" }, "data": { "type": "Gene", "id": "NEK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2085/?format=api" } }, { "type": "SmallVariant", "id": "2099", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0086, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0245, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0209, "KGP_genomes_SAS_maf": 0.0031, "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": 0.058168, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 135138777, "genomic_position_hg38": 132263390, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.207134", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.*849G>T", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI970" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2099/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2099/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2099/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2099/gene/?format=api" }, "data": { "type": "Gene", "id": "SETX" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2099/?format=api" } }, { "type": "SmallVariant", "id": "2100", "attributes": { "frequencies": { "KGP_genomes_maf": 0.005, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0109, "KGP_genomes_SAS_maf": 0.0102, "gnomad_maf": 0.009245, "gnomad_AFR_maf": 0.001107, "gnomad_AMR_maf": 0.003932, "gnomad_ASJ_maf": 0.01587, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01603, "gnomad_NFE_maf": 0.009441, "gnomad_OTH_maf": 0.01042, "gnomad_SAS_maf": 0.01718, "ESP_AA_maf": 0.001816, "ESP_EA_maf": 0.01047 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.413071, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 135224757, "genomic_position_hg38": 132349370, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.213423", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.59G>A", "protein_change": "p.Arg20His", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI970" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2100/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2100/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2100/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2100/gene/?format=api" }, "data": { "type": "Gene", "id": "SETX" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2100/?format=api" } }, { "type": "SmallVariant", "id": "2101", "attributes": { "frequencies": { "KGP_genomes_maf": 0.016, "KGP_genomes_AFR_maf": 0.003, "KGP_genomes_AMR_maf": 0.0086, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0398, "KGP_genomes_SAS_maf": 0.0297, "gnomad_maf": 0.03383, "gnomad_AFR_maf": 0.005089, "gnomad_AMR_maf": 0.0234, "gnomad_ASJ_maf": 0.07106, "gnomad_EAS_maf": 0.0001917, "gnomad_FIN_maf": 0.03655, "gnomad_NFE_maf": 0.03918, "gnomad_OTH_maf": 0.03985, "gnomad_SAS_maf": 0.04217, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.148438, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 31203669, "genomic_position_hg38": 31192348, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.219732", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.*910C>T", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI970" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2101/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2101/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2101/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2101/gene/?format=api" }, "data": { "type": "Gene", "id": "FUS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2101/?format=api" } }, { "type": "SmallVariant", "id": "2102", "attributes": { "frequencies": { "KGP_genomes_maf": 0.1284, "KGP_genomes_AFR_maf": 0.1044, "KGP_genomes_AMR_maf": 0.1671, "KGP_genomes_EAS_maf": 0.2718, "KGP_genomes_EUR_maf": 0.0895, "KGP_genomes_SAS_maf": 0.0256, "gnomad_maf": 0.1045, "gnomad_AFR_maf": 0.09457, "gnomad_AMR_maf": 0.1615, "gnomad_ASJ_maf": 0.07463, "gnomad_EAS_maf": 0.2564, "gnomad_FIN_maf": 0.07241, "gnomad_NFE_maf": 0.08792, "gnomad_OTH_maf": 0.108, "gnomad_SAS_maf": 0.03308, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 1.23592, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 57020556, "genomic_position_hg38": 58445500, "chromosome": "20", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.225971", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.*1265G>C", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI970" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2102/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2102/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2102/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2102/gene/?format=api" }, "data": { "type": "Gene", "id": "VAPB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2102/?format=api" } }, { "type": "SmallVariant", "id": "2103", "attributes": { "frequencies": { "KGP_genomes_maf": 0.1108, "KGP_genomes_AFR_maf": 0.0378, "KGP_genomes_AMR_maf": 0.1657, "KGP_genomes_EAS_maf": 0.2718, "KGP_genomes_EUR_maf": 0.0905, "KGP_genomes_SAS_maf": 0.0256, "gnomad_maf": 0.102, "gnomad_AFR_maf": 0.03578, "gnomad_AMR_maf": 0.1592, "gnomad_ASJ_maf": 0.07379, "gnomad_EAS_maf": 0.2585, "gnomad_FIN_maf": 0.07222, "gnomad_NFE_maf": 0.08699, "gnomad_OTH_maf": 0.1061, "gnomad_SAS_maf": 0.03288, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.209779, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 57022110, "genomic_position_hg38": 58447054, "chromosome": "20", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.232265", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.*2819A>G", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI970" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2103/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2103/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2103/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2103/gene/?format=api" }, "data": { "type": "Gene", "id": "VAPB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2103/?format=api" } }, { "type": "SmallVariant", "id": "2104", "attributes": { "frequencies": { "KGP_genomes_maf": 0.1396, "KGP_genomes_AFR_maf": 0.1241, "KGP_genomes_AMR_maf": 0.1816, "KGP_genomes_EAS_maf": 0.2728, "KGP_genomes_EUR_maf": 0.1054, "KGP_genomes_SAS_maf": 0.0286, "gnomad_maf": 0.1116, "gnomad_AFR_maf": 0.1066, "gnomad_AMR_maf": 0.1683, "gnomad_ASJ_maf": 0.0745, "gnomad_EAS_maf": 0.2589, "gnomad_FIN_maf": 0.07931, "gnomad_NFE_maf": 0.09727, "gnomad_OTH_maf": 0.1148, "gnomad_SAS_maf": 0.03373, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.178397, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 57023811, "genomic_position_hg38": 58448755, "chromosome": "20", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.238588", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.*4520T>C", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI970" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2104/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2104/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2104/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2104/gene/?format=api" }, "data": { "type": "Gene", "id": "VAPB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2104/?format=api" } }, { "type": "SmallVariant", "id": "2086", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": 0.7526, "KGP_genomes_AMR_maf": 0.4986, "KGP_genomes_EAS_maf": 0.6657, "KGP_genomes_EUR_maf": 0.2903, "KGP_genomes_SAS_maf": 0.4243, "gnomad_maf": 0.3784, "gnomad_AFR_maf": 0.6788, "gnomad_AMR_maf": 0.4952, "gnomad_ASJ_maf": 0.3073, "gnomad_EAS_maf": 0.6594, "gnomad_FIN_maf": 0.2769, "gnomad_NFE_maf": 0.2814, "gnomad_OTH_maf": 0.3353, "gnomad_SAS_maf": 0.3824, "ESP_AA_maf": 0.6605, "ESP_EA_maf": 0.285 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.073767, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 94937446, "genomic_position_hg38": 95308134, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.125586", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.575A>G", "protein_change": "p.Gln192Arg", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI965" }, { "type": "Combination", "id": "OLI967" }, { "type": "Combination", "id": "OLI969" }, { "type": "Combination", "id": "OLI970" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2086/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2086/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2086/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2086/gene/?format=api" }, "data": { "type": "Gene", "id": "PON1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2086/?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": 9 } }