Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI723/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1589", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0076, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0072, "KGP_genomes_EAS_maf": 0.003, "KGP_genomes_EUR_maf": 0.007, "KGP_genomes_SAS_maf": 0.0235, "gnomad_maf": 0.008905, "gnomad_AFR_maf": 0.001353, "gnomad_AMR_maf": 0.003498, "gnomad_ASJ_maf": 0.02203, "gnomad_EAS_maf": 0.0006524, "gnomad_FIN_maf": 0.02171, "gnomad_NFE_maf": 0.006139, "gnomad_OTH_maf": 0.01059, "gnomad_SAS_maf": 0.02054, "ESP_AA_maf": 0.001362, "ESP_EA_maf": 0.004651 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.761017, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 236180498, "genomic_position_hg38": 236017198, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.091852", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2204G>A", "protein_change": "p.Arg735His", "transcript_id": "NM_002508.2", "dbsnp_id": "rs140374909", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI723" }, { "type": "Combination", "id": "OLI751" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1589/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1589/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1589/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1589/gene/?format=api" }, "data": { "type": "Gene", "id": "NID1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1589/?format=api" } }, { "type": "SmallVariant", "id": "1590", "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": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.320088, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 21992958, "genomic_position_hg38": 21524824, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.098073", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.499C>A", "protein_change": "p.Pro167Thr", "transcript_id": "NM_005407.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI723" }, { "type": "Combination", "id": "OLI732" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1590/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1590/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1590/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1590/gene/?format=api" }, "data": { "type": "Gene", "id": "SALL2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1590/?format=api" } }, { "type": "SmallVariant", "id": "1591", "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": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 8.754e-05, "gnomad_AFR_maf": 0.0001231, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0005957, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001386, "gnomad_NFE_maf": 7.034e-05, "gnomad_OTH_maf": 0.000163, "gnomad_SAS_maf": 6.536e-05, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.869119, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 26100230, "genomic_position_hg38": 27773204, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:50.104500", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1516C>T", "protein_change": "p.Arg506Trp", "transcript_id": "NM_000625.4", "dbsnp_id": "rs146104261", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI723" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1591/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1591/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1591/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1591/gene/?format=api" }, "data": { "type": "Gene", "id": "NOS2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1591/?format=api" } }, { "type": "SmallVariant", "id": "1592", "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": 1.313e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0001258, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.599e-05, "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": 3.034496, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 144887545, "genomic_position_hg38": 143805375, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.110743", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2407G>A", "protein_change": "p.Ala803Thr", "transcript_id": "NM_015356.4", "dbsnp_id": "rs900125584", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI723" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1592/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1592/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1592/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1592/gene/?format=api" }, "data": { "type": "Gene", "id": "SCRIB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1592/?format=api" } }, { "type": "SmallVariant", "id": "1593", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.004808, "gnomad_AFR_maf": 0.001107, "gnomad_AMR_maf": 0.001792, "gnomad_ASJ_maf": 0.005655, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01123, "gnomad_NFE_maf": 0.006964, "gnomad_OTH_maf": 0.004405, "gnomad_SAS_maf": 0.0003267, "ESP_AA_maf": 0.001135, "ESP_EA_maf": 0.007791 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.218558, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 103002466, "genomic_position_hg38": 100240184, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.116922", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.740A>G", "protein_change": "p.Asn247Ser", "transcript_id": "NM_014425.4", "dbsnp_id": "rs41312220", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI723" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1593/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1593/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1593/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1593/gene/?format=api" }, "data": { "type": "Gene", "id": "INVS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1593/?format=api" } }, { "type": "SmallVariant", "id": "1594", "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": 6.079e-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": 1.382e-05, "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": 2.725615, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 9859044, "genomic_position_hg38": 9891004, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.123130", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.345C>A", "protein_change": "p.His115Gln", "transcript_id": "NM_001649.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI723" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1594/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1594/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1594/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1594/gene/?format=api" }, "data": { "type": "Gene", "id": "SHROOM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1594/?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 } }