Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1544/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3223", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0014, "KGP_genomes_AFR_maf": 0.003, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001234, "gnomad_AFR_maf": 0.003928, "gnomad_AMR_maf": 0.004059, "gnomad_ASJ_maf": 0.00101, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0006892, "gnomad_OTH_maf": 0.002876, "gnomad_SAS_maf": 9.954e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.483338, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 61777914, "genomic_position_hg38": 60865355, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.818811", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.8416C>G", "protein_change": "p.Leu2806Val", "transcript_id": "NM_017780", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1534" }, { "type": "Combination", "id": "OLI1536" }, { "type": "Combination", "id": "OLI1544" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3223/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3223/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3223/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3223/gene/?format=api" }, "data": { "type": "Gene", "id": "CHD7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3223/?format=api" } }, { "type": "SmallVariant", "id": "2725", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0005925, "gnomad_AFR_maf": 0.001292, "gnomad_AMR_maf": 0.001417, "gnomad_ASJ_maf": 0.002083, "gnomad_EAS_maf": 0.0002175, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0003692, "gnomad_OTH_maf": 0.001954, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.012438, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 5294763, "genomic_position_hg38": 5314117, "chromosome": "20", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.865114", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.253C>T", "protein_change": "p.Arg85Cys", "transcript_id": "NM_144773.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 7 }, "data": [ { "type": "Combination", "id": "OLI1297" }, { "type": "Combination", "id": "OLI1525" }, { "type": "Combination", "id": "OLI1544" }, { "type": "Combination", "id": "OLI1547" }, { "type": "Combination", "id": "OLI1548" }, { "type": "Combination", "id": "OLI1558" }, { "type": "Combination", "id": "OLI1567" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2725/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2725/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2725/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2725/gene/?format=api" }, "data": { "type": "Gene", "id": "PROKR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2725/?format=api" } }, { "type": "SmallVariant", "id": "3247", "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": "Damaging", "cadd_prediction": 4.615537, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 3457374, "genomic_position_hg38": 3457376, "chromosome": "18", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.969691", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.195G>C", "protein_change": "p.Trp65Cys", "transcript_id": "NM_170695", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1544" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3247/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3247/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3247/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3247/gene/?format=api" }, "data": { "type": "Gene", "id": "TGIF1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3247/?format=api" } }, { "type": "SmallVariant", "id": "3158", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0005, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0038, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0002917, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0003658, "gnomad_ASJ_maf": 0.004029, "gnomad_EAS_maf": 7.254e-05, "gnomad_FIN_maf": 6.303e-05, "gnomad_NFE_maf": 8.655e-05, "gnomad_OTH_maf": 0.0004446, "gnomad_SAS_maf": 0.0001064, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.647021, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 8536293, "genomic_position_hg38": 8568252, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.431167", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1187C>T", "protein_change": "p.Ser396Leu", "transcript_id": "NM_000216", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1509" }, { "type": "Combination", "id": "OLI1544" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3158/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3158/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3158/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3158/gene/?format=api" }, "data": { "type": "Gene", "id": "ANOS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3158/?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": 4 } }