Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI729/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1609", "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": 0.0002983, "gnomad_AFR_maf": 6.153e-05, "gnomad_AMR_maf": 0.0002025, "gnomad_ASJ_maf": 9.923e-05, "gnomad_EAS_maf": 0.0001087, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002814, "gnomad_OTH_maf": 0.0003257, "gnomad_SAS_maf": 0.0009799, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0004651 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.428815, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 16943450, "genomic_position_hg38": 16901451, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.217042", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.8071G>A", "protein_change": "p.Gly2691Arg", "transcript_id": "NM_001081.3", "dbsnp_id": "rs1801237", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI729" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1609/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1609/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1609/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1609/gene/?format=api" }, "data": { "type": "Gene", "id": "CUBN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1609/?format=api" } }, { "type": "SmallVariant", "id": "1610", "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": 0.001992, "gnomad_AFR_maf": 0.0004368, "gnomad_AMR_maf": 0.001071, "gnomad_ASJ_maf": 0.009069, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001342, "gnomad_NFE_maf": 0.00278, "gnomad_OTH_maf": 0.002129, "gnomad_SAS_maf": 0.0002614, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.003372 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.95073, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 85674229, "genomic_position_hg38": 85280451, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.223161", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.190C>T", "protein_change": "p.Arg64Cys", "transcript_id": "NM_006982.2", "dbsnp_id": "rs145944049", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI729" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1610/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1610/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1610/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1610/gene/?format=api" }, "data": { "type": "Gene", "id": "ALX1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1610/?format=api" } }, { "type": "SmallVariant", "id": "1611", "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": "Benign", "cadd_prediction": 2.950162, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 48680471, "genomic_position_hg38": 48643038, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.229453", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.8335C>G", "protein_change": "p.Arg2779Gly", "transcript_id": "NM_001407.2", "dbsnp_id": "rs765692240", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI729" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1611/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1611/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1611/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1611/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1611/?format=api" } }, { "type": "SmallVariant", "id": "1612", "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": 0.0001437, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.892e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.442e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002919, "gnomad_OTH_maf": 0.0001635, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.225987, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 48690482, "genomic_position_hg38": 48653049, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.235554", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5587C>T", "protein_change": "p.Arg1863Trp", "transcript_id": "NM_001407.2", "dbsnp_id": "rs142348413", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI729" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1612/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1612/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1612/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1612/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1612/?format=api" } }, { "type": "SmallVariant", "id": "1613", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.003, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003008, "gnomad_AFR_maf": 0.0004927, "gnomad_AMR_maf": 0.0002891, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.008502, "gnomad_NFE_maf": 0.004733, "gnomad_OTH_maf": 0.002607, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.003023 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.200855, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 77659945, "genomic_position_hg38": 76738792, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.242016", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.619C>T", "protein_change": "p.His207Tyr", "transcript_id": "NM_020859.3", "dbsnp_id": "rs139272770", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI729" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1613/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1613/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1613/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1613/gene/?format=api" }, "data": { "type": "Gene", "id": "SHROOM3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1613/?format=api" } }, { "type": "SmallVariant", "id": "1614", "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": 8.128e-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": 1.813e-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": "Benign", "cadd_prediction": 1.762293, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 32946110, "genomic_position_hg38": 32978333, "chromosome": "6", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.248260", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1786G>A", "protein_change": "p.Gly596Ser", "transcript_id": "NM_001113182.2", "dbsnp_id": "rs767566549", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI729" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1614/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1614/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1614/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1614/gene/?format=api" }, "data": { "type": "Gene", "id": "BRD2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1614/?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 } }