Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1471/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3096", "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": 0.0, "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": 0.0, "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": 0.822155, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73664853, "genomic_position_hg38": 73198145, "chromosome": "14", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.071729", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.868+16G>A", "protein_change": null, "transcript_id": "NM_000021.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1470" }, { "type": "Combination", "id": "OLI1471" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3096/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3096/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3096/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3096/gene/?format=api" }, "data": { "type": "Gene", "id": "PSEN1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3096/?format=api" } }, { "type": "SmallVariant", "id": "3098", "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": 3.642913, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44073870, "genomic_position_hg38": 45996504, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.083624", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1667G>C", "protein_change": "p.Arg556Pro", "transcript_id": "NM_001123066.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1470" }, { "type": "Combination", "id": "OLI1471" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3098/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3098/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3098/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3098/gene/?format=api" }, "data": { "type": "Gene", "id": "MAPT" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3098/?format=api" } }, { "type": "SmallVariant", "id": "3099", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0226, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.1254, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0129, "KGP_genomes_SAS_maf": 0.0112, "gnomad_maf": 0.0207, "gnomad_AFR_maf": 0.003235, "gnomad_AMR_maf": 0.0965, "gnomad_ASJ_maf": 0.003913, "gnomad_EAS_maf": 0.0001089, "gnomad_FIN_maf": 0.0245, "gnomad_NFE_maf": 0.007906, "gnomad_OTH_maf": 0.01809, "gnomad_SAS_maf": 0.006909, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.390631, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1050996, "genomic_position_hg38": 1050997, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.089629", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2629G>A", "protein_change": "p.Ala877Thr", "transcript_id": "NM_001142929.2", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1470" }, { "type": "Combination", "id": "OLI1471" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3099/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3099/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3099/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3099/gene/?format=api" }, "data": { "type": "Gene", "id": "CHAT" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3099/?format=api" } }, { "type": "SmallVariant", "id": "3101", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0062, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0086, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0119, "KGP_genomes_SAS_maf": 0.0112, "gnomad_maf": 0.01238, "gnomad_AFR_maf": 0.003137, "gnomad_AMR_maf": 0.006014, "gnomad_ASJ_maf": 0.005755, "gnomad_EAS_maf": 0.0005982, "gnomad_FIN_maf": 0.00426, "gnomad_NFE_maf": 0.02003, "gnomad_OTH_maf": 0.01434, "gnomad_SAS_maf": 0.01062, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.8811, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 151270231, "genomic_position_hg38": 150949095, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.101983", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1691G>A", "protein_change": "p.Arg564His", "transcript_id": "NM_001242767.1", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1471" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3101/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3101/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3101/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3101/gene/?format=api" }, "data": { "type": "Gene", "id": "MTHFD1L" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3101/?format=api" } }, { "type": "SmallVariant", "id": "3100", "attributes": { "frequencies": { "KGP_genomes_maf": 0.1506, "KGP_genomes_AFR_maf": 0.2678, "KGP_genomes_AMR_maf": 0.1037, "KGP_genomes_EAS_maf": 0.0863, "KGP_genomes_EUR_maf": 0.1551, "KGP_genomes_SAS_maf": 0.0869, "gnomad_maf": 0.1385, "gnomad_AFR_maf": 0.2238, "gnomad_AMR_maf": 0.1026, "gnomad_ASJ_maf": 0.115, "gnomad_EAS_maf": 0.0874, "gnomad_FIN_maf": 0.2087, "gnomad_NFE_maf": 0.1501, "gnomad_OTH_maf": 0.1312, "gnomad_SAS_maf": 0.1004, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.810963, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45411941, "genomic_position_hg38": 44908684, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.095770", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.388T>C", "protein_change": "p.Cys130Arg", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1470" }, { "type": "Combination", "id": "OLI1471" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3100/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3100/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3100/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3100/gene/?format=api" }, "data": { "type": "Gene", "id": "APOE" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3100/?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": 5 } }