Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1315/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2754", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001156, "gnomad_AFR_maf": 0.0007405, "gnomad_AMR_maf": 8.677e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001088, "gnomad_FIN_maf": 0.0001388, "gnomad_NFE_maf": 5.293e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 9.801e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.032187, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 20763294, "genomic_position_hg38": 20189155, "chromosome": "13", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.041041", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.427C>T", "protein_change": "p.Arg143Trp", "transcript_id": "NM_004004.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1313" }, { "type": "Combination", "id": "OLI1315" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2754/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2754/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2754/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2754/gene/?format=api" }, "data": { "type": "Gene", "id": "GJB2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2754/?format=api" } }, { "type": "SmallVariant", "id": "2755", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.860717, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 20763485, "genomic_position_hg38": 20189346, "chromosome": "13", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.047066", "ref_allele": "AG", "alt_allele": "A", "cdna_change": "c.235delC", "protein_change": "p.Leu79fs", "transcript_id": "NM_004004.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 5 }, "data": [ { "type": "Combination", "id": "OLI1313" }, { "type": "Combination", "id": "OLI1314" }, { "type": "Combination", "id": "OLI1315" }, { "type": "Combination", "id": "OLI1317" }, { "type": "Combination", "id": "OLI1318" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2755/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2755/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2755/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2755/gene/?format=api" }, "data": { "type": "Gene", "id": "GJB2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2755/?format=api" } }, { "type": "SmallVariant", "id": "283", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0154, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0734, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.00772, "gnomad_AFR_maf": 0.0008612, "gnomad_AMR_maf": 0.002632, "gnomad_ASJ_maf": 0.008058, "gnomad_EAS_maf": 0.08274, "gnomad_FIN_maf": 0.001803, "gnomad_NFE_maf": 0.001326, "gnomad_OTH_maf": 0.004407, "gnomad_SAS_maf": 0.0003924, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.00186 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.465987, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 20763612, "genomic_position_hg38": 20189473, "chromosome": "13", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.189394", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.109G>A", "protein_change": "p.Val37Ile", "transcript_id": "NM_004004.5", "dbsnp_id": "rs72474224", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1315" }, { "type": "Combination", "id": "OLI136" }, { "type": "Combination", "id": "OLI137" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/283/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/283/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/283/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/283/gene/?format=api" }, "data": { "type": "Gene", "id": "GJB2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/283/?format=api" } }, { "type": "SmallVariant", "id": "2758", "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": 0.0003076, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.001077, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.002477, "gnomad_FIN_maf": 4.746e-05, "gnomad_NFE_maf": 1.76e-05, "gnomad_OTH_maf": 0.0001678, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 6.962741, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 21747639, "genomic_position_hg38": 21736318, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.065025", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.2359G>T", "protein_change": "p.Glu787Ter", "transcript_id": "NM_144672.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1315" }, { "type": "Combination", "id": "OLI1316" }, { "type": "Combination", "id": "OLI1318" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2758/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2758/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2758/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2758/gene/?format=api" }, "data": { "type": "Gene", "id": "OTOA" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2758/?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 } }