Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1318/variants/?format=api
{ "data": [ { "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": "2762", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0016, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0079, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.000512, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.006913, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001633, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.875314, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 26686837, "genomic_position_hg38": 26463969, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.089263", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.5098G>C", "protein_change": "p.Glu1700Gln", "transcript_id": "NM_001287489", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1318" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2762/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2762/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2762/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2762/gene/?format=api" }, "data": { "type": "Gene", "id": "OTOF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2762/?format=api" } }, { "type": "SmallVariant", "id": "2763", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0014, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0069, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0009286, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.01224, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.663e-05, "gnomad_OTH_maf": 0.0004964, "gnomad_SAS_maf": 0.0001635, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 1.456969, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 179318109, "genomic_position_hg38": 178453382, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.095193", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.-22", "protein_change": null, "transcript_id": "NM_001042702.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1318" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2763/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2763/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2763/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2763/gene/?format=api" }, "data": { "type": "Gene", "id": "PJVK" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2763/?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 } }