Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI600/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1283", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0185, "KGP_genomes_AFR_maf": 0.0688, "KGP_genomes_AMR_maf": 0.0019, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.00541, "gnomad_AFR_maf": 0.0656, "gnomad_AMR_maf": 0.003613, "gnomad_ASJ_maf": 0.0001347, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001505, "gnomad_OTH_maf": 0.00177, "gnomad_SAS_maf": 0.0001051, "ESP_AA_maf": 0.05789, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.154796, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 149638886, "genomic_position_hg38": 150470614, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.207455", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1041C>A", "protein_change": "p.His347Gln", "transcript_id": "NM_005491.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI600" }, { "type": "Combination", "id": "OLI601" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1283/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1283/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1283/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1283/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1283/?format=api" } }, { "type": "SmallVariant", "id": "1284", "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": 6.263106, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73559034, "genomic_position_hg38": 71799277, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.213836", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.7221C>A", "protein_change": "p.Tyr2407Ter", "transcript_id": "NM_022124.5", "dbsnp_id": "rs779038178", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI600" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1284/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1284/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1284/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1284/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1284/?format=api" } }, { "type": "SmallVariant", "id": "1285", "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": 1.399e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 4.168e-05, "gnomad_ASJ_maf": 0.0001223, "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": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.246779, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 61448956, "genomic_position_hg38": 62817604, "chromosome": "20", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.219969", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.116C>G", "protein_change": "p.Pro39Arg", "transcript_id": "NM_001853.3", "dbsnp_id": "rs1028982816", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI600" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1285/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1285/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1285/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1285/gene/?format=api" }, "data": { "type": "Gene", "id": "COL9A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1285/?format=api" } }, { "type": "SmallVariant", "id": "1286", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003213, "gnomad_AFR_maf": 0.001049, "gnomad_AMR_maf": 0.0007666, "gnomad_ASJ_maf": 0.0004137, "gnomad_EAS_maf": 0.0002187, "gnomad_FIN_maf": 0.001025, "gnomad_NFE_maf": 0.006198, "gnomad_OTH_maf": 0.002338, "gnomad_SAS_maf": 0.0004671, "ESP_AA_maf": 0.001816, "ESP_EA_maf": 0.008256 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.046031, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 179193385, "genomic_position_hg38": 179766384, "chromosome": "5", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:48.226215", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1374C>T", "protein_change": "p.Asp458=", "transcript_id": "NM_014757.4", "dbsnp_id": "rs61748799", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI600" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1286/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1286/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1286/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1286/gene/?format=api" }, "data": { "type": "Gene", "id": "MAML1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1286/?format=api" } }, { "type": "SmallVariant", "id": "1287", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "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": 8.904e-05, "gnomad_AFR_maf": 6.557e-05, "gnomad_AMR_maf": 0.0004356, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.481e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.27e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.400792, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 139401803, "genomic_position_hg38": 136507351, "chromosome": "9", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:48.232387", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.3597C>T", "protein_change": "p.Leu1199=", "transcript_id": "NM_017617.4", "dbsnp_id": "rs150666307", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI600" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1287/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1287/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1287/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1287/gene/?format=api" }, "data": { "type": "Gene", "id": "NOTCH1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1287/?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 } }