Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI601/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": "1288", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0052, "KGP_genomes_AFR_maf": 0.0174, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002092, "gnomad_AFR_maf": 0.01163, "gnomad_AMR_maf": 0.001418, "gnomad_ASJ_maf": 0.000199, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0007392, "gnomad_NFE_maf": 0.002216, "gnomad_OTH_maf": 0.002943, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.01226, "ESP_EA_maf": 0.001395 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.095735, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 16436324, "genomic_position_hg38": 16436326, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.238536", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1868C>A", "protein_change": "p.Pro623His", "transcript_id": "NM_017637.5", "dbsnp_id": "rs114596065", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI601" }, { "type": "Combination", "id": "OLI602" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1288/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1288/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1288/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1288/gene/?format=api" }, "data": { "type": "Gene", "id": "BNC2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1288/?format=api" } }, { "type": "SmallVariant", "id": "1289", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0182, "KGP_genomes_AFR_maf": 0.0681, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003639, "gnomad_AFR_maf": 0.05186, "gnomad_AMR_maf": 0.001976, "gnomad_ASJ_maf": 0.0003016, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.000101, "gnomad_OTH_maf": 0.002484, "gnomad_SAS_maf": 3.288e-05, "ESP_AA_maf": 0.04315, "ESP_EA_maf": 0.0001168 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 1.841402, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44388817, "genomic_position_hg38": 44388715, "chromosome": "5", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.244866", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.-33G>A", "protein_change": null, "transcript_id": "NM_004465.2", "dbsnp_id": "rs17233910", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI601" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1289/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1289/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1289/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1289/gene/?format=api" }, "data": { "type": "Gene", "id": "FGF10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1289/?format=api" } }, { "type": "SmallVariant", "id": "1290", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0124, "KGP_genomes_AFR_maf": 0.0439, "KGP_genomes_AMR_maf": 0.0058, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003038, "gnomad_AFR_maf": 0.04187, "gnomad_AMR_maf": 0.001128, "gnomad_ASJ_maf": 0.0006951, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002908, "gnomad_OTH_maf": 0.001473, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": 0.04244, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.986069, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 119964831, "genomic_position_hg38": 119422208, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.251160", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.707T>C", "protein_change": "p.Leu236Ser", "transcript_id": "NM_000198.3", "dbsnp_id": "rs35887327", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI601" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1290/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1290/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1290/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1290/gene/?format=api" }, "data": { "type": "Gene", "id": "HSD3B2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1290/?format=api" } }, { "type": "SmallVariant", "id": "1291", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0184, "KGP_genomes_AFR_maf": 0.0613, "KGP_genomes_AMR_maf": 0.0058, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.007434, "gnomad_AFR_maf": 0.05435, "gnomad_AMR_maf": 0.008408, "gnomad_ASJ_maf": 0.004863, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0008233, "gnomad_NFE_maf": 0.005185, "gnomad_OTH_maf": 0.008159, "gnomad_SAS_maf": 0.00115, "ESP_AA_maf": 0.04372, "ESP_EA_maf": 0.00421 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.867149, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 54967040, "genomic_position_hg38": 54933128, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.257329", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.707C>T", "protein_change": "p.Pro236Leu", "transcript_id": "NM_005853.5", "dbsnp_id": "rs115549200", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI601" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1291/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1291/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1291/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1291/gene/?format=api" }, "data": { "type": "Gene", "id": "IRX5" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1291/?format=api" } }, { "type": "SmallVariant", "id": "1292", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0142, "KGP_genomes_AFR_maf": 0.0507, "KGP_genomes_AMR_maf": 0.0058, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003583, "gnomad_AFR_maf": 0.051, "gnomad_AMR_maf": 0.002028, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.643e-05, "gnomad_NFE_maf": 0.0001507, "gnomad_OTH_maf": 0.001655, "gnomad_SAS_maf": 0.0001634, "ESP_AA_maf": 0.05031, "ESP_EA_maf": 0.0002416 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.925982, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 95826473, "genomic_position_hg38": 96093309, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.263528", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.722G>A", "protein_change": "p.Arg241Gln", "transcript_id": "NM_032427.3", "dbsnp_id": "rs111958464", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI601" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1292/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1292/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1292/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1292/gene/?format=api" }, "data": { "type": "Gene", "id": "MAML2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1292/?format=api" } }, { "type": "SmallVariant", "id": "1293", "attributes": { "frequencies": { "KGP_genomes_maf": 0.011, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.008, "KGP_genomes_SAS_maf": 0.046, "gnomad_maf": 0.01105, "gnomad_AFR_maf": 0.001423, "gnomad_AMR_maf": 0.004159, "gnomad_ASJ_maf": 0.005131, "gnomad_EAS_maf": 0.0001647, "gnomad_FIN_maf": 0.002344, "gnomad_NFE_maf": 0.007631, "gnomad_OTH_maf": 0.01289, "gnomad_SAS_maf": 0.05166, "ESP_AA_maf": 0.001135, "ESP_EA_maf": 0.006977 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.50846, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 120469147, "genomic_position_hg38": 119926524, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.269839", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.3980A>G", "protein_change": "p.Asp1327Gly", "transcript_id": "NM_024408.3", "dbsnp_id": "rs61752484", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI601" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1293/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1293/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1293/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1293/gene/?format=api" }, "data": { "type": "Gene", "id": "NOTCH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1293/?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": 7 } }