Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI575/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "41", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "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": 0.002252, "gnomad_AFR_maf": 0.0005544, "gnomad_AMR_maf": 0.002113, "gnomad_ASJ_maf": 0.002878, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.000185, "gnomad_NFE_maf": 0.003825, "gnomad_OTH_maf": 0.001631, "gnomad_SAS_maf": 0.000196, "ESP_AA_maf": 0.001589, "ESP_EA_maf": 0.003256 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.987252, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 37816112, "genomic_position_hg38": 37816010, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.763790", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.277C>T", "protein_change": "p.Arg93Trp", "transcript_id": "NM_000514.3", "dbsnp_id": "rs36119840", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI021" }, { "type": "Combination", "id": "OLI575" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/41/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/41/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/41/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/41/gene/?format=api" }, "data": { "type": "Gene", "id": "GDNF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/41/?format=api" } }, { "type": "SmallVariant", "id": "1214", "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": 3.070477, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127262624, "genomic_position_hg38": 124500345, "chromosome": "9", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.819059", "ref_allele": "T", "alt_allele": "TG", "cdna_change": "c.614_615insC", "protein_change": "p.Gln206ThrfsTer20", "transcript_id": "NM_004959", "dbsnp_id": "rs1234904066", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI575" }, { "type": "Combination", "id": "OLI668" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1214/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1214/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1214/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1214/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1214/?format=api" } }, { "type": "SmallVariant", "id": "1215", "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": 0.002028, "gnomad_AFR_maf": 0.0007392, "gnomad_AMR_maf": 0.001345, "gnomad_ASJ_maf": 0.0004589, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0002606, "gnomad_NFE_maf": 0.003629, "gnomad_OTH_maf": 0.001645, "gnomad_SAS_maf": 4.649e-05, "ESP_AA_maf": 0.001193, "ESP_EA_maf": 0.005084 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.331159, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 61769418, "genomic_position_hg38": 60856859, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.825128", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.7579A>C", "protein_change": "p.Met2527Leu", "transcript_id": "NM_017780.3", "dbsnp_id": "rs192129249", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI575" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1215/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1215/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1215/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1215/gene/?format=api" }, "data": { "type": "Gene", "id": "CHD7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1215/?format=api" } }, { "type": "SmallVariant", "id": "1216", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0032, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0101, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0089, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.005068, "gnomad_AFR_maf": 0.001491, "gnomad_AMR_maf": 0.004726, "gnomad_ASJ_maf": 0.003818, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001035, "gnomad_NFE_maf": 0.008087, "gnomad_OTH_maf": 0.009362, "gnomad_SAS_maf": 0.001886, "ESP_AA_maf": 0.001828, "ESP_EA_maf": 0.009476 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.094248, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 126144390, "genomic_position_hg38": 123382111, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.831057", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.2351C>A", "protein_change": "p.Ala784Asp", "transcript_id": "NM_020946.1", "dbsnp_id": "rs189947178", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI575" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1216/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1216/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1216/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1216/gene/?format=api" }, "data": { "type": "Gene", "id": "DENND1A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1216/?format=api" } }, { "type": "SmallVariant", "id": "1217", "attributes": { "frequencies": { "KGP_genomes_maf": 0.007, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0476, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.009701, "gnomad_AFR_maf": 0.0006164, "gnomad_AMR_maf": 0.0545, "gnomad_ASJ_maf": 9.932e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.006376, "gnomad_NFE_maf": 0.00245, "gnomad_OTH_maf": 0.008975, "gnomad_SAS_maf": 0.002254, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.001047 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.230653, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 121747823, "genomic_position_hg38": 120990247, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.837235", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.4333C>T", "protein_change": "p.Leu1445Phe", "transcript_id": "NM_005270.4", "dbsnp_id": "rs146207623", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI575" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1217/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1217/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1217/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1217/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1217/?format=api" } }, { "type": "SmallVariant", "id": "1218", "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": "Benign", "cadd_prediction": 3.101267, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 157073662, "genomic_position_hg38": 157646654, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.843350", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.455C>T", "protein_change": "p.Pro152Leu", "transcript_id": "NM_178424.1", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI575" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1218/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1218/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1218/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1218/gene/?format=api" }, "data": { "type": "Gene", "id": "SOX30" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1218/?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": 6 } }