Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI573/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1199", "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": 4.402597, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127265604, "genomic_position_hg38": 124503325, "chromosome": "9", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.728989", "ref_allele": "TG", "alt_allele": "T", "cdna_change": "c.70delC", "protein_change": "p.His24ThrfsTer51", "transcript_id": "NM_004959", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI573" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1199/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1199/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1199/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1199/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1199/?format=api" } }, { "type": "SmallVariant", "id": "1200", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001666, "gnomad_AFR_maf": 0.0001845, "gnomad_AMR_maf": 0.002602, "gnomad_ASJ_maf": 0.0001985, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.619e-05, "gnomad_NFE_maf": 0.002708, "gnomad_OTH_maf": 0.002444, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.223913, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5141619, "genomic_position_hg38": 5099427, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.734742", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.548A>G", "protein_change": "p.Lys183Arg", "transcript_id": "NM_001253908.1", "dbsnp_id": "rs61730879", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI573" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1200/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1200/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1200/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1200/gene/?format=api" }, "data": { "type": "Gene", "id": "AKR1C3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1200/?format=api" } }, { "type": "SmallVariant", "id": "1201", "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": 1.99e-05, "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": 4.401e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.463906, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 334238, "genomic_position_hg38": 334238, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.740684", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1139T>C", "protein_change": "p.Ile380Thr", "transcript_id": "NM_203447.3", "dbsnp_id": "rs577932942", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI573" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1201/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1201/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1201/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1201/gene/?format=api" }, "data": { "type": "Gene", "id": "DOCK8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1201/?format=api" } }, { "type": "SmallVariant", "id": "1202", "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": 3.994e-06, "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": 8.853e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.104846, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 49190428, "genomic_position_hg38": 48963289, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.746447", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1532A>G", "protein_change": "p.Tyr511Cys", "transcript_id": "NM_000145.3", "dbsnp_id": "rs764264620", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI573" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1202/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1202/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1202/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1202/gene/?format=api" }, "data": { "type": "Gene", "id": "FSHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1202/?format=api" } }, { "type": "SmallVariant", "id": "1203", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0007652, "gnomad_AFR_maf": 0.0003084, "gnomad_AMR_maf": 0.0005505, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.252e-05, "gnomad_NFE_maf": 0.001374, "gnomad_OTH_maf": 0.001143, "gnomad_SAS_maf": 9.83e-05, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.001977 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.984146, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 15942948, "genomic_position_hg38": 16039634, "chromosome": "17", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.752340", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.6754C>T", "protein_change": "p.His2252Tyr", "transcript_id": "NM_006311.3", "dbsnp_id": "rs61755986", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI573" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1203/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1203/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1203/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1203/gene/?format=api" }, "data": { "type": "Gene", "id": "NCOR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1203/?format=api" } }, { "type": "SmallVariant", "id": "1204", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "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": 0.001, "gnomad_maf": 0.006672, "gnomad_AFR_maf": 0.00136, "gnomad_AMR_maf": 0.002306, "gnomad_ASJ_maf": 0.008109, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.005623, "gnomad_NFE_maf": 0.01142, "gnomad_OTH_maf": 0.009609, "gnomad_SAS_maf": 0.0007656, "ESP_AA_maf": 0.002497, "ESP_EA_maf": 0.01209 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.734927, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 15950400, "genomic_position_hg38": 16047086, "chromosome": "17", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.758368", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.6544G>A", "protein_change": "p.Ala2182Thr", "transcript_id": "NM_006311.3", "dbsnp_id": "rs61753149", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI573" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1204/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1204/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1204/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1204/gene/?format=api" }, "data": { "type": "Gene", "id": "NCOR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1204/?format=api" } }, { "type": "SmallVariant", "id": "1205", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 4.65e-05, "gnomad_AFR_maf": 6.726e-05, "gnomad_AMR_maf": 2.908e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.173e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.750128, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 75614391, "genomic_position_hg38": 75985073, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.764511", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.1264T>G", "protein_change": "p.Trp422Gly", "transcript_id": "NM_000941.2", "dbsnp_id": "rs536353066", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI573" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1205/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1205/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1205/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1205/gene/?format=api" }, "data": { "type": "Gene", "id": "POR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1205/?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 } }