Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI332/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "638", "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": 1.193e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.619e-05, "gnomad_NFE_maf": 1.758e-05, "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": "Possibly Damaging", "cadd_prediction": 3.0021, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33039600, "genomic_position_hg38": 31667287, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.253400", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Ala90Val", "transcript_id": null, "dbsnp_id": "rs1280042397", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 8 }, "data": [ { "type": "Combination", "id": "OLI328" }, { "type": "Combination", "id": "OLI329" }, { "type": "Combination", "id": "OLI330" }, { "type": "Combination", "id": "OLI331" }, { "type": "Combination", "id": "OLI332" }, { "type": "Combination", "id": "OLI333" }, { "type": "Combination", "id": "OLI334" }, { "type": "Combination", "id": "OLI335" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/638/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/638/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/638/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/638/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/638/?format=api" } }, { "type": "SmallVariant", "id": "673", "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": 2.47e-05, "gnomad_AFR_maf": 0.0001264, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.492e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.743e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.16059, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 32222250, "genomic_position_hg38": 31756649, "chromosome": "1", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.486719", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.188C>T", "protein_change": "p.Ser63Leu", "transcript_id": "NM_001294335.2", "dbsnp_id": "rs367550636", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI332" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/673/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/673/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/673/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/673/gene/?format=api" }, "data": { "type": "Gene", "id": "ADGRB2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/673/?format=api" } }, { "type": "SmallVariant", "id": "674", "attributes": { "frequencies": { "KGP_genomes_maf": 0.002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.005013, "gnomad_AFR_maf": 0.001301, "gnomad_AMR_maf": 0.002114, "gnomad_ASJ_maf": 0.0007622, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.004346, "gnomad_NFE_maf": 0.007966, "gnomad_OTH_maf": 0.006669, "gnomad_SAS_maf": 0.004264, "ESP_AA_maf": 0.001947, "ESP_EA_maf": 0.00798 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 1.941973, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1263819, "genomic_position_hg38": 1213819, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.493345", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.4817C>T", "protein_change": "p.Thr1606Met", "transcript_id": "NM_021098.2", "dbsnp_id": "rs59286323", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI332" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/674/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/674/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/674/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/674/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1H" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/674/?format=api" } }, { "type": "SmallVariant", "id": "675", "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": 6.413e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.000615, "gnomad_NFE_maf": 2.907e-05, "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": 0.927747, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 7348487, "genomic_position_hg38": 7445168, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.500050", "ref_allele": "GGGC", "alt_allele": "G", "cdna_change": "c.42_44del", "protein_change": "p.14_15del", "transcript_id": "NM_000747.3", "dbsnp_id": "rs767124946", "variant_effect": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI332" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/675/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/675/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/675/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/675/gene/?format=api" }, "data": { "type": "Gene", "id": "CHRNB1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/675/?format=api" } }, { "type": "SmallVariant", "id": "676", "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": 6.434e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0006193, "gnomad_NFE_maf": 2.919e-05, "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": 2.278526, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 7348490, "genomic_position_hg38": 7445171, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.506755", "ref_allele": "C", "alt_allele": "CAA", "cdna_change": "c.44_45insAA", "protein_change": "p.Ala15fs", "transcript_id": "NM_000747.3", "dbsnp_id": "rs752322425", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI332" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/676/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/676/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/676/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/676/gene/?format=api" }, "data": { "type": "Gene", "id": "CHRNB1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/676/?format=api" } }, { "type": "SmallVariant", "id": "677", "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": 2.806e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0002783, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.000165, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.46308, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 88450805, "genomic_position_hg38": 87984461, "chromosome": "14", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.513396", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.437C>T", "protein_change": "p.Ala146Val", "transcript_id": "NM_001201402.2", "dbsnp_id": "rs763635404", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI332" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/677/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/677/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/677/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/677/gene/?format=api" }, "data": { "type": "Gene", "id": "GALC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/677/?format=api" } }, { "type": "SmallVariant", "id": "678", "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": 8.442e-05, "gnomad_AFR_maf": 6.456e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001392, "gnomad_NFE_maf": 0.0001422, "gnomad_OTH_maf": 0.0001649, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.159303, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 3231719, "genomic_position_hg38": 3229992, "chromosome": "4", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.520018", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.8215G>A", "protein_change": "p.Ala2739Thr", "transcript_id": "NM_002111.8", "dbsnp_id": "rs772607321", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI332" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/678/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/678/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/678/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/678/gene/?format=api" }, "data": { "type": "Gene", "id": "HTT" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/678/?format=api" } }, { "type": "SmallVariant", "id": "679", "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": 0.0001768, "gnomad_AFR_maf": 0.0001937, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001069, "gnomad_NFE_maf": 0.0001508, "gnomad_OTH_maf": 0.0001655, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001205 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.42354, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 4776859, "genomic_position_hg38": 4735175, "chromosome": "3", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.526698", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5320G>A", "protein_change": "p.Gly1774Arg", "transcript_id": "NM_001168272.2", "dbsnp_id": "rs373359869", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI332" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/679/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/679/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/679/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/679/gene/?format=api" }, "data": { "type": "Gene", "id": "ITPR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/679/?format=api" } }, { "type": "SmallVariant", "id": "680", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0005, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0026, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002027, "gnomad_AFR_maf": 0.00038, "gnomad_AMR_maf": 7.312e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.004262, "gnomad_NFE_maf": 0.003429, "gnomad_OTH_maf": 0.002212, "gnomad_SAS_maf": 0.0003145, "ESP_AA_maf": 0.0007827, "ESP_EA_maf": 0.001784 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.919778, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 37587488, "genomic_position_hg38": 37728235, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.533265", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.1108T>G", "protein_change": "p.Tyr370Asp", "transcript_id": "NM_021083.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI332" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/680/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/680/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/680/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/680/gene/?format=api" }, "data": { "type": "Gene", "id": "XK" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/680/?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": 9 } }