Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI597/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1268", "attributes": { "frequencies": { "KGP_genomes_maf": 0.054, "KGP_genomes_AFR_maf": 0.1954, "KGP_genomes_AMR_maf": 0.0153, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.01472, "gnomad_AFR_maf": 0.1787, "gnomad_AMR_maf": 0.00945, "gnomad_ASJ_maf": 0.0001339, "gnomad_EAS_maf": 7.228e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0005889, "gnomad_OTH_maf": 0.006855, "gnomad_SAS_maf": 0.0004719, "ESP_AA_maf": 0.1645, "ESP_EA_maf": 0.0007432 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.386698, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 149639359, "genomic_position_hg38": 150471087, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.113072", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1514T>C", "protein_change": "p.Val505Ala", "transcript_id": "NM_005491.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1268/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1268/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1268/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1268/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1268/?format=api" } }, { "type": "SmallVariant", "id": "1269", "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": "Damaging", "cadd_prediction": 3.437761, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 75013544, "genomic_position_hg38": 74721203, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.119355", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1162C>G", "protein_change": "p.His388Asp", "transcript_id": "NM_000499.4", "dbsnp_id": "rs1567195814", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1269/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1269/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1269/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1269/gene/?format=api" }, "data": { "type": "Gene", "id": "CYP1A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1269/?format=api" } }, { "type": "SmallVariant", "id": "1270", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0023, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.000163, "gnomad_AFR_maf": 0.001661, "gnomad_AMR_maf": 0.0001156, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.396e-05, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0001307, "ESP_AA_maf": 0.002951, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.528086, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5785368, "genomic_position_hg38": 5783641, "chromosome": "4", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:48.125642", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1653G>A", "protein_change": "p.Pro551=", "transcript_id": "NM_153717.2", "dbsnp_id": "rs151293705", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1270/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1270/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1270/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1270/gene/?format=api" }, "data": { "type": "Gene", "id": "EVC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1270/?format=api" } }, { "type": "SmallVariant", "id": "1271", "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": 3.619e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001741, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0003293, "gnomad_SAS_maf": 3.302e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.39468, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 87966142, "genomic_position_hg38": 86206385, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.132038", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.499A>G", "protein_change": "p.Met167Val", "transcript_id": "NM_017551.2", "dbsnp_id": "rs956188880", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1271/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1271/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1271/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1271/gene/?format=api" }, "data": { "type": "Gene", "id": "GRID1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1271/?format=api" } }, { "type": "SmallVariant", "id": "1272", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0003209, "gnomad_AFR_maf": 0.0002726, "gnomad_AMR_maf": 0.0002432, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0006517, "gnomad_OTH_maf": 0.0004669, "gnomad_SAS_maf": 4.399e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.351828, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 139399213, "genomic_position_hg38": 136504761, "chromosome": "9", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:48.138266", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4930C>T", "protein_change": "p.Leu1644=", "transcript_id": "NM_017617.4", "dbsnp_id": "rs568700183", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1272/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1272/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1272/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1272/gene/?format=api" }, "data": { "type": "Gene", "id": "NOTCH1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1272/?format=api" } }, { "type": "SmallVariant", "id": "1273", "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": 1.21e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 8.676e-05, "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.343403, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 43609955, "genomic_position_hg38": 43114507, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.144536", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1907C>T", "protein_change": "p.Thr636Met", "transcript_id": "NM_020975.4", "dbsnp_id": "rs1035958105", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1273/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1273/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1273/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1273/gene/?format=api" }, "data": { "type": "Gene", "id": "RET" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1273/?format=api" } }, { "type": "SmallVariant", "id": "1274", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0008, "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": 4.103e-05, "gnomad_AFR_maf": 6.326e-05, "gnomad_AMR_maf": 2.904e-05, "gnomad_ASJ_maf": 0.0001003, "gnomad_EAS_maf": 5.55e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 5.428e-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": "Damaging", "cadd_prediction": 1.98297, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 43161468, "genomic_position_hg38": 41741308, "chromosome": "21", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.150779", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1885G>A", "protein_change": "p.Asp629Asn", "transcript_id": "NM_020639.2", "dbsnp_id": "rs199669994", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1274/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1274/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1274/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1274/gene/?format=api" }, "data": { "type": "Gene", "id": "RIPK4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1274/?format=api" } }, { "type": "SmallVariant", "id": "1275", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 4.773e-05, "gnomad_AFR_maf": 0.0002461, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 9.923e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.759e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0001633, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.143964, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 43176830, "genomic_position_hg38": 41756670, "chromosome": "21", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.157120", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.329C>T", "protein_change": "p.Ser110Leu", "transcript_id": "NM_020639.2", "dbsnp_id": "rs200823657", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1275/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1275/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1275/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1275/gene/?format=api" }, "data": { "type": "Gene", "id": "RIPK4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1275/?format=api" } }, { "type": "SmallVariant", "id": "1276", "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": 1.260661, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 114027160, "genomic_position_hg38": 114156438, "chromosome": "11", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:48.163442", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1366+4G>C", "protein_change": null, "transcript_id": "NM_006006.6", "dbsnp_id": "rs1565656100", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1276/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1276/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1276/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1276/gene/?format=api" }, "data": { "type": "Gene", "id": "ZBTB16" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1276/?format=api" } }, { "type": "SmallVariant", "id": "1277", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0023, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.000134, "gnomad_AFR_maf": 0.001639, "gnomad_AMR_maf": 8.694e-05, "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": 0.0001639, "ESP_AA_maf": 0.002514, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.393799, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5798754, "genomic_position_hg38": 5797027, "chromosome": "4", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:48.169597", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1892C>T", "protein_change": "p.Thr631Met", "transcript_id": "NM_153717.3", "dbsnp_id": "rs139481521", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1277/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1277/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1277/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1277/gene/?format=api" }, "data": { "type": "Gene", "id": "EVC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1277/?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": 10 } }