Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/JAG1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "914", "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": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.816689, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 10653413, "genomic_position_hg38": 10672765, "chromosome": "20", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.988233", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.323A>T", "protein_change": "p.Asn108Ile", "transcript_id": "NM_000214.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI427" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/914/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/914/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/914/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/914/gene/?format=api" }, "data": { "type": "Gene", "id": "JAG1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/914/?format=api" } }, { "type": "SmallVariant", "id": "1229", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0072, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0051, "gnomad_maf": 0.001922, "gnomad_AFR_maf": 0.000431, "gnomad_AMR_maf": 0.000983, "gnomad_ASJ_maf": 0.005066, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001849, "gnomad_NFE_maf": 0.002394, "gnomad_OTH_maf": 0.001629, "gnomad_SAS_maf": 0.00343, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.002093 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.570051, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 10622214, "genomic_position_hg38": 10641566, "chromosome": "20", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.892065", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg937Gln", "transcript_id": null, "dbsnp_id": "rs145895196", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI581" }, { "type": "Combination", "id": "OLI588" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1229/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1229/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1229/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1229/gene/?format=api" }, "data": { "type": "Gene", "id": "JAG1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1229/?format=api" } }, { "type": "SmallVariant", "id": "1232", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.974346, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 10621568, "genomic_position_hg38": 10640920, "chromosome": "20", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.904389", "ref_allele": "A", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Ile1021Thr", "transcript_id": null, "dbsnp_id": "rs1736644803", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI582" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1232/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1232/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1232/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1232/gene/?format=api" }, "data": { "type": "Gene", "id": "JAG1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1232/?format=api" } }, { "type": "SmallVariant", "id": "1237", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0009464, "gnomad_AFR_maf": 0.0001845, "gnomad_AMR_maf": 0.001041, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0004158, "gnomad_NFE_maf": 0.001204, "gnomad_OTH_maf": 0.001629, "gnomad_SAS_maf": 0.001404, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.001047 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.489046, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 10625624, "genomic_position_hg38": 10644976, "chromosome": "20", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.934776", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg744Gln", "transcript_id": null, "dbsnp_id": "rs147809756", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI584" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1237/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1237/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1237/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1237/gene/?format=api" }, "data": { "type": "Gene", "id": "JAG1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1237/?format=api" } }, { "type": "SmallVariant", "id": "2354", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.003, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0004137, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002602, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.00473, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.518e-05, "gnomad_OTH_maf": 0.0003258, "gnomad_SAS_maf": 6.533e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.158887, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 10639284, "genomic_position_hg38": 10658636, "chromosome": "20", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.765524", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.526G>A", "protein_change": "p.Val176Ile", "transcript_id": "NM_000214.3", "dbsnp_id": "rs199674138", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1078" }, { "type": "Combination", "id": "OLI1094" }, { "type": "Combination", "id": "OLI1497" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2354/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2354/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2354/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2354/gene/?format=api" }, "data": { "type": "Gene", "id": "JAG1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2354/?format=api" } }, { "type": "SmallVariant", "id": "2355", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.497544, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 10653603, "genomic_position_hg38": 10672955, "chromosome": "20", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.771765", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.133G>C", "protein_change": "p.Val45Leu", "transcript_id": "NM_000214.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1079" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2355/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2355/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2355/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2355/gene/?format=api" }, "data": { "type": "Gene", "id": "JAG1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2355/?format=api" } }, { "type": "SmallVariant", "id": "3147", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.497544, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 10653603, "genomic_position_hg38": 10672955, "chromosome": "20", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.364818", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.133G>T", "protein_change": "p.Val45Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1498" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3147/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3147/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3147/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3147/gene/?format=api" }, "data": { "type": "Gene", "id": "JAG1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3147/?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 } }