Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/GLI3/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "726", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0042, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0149, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003909, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 8.678e-05, "gnomad_ASJ_maf": 0.0006951, "gnomad_EAS_maf": 0.01544, "gnomad_FIN_maf": 0.02306, "gnomad_NFE_maf": 0.001321, "gnomad_OTH_maf": 0.003914, "gnomad_SAS_maf": 0.0004573, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0006977 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.964348, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42079622, "genomic_position_hg38": 42040023, "chromosome": "7", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.827963", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1028+15G>A", "protein_change": null, "transcript_id": "NM_000168.6", "dbsnp_id": "rs116842918", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI344" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/726/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/726/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/726/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/726/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/726/?format=api" } }, { "type": "SmallVariant", "id": "731", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 6.89e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0009245, "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": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.621374, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42012196, "genomic_position_hg38": 41972597, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.859857", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.1843A>T", "protein_change": "p.Thr615Ser", "transcript_id": "NM_000168.5", "dbsnp_id": "rs200913720", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI346" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/731/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/731/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/731/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/731/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/731/?format=api" } }, { "type": "SmallVariant", "id": "732", "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": 1.194e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001631, "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": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.705442, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42088095, "genomic_position_hg38": 42048496, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.866256", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.674C>T", "protein_change": "p.Thr225Ile", "transcript_id": "NM_000168.5", "dbsnp_id": "rs753769482", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI346" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/732/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/732/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/732/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/732/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/732/?format=api" } }, { "type": "SmallVariant", "id": "741", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0024, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0109, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001014, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0002287, "gnomad_EAS_maf": 0.01248, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.191e-05, "gnomad_OTH_maf": 0.0001983, "gnomad_SAS_maf": 3.618e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.338924, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42005656, "genomic_position_hg38": 41966058, "chromosome": "7", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.924354", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.3015C>T", "protein_change": "p.Ala1005=", "transcript_id": "NM_000168.5", "dbsnp_id": "rs200965852", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI348" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/741/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/741/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/741/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/741/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/741/?format=api" } }, { "type": "SmallVariant", "id": "900", "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": 0.001, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.002419, "gnomad_AFR_maf": 0.0007639, "gnomad_AMR_maf": 0.0004372, "gnomad_ASJ_maf": 0.003931, "gnomad_EAS_maf": 5.461e-05, "gnomad_FIN_maf": 0.0007959, "gnomad_NFE_maf": 0.00444, "gnomad_OTH_maf": 0.003294, "gnomad_SAS_maf": 6.632e-05, "ESP_AA_maf": 0.001589, "ESP_EA_maf": 0.004186 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.001365, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42187851, "genomic_position_hg38": 42148252, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.903582", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.341G>A", "protein_change": "p.Arg114Lys", "transcript_id": "NM_000168.5", "dbsnp_id": "rs146458902", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI420" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/900/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/900/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/900/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/900/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/900/?format=api" } }, { "type": "SmallVariant", "id": "916", "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": 1.195e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.789e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.806e-06, "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": 3.934249, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42187947, "genomic_position_hg38": 42148348, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.001262", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.245G>A", "protein_change": "p.Arg82Lys", "transcript_id": "NM_000168.5", "dbsnp_id": "rs754143860", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI428" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/916/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/916/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/916/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/916/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/916/?format=api" } }, { "type": "SmallVariant", "id": "1300", "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": 1.998e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.898e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.000109, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.768e-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": -0.863461, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42066017, "genomic_position_hg38": 42026418, "chromosome": "7", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:48.313856", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1029-6G>A", "protein_change": null, "transcript_id": "NM_000168.5", "dbsnp_id": "rs748670269", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI602" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1300/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1300/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1300/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1300/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1300/?format=api" } }, { "type": "SmallVariant", "id": "2769", "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": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 1.194e-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": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.867187, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42012085, "genomic_position_hg38": 41972486, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.131542", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1954C>A", "protein_change": "p.Pro652Thr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1321" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2769/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2769/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2769/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2769/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2769/?format=api" } }, { "type": "SmallVariant", "id": "2834", "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": 3.570542, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 42012109, "genomic_position_hg38": 41972510, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.522280", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1930G>A", "protein_change": "p.Gly644Arg", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1343" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2834/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2834/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2834/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2834/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2834/?format=api" } }, { "type": "SmallVariant", "id": "2847", "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": 2.792e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001088, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.417e-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": "Benign", "cadd_prediction": 2.447382, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42005385, "genomic_position_hg38": 41965787, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.603635", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3286G>A", "protein_change": "p.Val1096Met", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1350" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2847/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2847/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2847/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2847/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2847/?format=api" } }, { "type": "SmallVariant", "id": "2889", "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": 3.422338, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 42065878, "genomic_position_hg38": 42026279, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.843874", "ref_allele": "GA", "alt_allele": "G", "cdna_change": "c.1161del", "protein_change": "p.Pro388GlnfsTer13", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1379" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2889/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2889/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2889/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2889/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2889/?format=api" } }, { "type": "SmallVariant", "id": "2963", "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": 2.510275, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42064934, "genomic_position_hg38": 42025335, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.292313", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1285C>G", "protein_change": "p.Pro429Ala", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1409" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2963/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2963/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2963/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2963/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2963/?format=api" } }, { "type": "SmallVariant", "id": "3180", "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": 2.25553, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42018318, "genomic_position_hg38": 41978719, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.559872", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.1527G>C", "protein_change": "p.Glu509Asp", "transcript_id": "NM_000168", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1516" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3180/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3180/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3180/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3180/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3180/?format=api" } }, { "type": "SmallVariant", "id": "3214", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0003313, "gnomad_AFR_maf": 6.176e-05, "gnomad_AMR_maf": 0.001128, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.621e-05, "gnomad_NFE_maf": 0.0003365, "gnomad_OTH_maf": 0.0006527, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.942211, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42004736, "genomic_position_hg38": 41965138, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.762565", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.3935T>G", "protein_change": "p.Met1312Arg", "transcript_id": "NM_000168", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1530" }, { "type": "Combination", "id": "OLI1571" }, { "type": "Combination", "id": "OLI1574" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3214/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3214/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3214/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3214/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3214/?format=api" } }, { "type": "SmallVariant", "id": "3230", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003929, "gnomad_AFR_maf": 0.0004306, "gnomad_AMR_maf": 0.002746, "gnomad_ASJ_maf": 0.007639, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.002448, "gnomad_NFE_maf": 0.006056, "gnomad_OTH_maf": 0.005051, "gnomad_SAS_maf": 0.001143, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.869454, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42063171, "genomic_position_hg38": 42023572, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.862577", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.1393G>C", "protein_change": "p.Gly465Arg", "transcript_id": "NM_000168", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1537" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3230/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3230/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3230/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3230/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3230/?format=api" } }, { "type": "SmallVariant", "id": "3324", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0026, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.007, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.005269, "gnomad_AFR_maf": 0.0006152, "gnomad_AMR_maf": 0.001474, "gnomad_ASJ_maf": 0.003075, "gnomad_EAS_maf": 0.0001087, "gnomad_FIN_maf": 0.007622, "gnomad_NFE_maf": 0.007551, "gnomad_OTH_maf": 0.005212, "gnomad_SAS_maf": 0.005716, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.932292, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 42007446, "genomic_position_hg38": 41967848, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.435144", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2179G>A", "protein_change": "p.Gly727Arg", "transcript_id": "NM_000168", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1576" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3324/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3324/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3324/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3324/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3324/?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": 16 } }