Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SOX10/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2400", "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": 2.426e-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": 4.497e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.779202, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 38370136, "genomic_position_hg38": 37974129, "chromosome": "22", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.039500", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.767C>T", "protein_change": "p.Pro256Leu", "transcript_id": "NM_006941.4", "dbsnp_id": "rs746972348", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1109" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2400/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2400/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2400/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2400/gene/?format=api" }, "data": { "type": "Gene", "id": "SOX10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2400/?format=api" } }, { "type": "SmallVariant", "id": "2667", "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": 4.04e-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": 8.839e-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": "Benign", "cadd_prediction": 2.127108, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38369936, "genomic_position_hg38": 37973929, "chromosome": "22", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.511627", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.967G>A", "protein_change": "p.Ala323Thr", "transcript_id": "NM_006941.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1264" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2667/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2667/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2667/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2667/gene/?format=api" }, "data": { "type": "Gene", "id": "SOX10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2667/?format=api" } }, { "type": "SmallVariant", "id": "2774", "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": 1.716153, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38373978, "genomic_position_hg38": 37977971, "chromosome": "22", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.161783", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.593G>A", "protein_change": "p.Gly198Asp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1323" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2774/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2774/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2774/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2774/gene/?format=api" }, "data": { "type": "Gene", "id": "SOX10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2774/?format=api" } }, { "type": "SmallVariant", "id": "2908", "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": 4.025652, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38370190, "genomic_position_hg38": 37974183, "chromosome": "22", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.958447", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.713C>T", "protein_change": "p.Pro238Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1387" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2908/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2908/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2908/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2908/gene/?format=api" }, "data": { "type": "Gene", "id": "SOX10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2908/?format=api" } }, { "type": "SmallVariant", "id": "2912", "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": 3.333563, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 38369863, "genomic_position_hg38": 37973856, "chromosome": "22", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.982731", "ref_allele": "GGT", "alt_allele": "G", "cdna_change": "c.1038_1039del", "protein_change": "p.Pro347ThrfsTer54", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1388" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2912/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2912/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2912/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2912/gene/?format=api" }, "data": { "type": "Gene", "id": "SOX10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2912/?format=api" } }, { "type": "SmallVariant", "id": "3368", "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": 4.047053, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 38374090, "genomic_position_hg38": 37978083, "chromosome": "22", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.704519", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.481C>T", "protein_change": "p.Arg161Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1596" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3368/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3368/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3368/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3368/gene/?format=api" }, "data": { "type": "Gene", "id": "SOX10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3368/?format=api" } }, { "type": "SmallVariant", "id": "3373", "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": 2.076e-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": 4.621e-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": 2.626591, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 38379601, "genomic_position_hg38": 37983594, "chromosome": "22", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.735662", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.191A>T", "protein_change": "p.Asp64Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1598" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3373/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3373/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3373/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3373/gene/?format=api" }, "data": { "type": "Gene", "id": "SOX10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3373/?format=api" } }, { "type": "SmallVariant", "id": "3375", "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": 5.498218, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38379703, "genomic_position_hg38": 37983696, "chromosome": "22", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.747998", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.89C>A", "protein_change": "p.Ser30Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1599" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3375/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3375/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3375/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3375/gene/?format=api" }, "data": { "type": "Gene", "id": "SOX10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3375/?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": 8 } }