Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SHH/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "876", "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": 3.967623, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 155595943, "genomic_position_hg38": 155803249, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.750173", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1040C>A", "protein_change": "p.Pro347Gln", "transcript_id": "NM_000193.3", "dbsnp_id": "rs886042458", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI407" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/876/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/876/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/876/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/876/gene/?format=api" }, "data": { "type": "Gene", "id": "SHH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/876/?format=api" } }, { "type": "SmallVariant", "id": "1461", "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": 4.174468, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 155599041, "genomic_position_hg38": 155806347, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.300228", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.511G>C", "protein_change": "p.Asp171His", "transcript_id": "NM_000193.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI678" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1461/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1461/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1461/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1461/gene/?format=api" }, "data": { "type": "Gene", "id": "SHH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1461/?format=api" } }, { "type": "SmallVariant", "id": "1475", "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": "Possibly Damaging", "cadd_prediction": 3.475774, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 155596262, "genomic_position_hg38": 155803568, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.390039", "ref_allele": "A", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Phe241Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI683" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1475/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1475/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1475/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1475/gene/?format=api" }, "data": { "type": "Gene", "id": "SHH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1475/?format=api" } }, { "type": "SmallVariant", "id": "1484", "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": 3.938374, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 155595943, "genomic_position_hg38": 155803249, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.446805", "ref_allele": "G", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Pro347Arg", "transcript_id": null, "dbsnp_id": "rs886042458", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI686" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1484/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1484/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1484/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1484/gene/?format=api" }, "data": { "type": "Gene", "id": "SHH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1484/?format=api" } }, { "type": "SmallVariant", "id": "1514", "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": 4.373e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 8.796e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 6.643e-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": "Possibly Damaging", "cadd_prediction": 3.895696, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 155596307, "genomic_position_hg38": 155803613, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.623010", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.676G>A", "protein_change": "p.Ala226Thr", "transcript_id": "NM_000193.3", "dbsnp_id": "rs104894043", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI697" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1514/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1514/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1514/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1514/gene/?format=api" }, "data": { "type": "Gene", "id": "SHH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1514/?format=api" } }, { "type": "SmallVariant", "id": "2366", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0056, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0258, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.003309, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 4.152e-05, "gnomad_ASJ_maf": 0.003565, "gnomad_EAS_maf": 0.03078, "gnomad_FIN_maf": 0.006716, "gnomad_NFE_maf": 0.0001722, "gnomad_OTH_maf": 0.001812, "gnomad_SAS_maf": 0.001105, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.534282, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 155596114, "genomic_position_hg38": 155803420, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.840631", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.869G>A", "protein_change": "p.Gly290Asp", "transcript_id": "NM_000193.4", "dbsnp_id": "rs104894047", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI1085" }, { "type": "Combination", "id": "OLI1086" }, { "type": "Combination", "id": "OLI1487" }, { "type": "Combination", "id": "OLI1503" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2366/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2366/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2366/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2366/gene/?format=api" }, "data": { "type": "Gene", "id": "SHH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2366/?format=api" } }, { "type": "SmallVariant", "id": "3130", "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": 2.196693, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 155596358, "genomic_position_hg38": 155803664, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.259645", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.625C>G", "protein_change": "p.Gln209Glu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1486" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3130/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3130/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3130/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3130/gene/?format=api" }, "data": { "type": "Gene", "id": "SHH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3130/?format=api" } }, { "type": "SmallVariant", "id": "3231", "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": "Damaging", "cadd_prediction": 3.179604, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 155595616, "genomic_position_hg38": 155802922, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.868682", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.1367G>C", "protein_change": "p.Gly456Ala", "transcript_id": "NM_000193", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1538" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3231/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3231/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3231/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3231/gene/?format=api" }, "data": { "type": "Gene", "id": "SHH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3231/?format=api" } }, { "type": "SmallVariant", "id": "3262", "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": 0.663876, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 155592818, "genomic_position_hg38": 155800124, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.057362", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.423C>A", "protein_change": "p.Cys141Ter", "transcript_id": "NM_001310462", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1552" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3262/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3262/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3262/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3262/gene/?format=api" }, "data": { "type": "Gene", "id": "SHH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3262/?format=api" } }, { "type": "SmallVariant", "id": "3329", "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": 3.976e-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": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.156892, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 155604540, "genomic_position_hg38": 155811846, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.466094", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.277G>A", "protein_change": "p.Gly93Arg", "transcript_id": "NM_000193", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1578" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3329/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3329/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3329/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3329/gene/?format=api" }, "data": { "type": "Gene", "id": "SHH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3329/?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 } }