Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/HSPG2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2224", "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": 5.155468, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 22160419, "genomic_position_hg38": 21833926, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.967841", "ref_allele": "CT", "alt_allele": "C", "cdna_change": "c.10721-2dupA", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1028" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2224/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2224/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2224/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2224/gene/?format=api" }, "data": { "type": "Gene", "id": "HSPG2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2224/?format=api" } }, { "type": "SmallVariant", "id": "2225", "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": 2.543747, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 22222447, "genomic_position_hg38": 21895954, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.974112", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.212G>A", "protein_change": "p.Ser71Asn", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1028" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2225/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2225/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2225/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2225/gene/?format=api" }, "data": { "type": "Gene", "id": "HSPG2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2225/?format=api" } }, { "type": "SmallVariant", "id": "3527", "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": 8.852e-05, "gnomad_AFR_maf": 0.00025, "gnomad_AMR_maf": 2.905e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0002188, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001069, "gnomad_OTH_maf": 0.0001646, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.020179, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 22207028, "genomic_position_hg38": 21880535, "chromosome": "1", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:28.398063", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2023C>T", "protein_change": "p.Arg675Trp", "transcript_id": "NM_005529.7", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1676" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3527/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3527/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3527/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3527/gene/?format=api" }, "data": { "type": "Gene", "id": "HSPG2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3527/?format=api" } }, { "type": "SmallVariant", "id": "3535", "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": 4.081e-05, "gnomad_AFR_maf": 0.0002592, "gnomad_AMR_maf": 8.761e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.818e-05, "gnomad_OTH_maf": 0.0001674, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.787477, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 22165384, "genomic_position_hg38": 21838891, "chromosome": "1", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:28.634140", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.10084C>T", "protein_change": "p.Arg3362Cys", "transcript_id": "NM_005529.7", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1679" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3535/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3535/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3535/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3535/gene/?format=api" }, "data": { "type": "Gene", "id": "HSPG2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3535/?format=api" } }, { "type": "SmallVariant", "id": "3553", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0002707, "gnomad_AFR_maf": 6.277e-05, "gnomad_AMR_maf": 0.0002324, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0004751, "gnomad_OTH_maf": 0.0006633, "gnomad_SAS_maf": 3.273e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.575033, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 22167631, "genomic_position_hg38": 21841138, "chromosome": "1", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:29.120308", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.9476G>A", "protein_change": "p.Arg3159Gln", "transcript_id": "NM_005529.7", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1683" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3553/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3553/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3553/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3553/gene/?format=api" }, "data": { "type": "Gene", "id": "HSPG2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3553/?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": 5 } }