Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/GDF9/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "186", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0028, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0101, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.002935, "gnomad_AFR_maf": 0.0008612, "gnomad_AMR_maf": 0.002717, "gnomad_ASJ_maf": 0.0007937, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.003049, "gnomad_NFE_maf": 0.004096, "gnomad_OTH_maf": 0.00342, "gnomad_SAS_maf": 0.002254, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.002674 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.118887, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 132197286, "genomic_position_hg38": 132861594, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.611856", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1360C>T", "protein_change": "p.Arg454Cys", "transcript_id": "NM_005260.5", "dbsnp_id": "rs61754582", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI090" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/186/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/186/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/186/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/186/gene/?format=api" }, "data": { "type": "Gene", "id": "GDF9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/186/?format=api" } }, { "type": "SmallVariant", "id": "195", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002768, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 0.0006071, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.009563, "gnomad_NFE_maf": 0.003912, "gnomad_OTH_maf": 0.002933, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": 0.0006809, "ESP_EA_maf": 0.002907 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.558093, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 132199919, "genomic_position_hg38": 132864227, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.666190", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.307C>T", "protein_change": "p.Pro103Ser", "transcript_id": "NM_005260.5", "dbsnp_id": "rs61754583", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI094" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/195/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/195/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/195/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/195/gene/?format=api" }, "data": { "type": "Gene", "id": "GDF9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/195/?format=api" } }, { "type": "SmallVariant", "id": "2321", "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": 3.697471, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 132199948, "genomic_position_hg38": 132864256, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.559359", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.278A>G", "protein_change": "p.Tyr93Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1060" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2321/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2321/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2321/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2321/gene/?format=api" }, "data": { "type": "Gene", "id": "GDF9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2321/?format=api" } }, { "type": "SmallVariant", "id": "2322", "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": 2.784e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.621e-05, "gnomad_NFE_maf": 5.275e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.10537, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 132197525, "genomic_position_hg38": 132861833, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.565511", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1121C>T", "protein_change": "p.Pro374Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1060" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2322/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2322/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2322/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2322/gene/?format=api" }, "data": { "type": "Gene", "id": "GDF9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2322/?format=api" } }, { "type": "SmallVariant", "id": "3663", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.004, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0002624, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.003588, "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": "Damaging", "cadd_prediction": 3.193825, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 132197363, "genomic_position_hg38": 132861671, "chromosome": "5", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:32.659308", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.1283G>C", "protein_change": "p.Ser428Thr", "transcript_id": "NM_005260.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1724" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3663/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3663/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3663/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3663/gene/?format=api" }, "data": { "type": "Gene", "id": "GDF9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3663/?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 } }