Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/ARHGEF28/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "639", "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": 6.82e-05, "gnomad_AFR_maf": 6.457e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0006961, "gnomad_NFE_maf": 8.849e-06, "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": 2.402013, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73072424, "genomic_position_hg38": 73776599, "chromosome": "5", "annotation_flag": "manually_attributed", "lastmodified": "2023-12-19T09:05:57.196745", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.743C>G", "protein_change": "p.Thr248Arg", "transcript_id": "NM_001177693.1", "dbsnp_id": "rs375000790", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI328" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/639/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/639/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/639/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/639/gene/?format=api" }, "data": { "type": "Gene", "id": "ARHGEF28" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/639/?format=api" } }, { "type": "SmallVariant", "id": "3415", "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": 2.16025, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73153912, "genomic_position_hg38": 73858087, "chromosome": "5", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:24.586233", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1915A>G", "protein_change": "p.Thr639Ala", "transcript_id": "NM_001080479.2", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1619" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3415/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3415/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3415/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3415/gene/?format=api" }, "data": { "type": "Gene", "id": "ARHGEF28" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3415/?format=api" } }, { "type": "SmallVariant", "id": "3417", "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": 4.045e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.586e-05, "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.400848, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73153966, "genomic_position_hg38": 73858141, "chromosome": "5", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:24.656649", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1969C>T", "protein_change": "p.Pro657Ser", "transcript_id": "NM_001080479.2", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1620" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3417/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3417/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3417/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3417/gene/?format=api" }, "data": { "type": "Gene", "id": "ARHGEF28" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3417/?format=api" } }, { "type": "SmallVariant", "id": "3429", "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": "Possibly Damaging", "cadd_prediction": 2.631155, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73205720, "genomic_position_hg38": 73909895, "chromosome": "5", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:25.260916", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4645G>A", "protein_change": "p.Glu1549Lys", "transcript_id": "NM_001080479.2", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1629" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3429/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3429/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3429/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3429/gene/?format=api" }, "data": { "type": "Gene", "id": "ARHGEF28" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3429/?format=api" } }, { "type": "SmallVariant", "id": "3437", "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": 4.026e-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": 8.894e-06, "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": 7.557651, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73136338, "genomic_position_hg38": 73840513, "chromosome": "5", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:25.586652", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1180G>T", "protein_change": "p.Glu394Ter", "transcript_id": "NM_001080479.2", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1634" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3437/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3437/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3437/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3437/gene/?format=api" }, "data": { "type": "Gene", "id": "ARHGEF28" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3437/?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 } }