Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/GRN/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1440", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 3.187e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.786e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001088, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0001307, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.375981, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42427072, "genomic_position_hg38": 44349704, "chromosome": "17", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.158827", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.302G>A", "protein_change": "p.Arg101Gln", "transcript_id": "NM_002087.3", "dbsnp_id": "rs201686997", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI665" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1440/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1440/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1440/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1440/gene/?format=api" }, "data": { "type": "Gene", "id": "GRN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1440/?format=api" } }, { "type": "SmallVariant", "id": "1815", "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": 3.698558, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 42428987, "genomic_position_hg38": 44351619, "chromosome": "17", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.463101", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1003T>C", "protein_change": "p.Cys335Arg", "transcript_id": "NM_002087.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI828" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1815/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1815/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1815/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1815/gene/?format=api" }, "data": { "type": "Gene", "id": "GRN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1815/?format=api" } }, { "type": "SmallVariant", "id": "2045", "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": 3.74567, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42428447, "genomic_position_hg38": 44351079, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.894451", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.751A>T", "protein_change": "p.Thr251Ser", "transcript_id": "NM_002087", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI946" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2045/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2045/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2045/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2045/gene/?format=api" }, "data": { "type": "Gene", "id": "GRN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2045/?format=api" } }, { "type": "SmallVariant", "id": "2087", "attributes": { "frequencies": { "KGP_genomes_maf": 0.4245, "KGP_genomes_AFR_maf": 0.7345, "KGP_genomes_AMR_maf": 0.2421, "KGP_genomes_EAS_maf": 0.38, "KGP_genomes_EUR_maf": 0.3012, "KGP_genomes_SAS_maf": 0.3078, "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": 0.421735, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42430244, "genomic_position_hg38": 44352876, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.131716", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.*78C>T", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 5 }, "data": [ { "type": "Combination", "id": "OLI965" }, { "type": "Combination", "id": "OLI966" }, { "type": "Combination", "id": "OLI967" }, { "type": "Combination", "id": "OLI968" }, { "type": "Combination", "id": "OLI969" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2087/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2087/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2087/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2087/gene/?format=api" }, "data": { "type": "Gene", "id": "GRN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2087/?format=api" } }, { "type": "SmallVariant", "id": "3422", "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": 4.96135, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 42429709, "genomic_position_hg38": 44352341, "chromosome": "17", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:24.973890", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1414G>C", "protein_change": "p.Ala472Pro", "transcript_id": "NM_002087.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1625" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3422/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3422/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3422/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3422/gene/?format=api" }, "data": { "type": "Gene", "id": "GRN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3422/?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 } }