Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SCRIB/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1074", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 4.054e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0002885, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0001365, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.671799, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 144885908, "genomic_position_hg38": 143803738, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.968978", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3323G>A", "protein_change": "p.Gly1108Glu", "transcript_id": "NM_182706.4", "dbsnp_id": "rs529610993", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI505" }, { "type": "Combination", "id": "OLI509" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1074/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1074/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1074/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1074/gene/?format=api" }, "data": { "type": "Gene", "id": "SCRIB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1074/?format=api" } }, { "type": "SmallVariant", "id": "1076", "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": 3.182335, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 144891041, "genomic_position_hg38": 143808871, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.981558", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1853A>G", "protein_change": "p.Lys618Arg", "transcript_id": "NM_015356.4", "dbsnp_id": "rs1815565050", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI506" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1076/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1076/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1076/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1076/gene/?format=api" }, "data": { "type": "Gene", "id": "SCRIB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1076/?format=api" } }, { "type": "SmallVariant", "id": "1078", "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": 0.0001125, "gnomad_AFR_maf": 7.974e-05, "gnomad_AMR_maf": 0.0002452, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0008951, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.114e-05, "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": 3.055677, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 144886100, "genomic_position_hg38": 143803930, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.993982", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3131G>A", "protein_change": "p.Arg1044Gln", "transcript_id": "NM_015356.4", "dbsnp_id": "rs782787420", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI507" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1078/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1078/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1078/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1078/gene/?format=api" }, "data": { "type": "Gene", "id": "SCRIB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1078/?format=api" } }, { "type": "SmallVariant", "id": "1082", "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": 0.0001265, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.83e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001529, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001667, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.256794, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 144890963, "genomic_position_hg38": 143808793, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.019093", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1931G>T", "protein_change": "p.Gly644Val", "transcript_id": "NM_015356.4", "dbsnp_id": "rs201104891", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI510" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1082/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1082/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1082/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1082/gene/?format=api" }, "data": { "type": "Gene", "id": "SCRIB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1082/?format=api" } }, { "type": "SmallVariant", "id": "1535", "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": 0.0005504, "gnomad_AFR_maf": 0.0001096, "gnomad_AMR_maf": 0.0002488, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0003185, "gnomad_NFE_maf": 0.001114, "gnomad_OTH_maf": 0.0003307, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0002306, "ESP_EA_maf": 0.0009461 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.637788, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 144873405, "genomic_position_hg38": 143791235, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.752777", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.4896A>T", "protein_change": "p.Glu1632Asp", "transcript_id": "NM_182706.4", "dbsnp_id": "rs200643687", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI703" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1535/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1535/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1535/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1535/gene/?format=api" }, "data": { "type": "Gene", "id": "SCRIB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1535/?format=api" } }, { "type": "SmallVariant", "id": "1588", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0045, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001563, "gnomad_AFR_maf": 0.002178, "gnomad_AMR_maf": 0.0002084, "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": 4.555e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.886712, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 144887428, "genomic_position_hg38": 143805258, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.085610", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2524G>A", "protein_change": "p.Gly842Arg", "transcript_id": "NM_015356.4", "dbsnp_id": "rs571102571", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI722" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1588/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1588/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1588/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1588/gene/?format=api" }, "data": { "type": "Gene", "id": "SCRIB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1588/?format=api" } }, { "type": "SmallVariant", "id": "1592", "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": 1.313e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0001258, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.599e-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": 3.034496, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 144887545, "genomic_position_hg38": 143805375, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.110743", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2407G>A", "protein_change": "p.Ala803Thr", "transcript_id": "NM_015356.4", "dbsnp_id": "rs900125584", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI723" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1592/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1592/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1592/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1592/gene/?format=api" }, "data": { "type": "Gene", "id": "SCRIB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1592/?format=api" } }, { "type": "SmallVariant", "id": "1616", "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": 0.980308, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 144890990, "genomic_position_hg38": 143808820, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.260974", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1904A>G", "protein_change": "p.Asp635Gly", "transcript_id": "NM_015356.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI730" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1616/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1616/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1616/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1616/gene/?format=api" }, "data": { "type": "Gene", "id": "SCRIB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1616/?format=api" } }, { "type": "SmallVariant", "id": "1682", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0004463, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001079, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001211, "gnomad_NFE_maf": 0.0007285, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0001099, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0005928 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.956656, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 144875184, "genomic_position_hg38": 143793014, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.681710", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3979G>A", "protein_change": "p.Val1327Met", "transcript_id": "NM_015356.4", "dbsnp_id": "rs201563528", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI758" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1682/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1682/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1682/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1682/gene/?format=api" }, "data": { "type": "Gene", "id": "SCRIB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1682/?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": 9 } }