Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/VLDLR/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2328", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.002208, "gnomad_AFR_maf": 0.0003076, "gnomad_AMR_maf": 0.0005204, "gnomad_ASJ_maf": 0.002878, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.004712, "gnomad_NFE_maf": 0.002647, "gnomad_OTH_maf": 0.003258, "gnomad_SAS_maf": 0.002613, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.001279 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.830672, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2643709, "genomic_position_hg38": 2643709, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.602918", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.902G>A", "protein_change": "p.Arg301Gln", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1063" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2328/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2328/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2328/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2328/gene/?format=api" }, "data": { "type": "Gene", "id": "VLDLR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2328/?format=api" } }, { "type": "SmallVariant", "id": "3066", "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": 0.0002308, "gnomad_AFR_maf": 0.0001231, "gnomad_AMR_maf": 0.0001735, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0004135, "gnomad_OTH_maf": 0.0004896, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.457926, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2644799, "genomic_position_hg38": 2644799, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.896065", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1132T>C", "protein_change": "p.Tyr378His", "transcript_id": "NM_003383", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1461" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3066/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3066/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3066/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3066/gene/?format=api" }, "data": { "type": "Gene", "id": "VLDLR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3066/?format=api" } }, { "type": "SmallVariant", "id": "3067", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0007686, "gnomad_AFR_maf": 0.0001231, "gnomad_AMR_maf": 0.0002313, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 4.619e-05, "gnomad_NFE_maf": 0.001543, "gnomad_OTH_maf": 0.0008157, "gnomad_SAS_maf": 3.267e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.473805, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2648286, "genomic_position_hg38": 2648286, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.902131", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1901G>A", "protein_change": "p.Arg634His", "transcript_id": "NM_003383", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1461" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3067/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3067/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3067/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3067/gene/?format=api" }, "data": { "type": "Gene", "id": "VLDLR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3067/?format=api" } }, { "type": "SmallVariant", "id": "3081", "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": 1.193e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.239e-05, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.233419, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2648673, "genomic_position_hg38": 2648673, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.981490", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1967G>A", "protein_change": "p.Arg656His", "transcript_id": "NM_003383", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1466" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3081/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3081/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3081/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3081/gene/?format=api" }, "data": { "type": "Gene", "id": "VLDLR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3081/?format=api" } }, { "type": "SmallVariant", "id": "3082", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0086, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.000422, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.003035, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001632, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.675237, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2645574, "genomic_position_hg38": 2645574, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.987401", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1313G>A", "protein_change": "p.Gly438Asp", "transcript_id": "NM_003383", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1466" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3082/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3082/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3082/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3082/gene/?format=api" }, "data": { "type": "Gene", "id": "VLDLR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3082/?format=api" } }, { "type": "SmallVariant", "id": "3083", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0024, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0092, "gnomad_maf": 0.001968, "gnomad_AFR_maf": 0.0004306, "gnomad_AMR_maf": 0.001099, "gnomad_ASJ_maf": 0.001985, "gnomad_EAS_maf": 0.0001087, "gnomad_FIN_maf": 4.619e-05, "gnomad_NFE_maf": 0.001749, "gnomad_OTH_maf": 0.00228, "gnomad_SAS_maf": 0.00699, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.512109, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2639898, "genomic_position_hg38": 2639898, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.993333", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.242A>G", "protein_change": "p.Asn81Ser", "transcript_id": "NM_003383", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1466" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3083/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3083/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3083/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3083/gene/?format=api" }, "data": { "type": "Gene", "id": "VLDLR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3083/?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": 6 } }