Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/CNGA3/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "88", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.003267, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 98986401, "genomic_position_hg38": 98369938, "chromosome": "2", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:41.042627", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.-37-1G>C", "protein_change": null, "transcript_id": "NM_001298.2", "dbsnp_id": "rs1553447991", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI042" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/88/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/88/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/88/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/88/gene/?format=api" }, "data": { "type": "Gene", "id": "CNGA3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/88/?format=api" } }, { "type": "SmallVariant", "id": "89", "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": 0.0001551, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.000299, "gnomad_OTH_maf": 0.0001631, "gnomad_SAS_maf": 9.8e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.851178, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 99012502, "genomic_position_hg38": 98396039, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.048720", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.869G>A", "protein_change": "p.Arg290His", "transcript_id": "NM_001298.2", "dbsnp_id": "rs199837807", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI043" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/89/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/89/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/89/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/89/gene/?format=api" }, "data": { "type": "Gene", "id": "CNGA3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/89/?format=api" } }, { "type": "SmallVariant", "id": "90", "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": 1.194e-05, "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": 1.761e-05, "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": "Benign", "cadd_prediction": 3.182379, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 99013410, "genomic_position_hg38": 98396947, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.054941", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1777G>A", "protein_change": "p.Glu593Lys", "transcript_id": "NM_001298.2", "dbsnp_id": "rs774676415", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI044" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/90/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/90/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/90/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/90/gene/?format=api" }, "data": { "type": "Gene", "id": "CNGA3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/90/?format=api" } }, { "type": "SmallVariant", "id": "91", "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": 9.548e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.785e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.444e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001407, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0001633, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.322633, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 99012462, "genomic_position_hg38": 98395999, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.061172", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.829C>T", "protein_change": "p.Arg277Cys", "transcript_id": "NM_001298.2", "dbsnp_id": "rs104893620", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI045" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/91/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/91/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/91/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/91/gene/?format=api" }, "data": { "type": "Gene", "id": "CNGA3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/91/?format=api" } }, { "type": "SmallVariant", "id": "93", "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": "Benign", "cadd_prediction": 2.905125, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 99012850, "genomic_position_hg38": 98396387, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.073539", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1217T>C", "protein_change": "p.Met406Thr", "transcript_id": "NM_001298.2", "dbsnp_id": "rs1553450734", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI046" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/93/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/93/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/93/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/93/gene/?format=api" }, "data": { "type": "Gene", "id": "CNGA3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/93/?format=api" } }, { "type": "SmallVariant", "id": "94", "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": 7.565e-05, "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": 0.0001671, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003488 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.811834, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 99008427, "genomic_position_hg38": 98391964, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.079848", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.667C>T", "protein_change": "p.Arg223Trp", "transcript_id": "NM_001298.2", "dbsnp_id": "rs138958917", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI047" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/94/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/94/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/94/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/94/gene/?format=api" }, "data": { "type": "Gene", "id": "CNGA3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/94/?format=api" } }, { "type": "SmallVariant", "id": "96", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 7.56677, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 99012953, "genomic_position_hg38": 98396490, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.092263", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1320G>A", "protein_change": "p.Trp440Ter", "transcript_id": "NM_001298.2", "dbsnp_id": "rs1553450764", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI048" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/96/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/96/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/96/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/96/gene/?format=api" }, "data": { "type": "Gene", "id": "CNGA3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/96/?format=api" } }, { "type": "SmallVariant", "id": "97", "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": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 9.574e-05, "gnomad_AFR_maf": 0.0001239, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0003987, "gnomad_EAS_maf": 0.0001088, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.417e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0003595, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.1592, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 99012939, "genomic_position_hg38": 98396476, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.098504", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1306C>T", "protein_change": "p.Arg436Trp", "transcript_id": "NM_001298.2", "dbsnp_id": "rs104893621", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI049" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/97/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/97/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/97/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/97/gene/?format=api" }, "data": { "type": "Gene", "id": "CNGA3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/97/?format=api" } }, { "type": "SmallVariant", "id": "99", "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": 0.0003953, "gnomad_AFR_maf": 0.0001239, "gnomad_AMR_maf": 0.0001158, "gnomad_ASJ_maf": 9.974e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0003893, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.001569, "ESP_AA_maf": 0.0006809, "ESP_EA_maf": 0.001047 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.241374, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 99012912, "genomic_position_hg38": 98396449, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.111020", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1279C>T", "protein_change": "p.Arg427Cys", "transcript_id": "NM_001298.2", "dbsnp_id": "rs141386891", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI050" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/99/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/99/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/99/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/99/gene/?format=api" }, "data": { "type": "Gene", "id": "CNGA3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/99/?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 } }