Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/DCC/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1847", "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": "Damaging", "cadd_prediction": 2.911529, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 50278604, "genomic_position_hg38": 52752234, "chromosome": "18", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.671109", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.272A>G", "protein_change": "p.Gln91Arg", "transcript_id": "NM_005215.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI844" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1847/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1847/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1847/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1847/gene/?format=api" }, "data": { "type": "Gene", "id": "DCC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1847/?format=api" } }, { "type": "SmallVariant", "id": "1872", "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": 0.0001473, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001905, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 6.533e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.507118, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 50866178, "genomic_position_hg38": 53339808, "chromosome": "18", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.820335", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2260G>A", "protein_change": "p.Val754Met", "transcript_id": "NM_005215.3", "dbsnp_id": "rs775565634", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI855" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1872/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1872/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1872/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1872/gene/?format=api" }, "data": { "type": "Gene", "id": "DCC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1872/?format=api" } }, { "type": "SmallVariant", "id": "1907", "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": 1.195e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.442e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.802e-06, "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": 4.399495, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 50994324, "genomic_position_hg38": 53467954, "chromosome": "18", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.042265", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.3680G>A", "protein_change": "p.Arg1227His", "transcript_id": "NM_005215.3", "dbsnp_id": "rs762821495", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI873" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1907/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1907/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1907/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1907/gene/?format=api" }, "data": { "type": "Gene", "id": "DCC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1907/?format=api" } }, { "type": "SmallVariant", "id": "1955", "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": 7.956e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "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": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.052592, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 51013272, "genomic_position_hg38": 53486902, "chromosome": "18", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.347556", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3842C>T", "protein_change": "p.Pro1281Leu", "transcript_id": "NM_005215.3", "dbsnp_id": "rs1389933990", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI904" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1955/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1955/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1955/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1955/gene/?format=api" }, "data": { "type": "Gene", "id": "DCC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1955/?format=api" } }, { "type": "SmallVariant", "id": "2884", "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": 1.995e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.000109, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.653e-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": "Benign", "cadd_prediction": 2.344058, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 50432620, "genomic_position_hg38": 52906250, "chromosome": "18", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.813645", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.619A>G", "protein_change": "p.Ile207Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1376" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2884/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2884/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2884/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2884/gene/?format=api" }, "data": { "type": "Gene", "id": "DCC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2884/?format=api" } }, { "type": "SmallVariant", "id": "2949", "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": 2.388e-05, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 9.925e-05, "gnomad_EAS_maf": 5.443e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.641e-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": 4.3247, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 50866185, "genomic_position_hg38": 53339815, "chromosome": "18", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.207025", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2267G>A", "protein_change": "p.Arg756Gln", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1404" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2949/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2949/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2949/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2949/gene/?format=api" }, "data": { "type": "Gene", "id": "DCC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2949/?format=api" } }, { "type": "SmallVariant", "id": "2989", "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": 3.979e-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": 8.799e-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": "Damaging", "cadd_prediction": 3.761367, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 50985679, "genomic_position_hg38": 53459309, "chromosome": "18", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.453504", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.3470A>G", "protein_change": "p.His1157Arg", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1422" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2989/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2989/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2989/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2989/gene/?format=api" }, "data": { "type": "Gene", "id": "DCC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2989/?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": 7 } }