Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/NOS1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "907", "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": 1.336e-05, "gnomad_AFR_maf": 7.173e-05, "gnomad_AMR_maf": 3.387e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001882, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.823957, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 117703242, "genomic_position_hg38": 117265437, "chromosome": "12", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:45.942558", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1007G>A", "protein_change": "p.Arg336His", "transcript_id": "NM_001204213.1", "dbsnp_id": "rs764344401", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI424" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/907/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/907/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/907/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/907/gene/?format=api" }, "data": { "type": "Gene", "id": "NOS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/907/?format=api" } }, { "type": "SmallVariant", "id": "1666", "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": 0.0001524, "gnomad_AFR_maf": 6.46e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.64e-05, "gnomad_NFE_maf": 0.0003004, "gnomad_OTH_maf": 0.0003304, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002418 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.609719, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 117768820, "genomic_position_hg38": 117331015, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.581371", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.55C>T", "protein_change": "p.Arg19Cys", "transcript_id": "NM_000620.4", "dbsnp_id": "rs78402290", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI753" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1666/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1666/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1666/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1666/gene/?format=api" }, "data": { "type": "Gene", "id": "NOS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1666/?format=api" } }, { "type": "SmallVariant", "id": "1866", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "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": 0.0, "gnomad_maf": 0.0001122, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001558, "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": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.39983, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 117696250, "genomic_position_hg38": 117258445, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.794373", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2483G>A", "protein_change": "p.Cys828Tyr", "transcript_id": "NM_000620.4", "dbsnp_id": "rs200144876", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI853" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1866/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1866/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1866/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1866/gene/?format=api" }, "data": { "type": "Gene", "id": "NOS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1866/?format=api" } }, { "type": "SmallVariant", "id": "1925", "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": 1.848558, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 117665401, "genomic_position_hg38": 117227596, "chromosome": "12", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:52.159311", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.3553A>G", "protein_change": "p.Ile1185Val", "transcript_id": "NM_001204218.1", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI884" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1925/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1925/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1925/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1925/gene/?format=api" }, "data": { "type": "Gene", "id": "NOS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1925/?format=api" } }, { "type": "SmallVariant", "id": "1947", "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": 0.0002889, "gnomad_AFR_maf": 0.000323, "gnomad_AMR_maf": 2.904e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.003505, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001655, "gnomad_SAS_maf": 6.541e-05, "ESP_AA_maf": 0.00049, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.695633, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 117701763, "genomic_position_hg38": 117263958, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:52.295702", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2153C>T", "protein_change": "p.Thr718Met", "transcript_id": "NM_000620.4", "dbsnp_id": "rs200091597", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI897" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1947/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1947/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1947/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1947/gene/?format=api" }, "data": { "type": "Gene", "id": "NOS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1947/?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 } }