Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI335/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "638", "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": 4.619e-05, "gnomad_NFE_maf": 1.758e-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": "Possibly Damaging", "cadd_prediction": 3.0021, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33039600, "genomic_position_hg38": 31667287, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.253400", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Ala90Val", "transcript_id": null, "dbsnp_id": "rs1280042397", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 8 }, "data": [ { "type": "Combination", "id": "OLI328" }, { "type": "Combination", "id": "OLI329" }, { "type": "Combination", "id": "OLI330" }, { "type": "Combination", "id": "OLI331" }, { "type": "Combination", "id": "OLI332" }, { "type": "Combination", "id": "OLI333" }, { "type": "Combination", "id": "OLI334" }, { "type": "Combination", "id": "OLI335" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/638/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/638/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/638/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/638/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/638/?format=api" } }, { "type": "SmallVariant", "id": "693", "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": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001432, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 8.674e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01146, "gnomad_NFE_maf": 0.0007296, "gnomad_OTH_maf": 0.001304, "gnomad_SAS_maf": 0.0005879, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.000814 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.508335, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33039603, "genomic_position_hg38": 31667290, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.616879", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.272A>C", "protein_change": "p.Asp91Ala", "transcript_id": "NM_000454.4", "dbsnp_id": "rs80265967", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 9 }, "data": [ { "type": "Combination", "id": "OLI335" }, { "type": "Combination", "id": "OLI777" }, { "type": "Combination", "id": "OLI964" }, { "type": "Combination", "id": "OLI965" }, { "type": "Combination", "id": "OLI966" }, { "type": "Combination", "id": "OLI967" }, { "type": "Combination", "id": "OLI968" }, { "type": "Combination", "id": "OLI969" }, { "type": "Combination", "id": "OLI970" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/693/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/693/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/693/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/693/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/693/?format=api" } }, { "type": "SmallVariant", "id": "694", "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": 0.0003373, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.003389, "gnomad_NFE_maf": 7.088e-05, "gnomad_OTH_maf": 0.0004964, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.545987, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 64956089, "genomic_position_hg38": 65188618, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.623313", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1037C>T", "protein_change": "p.Thr346Ile", "transcript_id": "NM_001198868.1", "dbsnp_id": "rs192790363", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI335" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/694/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/694/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/694/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/694/gene/?format=api" }, "data": { "type": "Gene", "id": "CAPN1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/694/?format=api" } }, { "type": "SmallVariant", "id": "695", "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": 0.647039, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 50824581, "genomic_position_hg38": 49616535, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.629830", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.74C>G", "protein_change": "p.Thr25Arg", "transcript_id": "NM_020549.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI335" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/695/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/695/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/695/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/695/gene/?format=api" }, "data": { "type": "Gene", "id": "CHAT" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/695/?format=api" } }, { "type": "SmallVariant", "id": "696", "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": 8.019e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.896e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.835e-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": "Possibly Damaging", "cadd_prediction": 3.84111, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 88454491, "genomic_position_hg38": 87988147, "chromosome": "14", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.636243", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.256A>G", "protein_change": "p.Thr86Ala", "transcript_id": "NM_001201401.2", "dbsnp_id": "rs1472984936", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI335" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/696/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/696/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/696/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/696/gene/?format=api" }, "data": { "type": "Gene", "id": "GALC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/696/?format=api" } }, { "type": "SmallVariant", "id": "697", "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": 0.0001195, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001247, "gnomad_NFE_maf": 8.83e-06, "gnomad_OTH_maf": 0.000163, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.634561, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 10425480, "genomic_position_hg38": 10365422, "chromosome": "1", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.642569", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4388G>A", "protein_change": "p.Arg1463His", "transcript_id": "NM_015074.3", "dbsnp_id": "rs201477179", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI335" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/697/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/697/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/697/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/697/gene/?format=api" }, "data": { "type": "Gene", "id": "KIF1B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/697/?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 } }