Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SOD1/variants/?format=api
https://olida.ibsquare.be/api/variants/1693/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1693/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1693/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1693/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1693/?format=api" } }, { "type": "SmallVariant", "id": "525", "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": 3.593e-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": 7.957e-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": "Benign", "cadd_prediction": 3.676688, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33032096, "genomic_position_hg38": 31659783, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.619204", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Ala5Val", "transcript_id": null, "dbsnp_id": "rs121912442", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI269" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/525/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/525/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/525/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/525/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/525/?format=api" } }, { "type": "SmallVariant", "id": "527", "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": "Damaging", "cadd_prediction": 3.803894, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33038791, "genomic_position_hg38": 31666478, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.630650", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.199C>G", "protein_change": "p.Pro67Ala", "transcript_id": "NM_000454.4", "dbsnp_id": "rs1356474292", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI270" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/527/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/527/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/527/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/527/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/527/?format=api" } }, { "type": "SmallVariant", "id": "541", "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": "Possibly Damaging", "cadd_prediction": 3.349193, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33036142, "genomic_position_hg38": 31663829, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.699664", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.112G>A", "protein_change": "p.Gly38Arg", "transcript_id": "NM_000454.4", "dbsnp_id": "rs121912431", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI280" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/541/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/541/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/541/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/541/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/541/?format=api" } }, { "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": "936", "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": 2.129771, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33039666, "genomic_position_hg38": 31667353, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.131444", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.335G>A", "protein_change": "p.Cys112Tyr", "transcript_id": "NM_000454.4", "dbsnp_id": "rs1601158483", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI439" }, { "type": "Combination", "id": "OLI941" }, { "type": "Combination", "id": "OLI942" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/936/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/936/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/936/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/936/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/936/?format=api" } }, { "type": "SmallVariant", "id": "937", "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": "Damaging", "cadd_prediction": 4.099497, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33040850, "genomic_position_hg38": 31668537, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.137895", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.424G>A", "protein_change": "p.Gly142Arg", "transcript_id": "NM_000454.4", "dbsnp_id": "rs1319062081", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI440" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/937/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/937/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/937/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/937/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/937/?format=api" } }, { "type": "SmallVariant", "id": "1379", "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": 4.772e-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": 0.0001055, "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": 3.874378, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33039672, "genomic_position_hg38": 31667359, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.745971", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.341T>C", "protein_change": "p.Ile114Thr", "transcript_id": "NM_000454.4", "dbsnp_id": "rs121912441", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI634" }, { "type": "Combination", "id": "OLI635" }, { "type": "Combination", "id": "OLI636" }, { "type": "Combination", "id": "OLI778" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1379/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1379/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1379/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1379/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1379/?format=api" } }, { "type": "SmallVariant", "id": "1428", "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": 1.592e-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": 3.521e-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": 3.180989, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33040861, "genomic_position_hg38": 31668548, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.077902", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.435G>C", "protein_change": "p.Leu145Phe", "transcript_id": "NM_000454.4", "dbsnp_id": "rs1482760341", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI658" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1428/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1428/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1428/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1428/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1428/?format=api" } }, { "type": "SmallVariant", "id": "1709", "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, 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