Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/TPO/variants/?format=api
https://olida.ibsquare.be/api/variants/64/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/64/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/64/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/64/gene/?format=api" }, "data": { "type": "Gene", "id": "TPO" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/64/?format=api" } }, { "type": "SmallVariant", "id": "65", "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": 1.196e-05, "gnomad_AFR_maf": 0.0001856, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.179962, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1488564, "genomic_position_hg38": 1484792, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.905738", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1535C>A", "protein_change": "p.Pro512His", "transcript_id": "NM_000547.5", "dbsnp_id": "rs150489706", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI031" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/65/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/65/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/65/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/65/gene/?format=api" }, "data": { "type": "Gene", "id": "TPO" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/65/?format=api" } }, { "type": "SmallVariant", "id": "66", "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": 8.798e-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": 4.201137, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 1491754, "genomic_position_hg38": 1487982, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.911897", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1759G>A", "protein_change": "p.Gly587Arg", "transcript_id": "NM_000547.5", "dbsnp_id": "rs770562452", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI031" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/66/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/66/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/66/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/66/gene/?format=api" }, "data": { "type": "Gene", "id": "TPO" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/66/?format=api" } }, { "type": "SmallVariant", "id": "1003", "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": 7.568734, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 1500420, "genomic_position_hg38": 1496648, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.530637", "ref_allele": "G", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Glu757Ter", "transcript_id": null, "dbsnp_id": "rs1672380835", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI468" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1003/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1003/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1003/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1003/gene/?format=api" }, "data": { "type": "Gene", "id": "TPO" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1003/?format=api" } }, { "type": "SmallVariant", "id": "1006", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0014, "KGP_genomes_AFR_maf": 0.0038, "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": 0.0003466, "gnomad_AFR_maf": 0.003145, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001686, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.764e-05, "gnomad_OTH_maf": 0.0001633, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": 0.003404, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.34933, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1520672, "genomic_position_hg38": 1516900, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.548742", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg846Trp", "transcript_id": null, "dbsnp_id": "rs28913014", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI469" }, { "type": "Combination", "id": "OLI474" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1006/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1006/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1006/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1006/gene/?format=api" }, "data": { "type": "Gene", "id": "TPO" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1006/?format=api" } }, { "type": "SmallVariant", "id": "1015", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0014, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0069, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0004462, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.005876, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0003264, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.409501, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 1544394, "genomic_position_hg38": 1540622, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.602980", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Pro883Ser", "transcript_id": null, "dbsnp_id": "rs190968346", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI471" }, { "type": "Combination", "id": "OLI472" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1015/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1015/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1015/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1015/gene/?format=api" }, "data": { "type": "Gene", "id": "TPO" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1015/?format=api" } }, { "type": "SmallVariant", "id": "1101", "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": 3.180612, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 1507728, "genomic_position_hg38": 1503956, "chromosome": "2", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:47.137916", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.2395G>C", "protein_change": "p.Glu799Gln", "transcript_id": "NM_001206744.1", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI519" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1101/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1101/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1101/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1101/gene/?format=api" }, "data": { "type": "Gene", "id": "TPO" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1101/?format=api" } }, { "type": "SmallVariant", "id": "1246", "attributes": { "frequencies": { "KGP_genomes_maf": 0.012, "KGP_genomes_AFR_maf": 0.0439, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001697, "gnomad_AFR_maf": 0.02901, "gnomad_AMR_maf": 0.001556, "gnomad_ASJ_maf": 0.0005062, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0003078, "gnomad_OTH_maf": 0.001786, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0145, "ESP_EA_maf": 0.0001397 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.534544, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1481315, "genomic_position_hg38": 1477543, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.989105", "ref_allele": "C", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Ala426Gly", "transcript_id": null, "dbsnp_id": "rs61758082", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI586" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1246/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1246/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1246/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1246/gene/?format=api" }, "data": { "type": "Gene", "id": "TPO" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1246/?format=api" } }, { "type": "SmallVariant", "id": "1248", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002462, "gnomad_AFR_maf": 0.0001236, "gnomad_AMR_maf": 0.001157, "gnomad_ASJ_maf": 0.02436, "gnomad_EAS_maf": 5.448e-05, "gnomad_FIN_maf": 0.0005084, "gnomad_NFE_maf": 0.002644, "gnomad_OTH_maf": 0.002778, "gnomad_SAS_maf": 6.534e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.003488 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.34471, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1544464, "genomic_position_hg38": 1540692, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.001179", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Pro906Leu", "transcript_id": null, "dbsnp_id": "rs138289170", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI587" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1248/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1248/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1248/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1248/gene/?format=api" }, "data": { "type": "Gene", "id": "TPO" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1248/?format=api" } }, { "type": "SmallVariant", "id": "1260", "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": 3.581e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002313, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.797e-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": 4.056207, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 1488494, "genomic_position_hg38": 1484722, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.063374", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Ala489Thr", "transcript_id": null, "dbsnp_id": "rs755919271", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI594" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1260/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1260/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1260/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1260/gene/?format=api" }, "data": { "type": "Gene", "id": "TPO" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1260/?format=api" } }, { "type": "SmallVariant", "id": "1264", "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": 0.204723, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 186327, "genomic_position_hg38": 186327, "chromosome": "2", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.088275", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2395G>A", "protein_change": "p.Glu799Lys", "transcript_id": "NM_001206744.2", "dbsnp_id": "rs121908085", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": 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