Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/MAMLD1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "581", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0652, "KGP_genomes_AFR_maf": 0.007, "KGP_genomes_AMR_maf": 0.1069, "KGP_genomes_EAS_maf": 0.055, "KGP_genomes_EUR_maf": 0.1462, "KGP_genomes_SAS_maf": 0.0404, "gnomad_maf": 0.11, "gnomad_AFR_maf": 0.02326, "gnomad_AMR_maf": 0.1011, "gnomad_ASJ_maf": 0.1565, "gnomad_EAS_maf": 0.05729, "gnomad_FIN_maf": 0.1254, "gnomad_NFE_maf": 0.1423, "gnomad_OTH_maf": 0.1173, "gnomad_SAS_maf": 0.04911, "ESP_AA_maf": 0.02999, "ESP_EA_maf": 0.1451 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.375358, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 149642019, "genomic_position_hg38": 150473747, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.906576", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1985A>G", "protein_change": "p.Asn662Ser", "transcript_id": "NM_001177465.3", "dbsnp_id": "rs2073043", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI299" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/581/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/581/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/581/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/581/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/581/?format=api" } }, { "type": "SmallVariant", "id": "717", "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": 1.052305, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 149680332, "genomic_position_hg38": 150512062, "chromosome": "X", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.770296", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.1986C>G", "protein_change": "p.Ser662Arg", "transcript_id": "NM_001177465.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI343" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/717/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/717/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/717/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/717/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/717/?format=api" } }, { "type": "SmallVariant", "id": "722", "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": 5.491e-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": 1.239e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 5.457566, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 149638986, "genomic_position_hg38": 150470714, "chromosome": "X", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.802464", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1066C>T", "protein_change": "p.Arg356Ter", "transcript_id": "NM_001177465.3", "dbsnp_id": "NA", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI344" }, { "type": "Combination", "id": "OLI345" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/722/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/722/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/722/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/722/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/722/?format=api" } }, { "type": "SmallVariant", "id": "729", "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": "Possibly Damaging", "cadd_prediction": 2.390689, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 149639181, "genomic_position_hg38": 150470909, "chromosome": "X", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.846919", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1261G>C", "protein_change": "p.Ala421Pro", "transcript_id": "NM_001177465.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI346" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/729/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/729/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/729/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/729/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/729/?format=api" } }, { "type": "SmallVariant", "id": "733", "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": 6.01751, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 149638374, "genomic_position_hg38": 150470102, "chromosome": "X", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.872730", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.454C>T", "protein_change": "p.Gln152Ter", "transcript_id": "NM_001177465.3", "dbsnp_id": "NA", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI347" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/733/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/733/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/733/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/733/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/733/?format=api" } }, { "type": "SmallVariant", "id": "736", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0048, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0236, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001642, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.02135, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0004416, "gnomad_SAS_maf": 0.0001048, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.591533, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 149639544, "genomic_position_hg38": 150471272, "chromosome": "X", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.892120", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1624C>T", "protein_change": "p.Pro542Ser", "transcript_id": "NM_001177465.3", "dbsnp_id": "rs146443503", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI348" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/736/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/736/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/736/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/736/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/736/?format=api" } }, { "type": "SmallVariant", "id": "742", "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": 0.777728, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 149638845, "genomic_position_hg38": 150470573, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.930579", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1000C>T", "protein_change": "p.Pro334Ser", "transcript_id": "NM_005491.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI349" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/742/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/742/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/742/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/742/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/742/?format=api" } }, { "type": "SmallVariant", "id": "745", "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": 3.283742, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 149638290, "genomic_position_hg38": 150470018, "chromosome": "X", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.949820", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.370C>T", "protein_change": "p.Gln124Ter", "transcript_id": "NM_001177465.3", "dbsnp_id": "NA", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI350" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/745/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/745/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/745/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/745/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/745/?format=api" } }, { "type": "SmallVariant", "id": "752", "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": 3.033e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0003836, "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": "Benign", "cadd_prediction": 0.3827, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 149681321, "genomic_position_hg38": 150513051, "chromosome": "X", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.995146", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2975C>T", "protein_change": "p.Thr992Ile", "transcript_id": "NM_001177465.3", "dbsnp_id": "rs1221923468", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI351" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/752/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/752/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/752/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/752/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/752/?format=api" } }, { "type": "SmallVariant", "id": "757", "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": 2.003e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0002554, "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": "Benign", "cadd_prediction": -0.148981, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 149681126, "genomic_position_hg38": 150512856, "chromosome": "X", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:45.027189", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.2780G>T", "protein_change": "p.Arg927Leu", "transcript_id": "NM_001177465.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI352" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/757/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/757/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/757/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/757/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/757/?format=api" } }, { "type": "SmallVariant", "id": "1268", 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