← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 8-144355595-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144355595&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144355595,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_012162.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1556A>G",
"hgvs_p": "p.Tyr519Cys",
"transcript": "NM_012162.4",
"protein_id": "NP_036294.2",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 539,
"cds_start": 1556,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": "ENST00000331890.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012162.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1556A>G",
"hgvs_p": "p.Tyr519Cys",
"transcript": "ENST00000331890.6",
"protein_id": "ENSP00000330098.5",
"transcript_support_level": 1,
"aa_start": 519,
"aa_end": null,
"aa_length": 539,
"cds_start": 1556,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": "NM_012162.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331890.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Tyr513Cys",
"transcript": "ENST00000455319.6",
"protein_id": "ENSP00000403873.2",
"transcript_support_level": 1,
"aa_start": 513,
"aa_end": null,
"aa_length": 533,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455319.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "n.2944A>G",
"hgvs_p": null,
"transcript": "ENST00000530142.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3108,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000530142.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271698",
"gene_hgnc_id": null,
"hgvs_c": "n.14A>G",
"hgvs_p": null,
"transcript": "ENST00000531225.1",
"protein_id": "ENSP00000436572.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000531225.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Tyr513Cys",
"transcript": "NM_024555.6",
"protein_id": "NP_078831.4",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 533,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024555.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1520A>G",
"hgvs_p": "p.Tyr507Cys",
"transcript": "ENST00000876698.1",
"protein_id": "ENSP00000546757.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 527,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 1763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876698.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1520A>G",
"hgvs_p": "p.Tyr507Cys",
"transcript": "ENST00000948084.1",
"protein_id": "ENSP00000618143.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 527,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 1748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948084.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1517A>G",
"hgvs_p": "p.Tyr506Cys",
"transcript": "ENST00000876699.1",
"protein_id": "ENSP00000546758.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 526,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 1756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876699.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1514A>G",
"hgvs_p": "p.Tyr505Cys",
"transcript": "ENST00000876697.1",
"protein_id": "ENSP00000546756.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 525,
"cds_start": 1514,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 1763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876697.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1475A>G",
"hgvs_p": "p.Tyr492Cys",
"transcript": "ENST00000913928.1",
"protein_id": "ENSP00000583987.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 512,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913928.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1457A>G",
"hgvs_p": "p.Tyr486Cys",
"transcript": "ENST00000876696.1",
"protein_id": "ENSP00000546755.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 506,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876696.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1442A>G",
"hgvs_p": "p.Tyr481Cys",
"transcript": "ENST00000948083.1",
"protein_id": "ENSP00000618142.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 501,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 1676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948083.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1424A>G",
"hgvs_p": "p.Tyr475Cys",
"transcript": "ENST00000913929.1",
"protein_id": "ENSP00000583988.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 495,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 1681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913929.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1397A>G",
"hgvs_p": "p.Tyr466Cys",
"transcript": "ENST00000876701.1",
"protein_id": "ENSP00000546760.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 486,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 1589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876701.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1379A>G",
"hgvs_p": "p.Tyr460Cys",
"transcript": "ENST00000948085.1",
"protein_id": "ENSP00000618144.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 480,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 1568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948085.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1343A>G",
"hgvs_p": "p.Tyr448Cys",
"transcript": "ENST00000913930.1",
"protein_id": "ENSP00000583989.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 468,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913930.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1334A>G",
"hgvs_p": "p.Tyr445Cys",
"transcript": "ENST00000876700.1",
"protein_id": "ENSP00000546759.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 465,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876700.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1265A>G",
"hgvs_p": "p.Tyr422Cys",
"transcript": "ENST00000913931.1",
"protein_id": "ENSP00000583990.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 442,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913931.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1100A>G",
"hgvs_p": "p.Tyr367Cys",
"transcript": "ENST00000876702.1",
"protein_id": "ENSP00000546761.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 387,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876702.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1019A>G",
"hgvs_p": "p.Tyr340Cys",
"transcript": "ENST00000948086.1",
"protein_id": "ENSP00000618145.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 360,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 1207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948086.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-463+905T>C",
"hgvs_p": null,
"transcript": "ENST00000532815.2",
"protein_id": "ENSP00000501933.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": null,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532815.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-111+212T>C",
"hgvs_p": null,
"transcript": "ENST00000675292.1",
"protein_id": "ENSP00000502652.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": null,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675292.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-110-3589T>C",
"hgvs_p": null,
"transcript": "ENST00000675888.1",
"protein_id": "ENSP00000502294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": null,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675888.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-111+905T>C",
"hgvs_p": null,
"transcript": "ENST00000876534.1",
"protein_id": "ENSP00000546593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": null,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876534.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-107+905T>C",
"hgvs_p": null,
"transcript": "ENST00000913643.1",
"protein_id": "ENSP00000583702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": null,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913643.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-111+1284T>C",
"hgvs_p": null,
"transcript": "ENST00000524541.5",
"protein_id": "ENSP00000434239.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": null,
"cds_end": null,
"cds_length": 208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524541.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "n.1843A>G",
"hgvs_p": null,
"transcript": "ENST00000524492.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000524492.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "n.617A>G",
"hgvs_p": null,
"transcript": "ENST00000526524.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 697,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000526524.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "n.193+750T>C",
"hgvs_p": null,
"transcript": "ENST00000644270.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 397,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000644270.1"
}
],
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"dbsnp": "rs140699050",
"frequency_reference_population": 0.00014151049,
"hom_count_reference_population": 0,
"allele_count_reference_population": 228,
"gnomad_exomes_af": 0.000145989,
"gnomad_genomes_af": 0.0000985688,
"gnomad_exomes_ac": 213,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5887815356254578,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.24,
"revel_prediction": "Benign",
"alphamissense_score": 0.4225,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.586,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_012162.4",
"gene_symbol": "FBXL6",
"hgnc_id": 13603,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1556A>G",
"hgvs_p": "p.Tyr519Cys"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000531225.1",
"gene_symbol": "ENSG00000271698",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.14A>G",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000532815.2",
"gene_symbol": "SLC52A2",
"hgnc_id": 30224,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-463+905T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}