← 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: X-9653599-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=9653599&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 9653599,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005647.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "NM_005647.4",
"protein_id": "NP_005638.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 5818,
"mane_select": "ENST00000645353.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005647.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000645353.2",
"protein_id": "ENSP00000496215.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 5818,
"mane_select": "NM_005647.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645353.2"
},
{
"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": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.-50-616G>C",
"hgvs_p": null,
"transcript": "ENST00000380961.5",
"protein_id": "ENSP00000370348.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": null,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380961.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "NM_001139466.1",
"protein_id": "NP_001132938.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 5596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001139466.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000407597.7",
"protein_id": "ENSP00000385988.2",
"transcript_support_level": 2,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 5571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407597.7"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000645686.1",
"protein_id": "ENSP00000493782.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 5121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645686.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000646640.1",
"protein_id": "ENSP00000495556.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 7061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646640.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000869543.1",
"protein_id": "ENSP00000539602.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 5196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869543.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000869544.1",
"protein_id": "ENSP00000539603.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 5549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869544.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000869545.1",
"protein_id": "ENSP00000539604.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 3373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869545.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000869546.1",
"protein_id": "ENSP00000539605.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869546.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000869547.1",
"protein_id": "ENSP00000539606.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869547.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000869548.1",
"protein_id": "ENSP00000539607.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 2458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869548.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000869549.1",
"protein_id": "ENSP00000539608.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869549.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000869550.1",
"protein_id": "ENSP00000539609.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869550.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000970081.1",
"protein_id": "ENSP00000640140.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 6523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970081.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000970082.1",
"protein_id": "ENSP00000640141.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 5542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970082.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000970083.1",
"protein_id": "ENSP00000640142.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 2435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970083.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000970084.1",
"protein_id": "ENSP00000640143.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 3104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970084.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000970085.1",
"protein_id": "ENSP00000640144.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970085.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000970086.1",
"protein_id": "ENSP00000640145.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970086.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro",
"transcript": "ENST00000452824.5",
"protein_id": "ENSP00000397878.1",
"transcript_support_level": 5,
"aa_start": 5,
"aa_end": null,
"aa_length": 78,
"cds_start": 13,
"cds_end": null,
"cds_length": 239,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452824.5"
},
{
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.-50-616G>C",
"hgvs_p": null,
"transcript": "NM_001139467.1",
"protein_id": "NP_001132939.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": null,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5451,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001139467.1"
},
{
"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": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.-50-616G>C",
"hgvs_p": null,
"transcript": "NM_001139468.1",
"protein_id": "NP_001132940.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": null,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001139468.1"
},
{
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.-50-616G>C",
"hgvs_p": null,
"transcript": "ENST00000424279.6",
"protein_id": "ENSP00000394097.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": null,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5415,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424279.6"
},
{
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.-50-616G>C",
"hgvs_p": null,
"transcript": "ENST00000647060.1",
"protein_id": "ENSP00000495467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": null,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647060.1"
},
{
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.-204+13239G>C",
"hgvs_p": null,
"transcript": "ENST00000683056.1",
"protein_id": "ENSP00000507708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": null,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683056.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.-50-616G>C",
"hgvs_p": null,
"transcript": "ENST00000647172.1",
"protein_id": "ENSP00000495835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": null,
"cds_end": null,
"cds_length": 337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647172.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "c.-50-616G>C",
"hgvs_p": null,
"transcript": "ENST00000422314.5",
"protein_id": "ENSP00000415508.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 43,
"cds_start": null,
"cds_end": null,
"cds_length": 134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422314.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"hgvs_c": "n.528G>C",
"hgvs_p": null,
"transcript": "ENST00000415293.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 3342,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000415293.6"
}
],
"gene_symbol": "TBL1X",
"gene_hgnc_id": 11585,
"dbsnp": "rs138597617",
"frequency_reference_population": 0.0000034229197,
"hom_count_reference_population": 2,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000284116,
"gnomad_genomes_af": 0.00000887414,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06581419706344604,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.177,
"revel_prediction": "Benign",
"alphamissense_score": 0.0787,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.566,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005647.4",
"gene_symbol": "TBL1X",
"hgnc_id": 11585,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,XL",
"hgvs_c": "c.13G>C",
"hgvs_p": "p.Ala5Pro"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}