← 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: 3-53231401-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53231401&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 53231401,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001258028.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.898A>C",
"hgvs_p": "p.Asn300His",
"transcript": "NM_001064.4",
"protein_id": "NP_001055.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 623,
"cds_start": 898,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000462138.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001064.4"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.898A>C",
"hgvs_p": "p.Asn300His",
"transcript": "ENST00000462138.6",
"protein_id": "ENSP00000417773.1",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 623,
"cds_start": 898,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001064.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462138.6"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.898A>C",
"hgvs_p": "p.Asn300His",
"transcript": "ENST00000423525.6",
"protein_id": "ENSP00000405455.2",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 623,
"cds_start": 898,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423525.6"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.922A>C",
"hgvs_p": "p.Asn308His",
"transcript": "NM_001258028.2",
"protein_id": "NP_001244957.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 631,
"cds_start": 922,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258028.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.922A>C",
"hgvs_p": "p.Asn308His",
"transcript": "ENST00000423516.5",
"protein_id": "ENSP00000391481.1",
"transcript_support_level": 2,
"aa_start": 308,
"aa_end": null,
"aa_length": 631,
"cds_start": 922,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423516.5"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.913A>C",
"hgvs_p": "p.Asn305His",
"transcript": "ENST00000869610.1",
"protein_id": "ENSP00000539669.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 628,
"cds_start": 913,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869610.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.922A>C",
"hgvs_p": "p.Asn308His",
"transcript": "ENST00000935664.1",
"protein_id": "ENSP00000605723.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 626,
"cds_start": 922,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935664.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.898A>C",
"hgvs_p": "p.Asn300His",
"transcript": "NM_001135055.3",
"protein_id": "NP_001128527.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 623,
"cds_start": 898,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135055.3"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.895A>C",
"hgvs_p": "p.Asn299His",
"transcript": "ENST00000935660.1",
"protein_id": "ENSP00000605719.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 622,
"cds_start": 895,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935660.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.892A>C",
"hgvs_p": "p.Asn298His",
"transcript": "ENST00000935658.1",
"protein_id": "ENSP00000605717.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 621,
"cds_start": 892,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935658.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.892A>C",
"hgvs_p": "p.Asn298His",
"transcript": "ENST00000935661.1",
"protein_id": "ENSP00000605720.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 621,
"cds_start": 892,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935661.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.889A>C",
"hgvs_p": "p.Asn297His",
"transcript": "ENST00000935663.1",
"protein_id": "ENSP00000605722.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 620,
"cds_start": 889,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935663.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.898A>C",
"hgvs_p": "p.Asn300His",
"transcript": "ENST00000935662.1",
"protein_id": "ENSP00000605721.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 619,
"cds_start": 898,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935662.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.883A>C",
"hgvs_p": "p.Asn295His",
"transcript": "ENST00000935659.1",
"protein_id": "ENSP00000605718.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 618,
"cds_start": 883,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935659.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.877A>C",
"hgvs_p": "p.Asn293His",
"transcript": "ENST00000971005.1",
"protein_id": "ENSP00000641064.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 616,
"cds_start": 877,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971005.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.898A>C",
"hgvs_p": "p.Asn300His",
"transcript": "ENST00000971004.1",
"protein_id": "ENSP00000641063.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 604,
"cds_start": 898,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971004.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.898A>C",
"hgvs_p": "p.Asn300His",
"transcript": "ENST00000869612.1",
"protein_id": "ENSP00000539671.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 593,
"cds_start": 898,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869612.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.898A>C",
"hgvs_p": "p.Asn300His",
"transcript": "ENST00000935665.1",
"protein_id": "ENSP00000605724.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 568,
"cds_start": 898,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935665.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.706A>C",
"hgvs_p": "p.Asn236His",
"transcript": "ENST00000869613.1",
"protein_id": "ENSP00000539672.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 559,
"cds_start": 706,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869613.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.568A>C",
"hgvs_p": "p.Asn190His",
"transcript": "ENST00000869611.1",
"protein_id": "ENSP00000539670.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 513,
"cds_start": 568,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869611.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "c.922A>C",
"hgvs_p": "p.Asn308His",
"transcript": "XM_011534054.2",
"protein_id": "XP_011532356.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 631,
"cds_start": 922,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534054.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "n.*326A>C",
"hgvs_p": null,
"transcript": "ENST00000450814.6",
"protein_id": "ENSP00000413503.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000450814.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"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": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "n.4207A>C",
"hgvs_p": null,
"transcript": "ENST00000460343.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460343.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "n.899A>C",
"hgvs_p": null,
"transcript": "ENST00000461139.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000461139.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "n.898A>C",
"hgvs_p": null,
"transcript": "ENST00000469678.1",
"protein_id": "ENSP00000418340.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000469678.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "n.868A>C",
"hgvs_p": null,
"transcript": "NR_047580.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_047580.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "n.*326A>C",
"hgvs_p": null,
"transcript": "ENST00000450814.6",
"protein_id": "ENSP00000413503.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000450814.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "n.*817A>C",
"hgvs_p": null,
"transcript": "ENST00000472528.5",
"protein_id": "ENSP00000417312.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000472528.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"hgvs_c": "n.*59A>C",
"hgvs_p": null,
"transcript": "ENST00000494523.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494523.2"
}
],
"gene_symbol": "TKT",
"gene_hgnc_id": 11834,
"dbsnp": "rs143676012",
"frequency_reference_population": 0.000004337309,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 6.84146e-7,
"gnomad_genomes_af": 0.0000394146,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.31460681557655334,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.204,
"revel_prediction": "Benign",
"alphamissense_score": 0.0926,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.255,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001258028.2",
"gene_symbol": "TKT",
"hgnc_id": 11834,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.922A>C",
"hgvs_p": "p.Asn308His"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}