← 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: 11-61339400-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61339400&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61339400,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001351977.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "NM_015533.4",
"protein_id": "NP_056348.2",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 575,
"cds_start": 451,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394900.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015533.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "ENST00000394900.8",
"protein_id": "ENSP00000378360.3",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 575,
"cds_start": 451,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015533.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394900.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Arg150Gly",
"transcript": "ENST00000529479.5",
"protein_id": "ENSP00000432539.1",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 533,
"cds_start": 448,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529479.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "n.-166+2968G>C",
"hgvs_p": null,
"transcript": "ENST00000540166.5",
"protein_id": "ENSP00000440269.1",
"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": "ENST00000540166.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "NM_001351977.2",
"protein_id": "NP_001338906.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 598,
"cds_start": 451,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351977.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "ENST00000861187.1",
"protein_id": "ENSP00000531246.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 583,
"cds_start": 451,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861187.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "NM_001351976.2",
"protein_id": "NP_001338905.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 575,
"cds_start": 451,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351976.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "ENST00000861186.1",
"protein_id": "ENSP00000531245.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 575,
"cds_start": 451,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861186.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "ENST00000920730.1",
"protein_id": "ENSP00000590789.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 575,
"cds_start": 451,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920730.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "ENST00000920732.1",
"protein_id": "ENSP00000590791.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 575,
"cds_start": 451,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920732.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "ENST00000920733.1",
"protein_id": "ENSP00000590792.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 575,
"cds_start": 451,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920733.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "ENST00000920734.1",
"protein_id": "ENSP00000590793.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 575,
"cds_start": 451,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920734.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "ENST00000920735.1",
"protein_id": "ENSP00000590794.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 575,
"cds_start": 451,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920735.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "ENST00000920736.1",
"protein_id": "ENSP00000590795.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 575,
"cds_start": 451,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920736.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "ENST00000954340.1",
"protein_id": "ENSP00000624399.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 575,
"cds_start": 451,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954340.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "ENST00000954341.1",
"protein_id": "ENSP00000624400.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 573,
"cds_start": 451,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954341.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "NM_001351978.2",
"protein_id": "NP_001338907.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 568,
"cds_start": 451,
"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": "NM_001351978.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "ENST00000954339.1",
"protein_id": "ENSP00000624398.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 564,
"cds_start": 451,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954339.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "ENST00000861183.1",
"protein_id": "ENSP00000531242.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 545,
"cds_start": 451,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861183.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "ENST00000861184.1",
"protein_id": "ENSP00000531243.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 536,
"cds_start": 451,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861184.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "ENST00000954342.1",
"protein_id": "ENSP00000624401.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 536,
"cds_start": 451,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954342.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "ENST00000920731.1",
"protein_id": "ENSP00000590790.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 535,
"cds_start": 451,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920731.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "NM_001351979.2",
"protein_id": "NP_001338908.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 534,
"cds_start": 451,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351979.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "ENST00000861185.1",
"protein_id": "ENSP00000531244.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 507,
"cds_start": 451,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861185.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.241C>G",
"hgvs_p": "p.Arg81Gly",
"transcript": "NM_001351980.2",
"protein_id": "NP_001338909.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 464,
"cds_start": 241,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351980.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "ENST00000532173.6",
"protein_id": "ENSP00000431844.2",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 161,
"cds_start": 451,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532173.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.589C>G",
"hgvs_p": "p.Arg197Gly",
"transcript": "XM_011544912.4",
"protein_id": "XP_011543214.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 631,
"cds_start": 589,
"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_011544912.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.589C>G",
"hgvs_p": "p.Arg197Gly",
"transcript": "XM_017017517.2",
"protein_id": "XP_016873006.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 621,
"cds_start": 589,
"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": "XM_017017517.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.589C>G",
"hgvs_p": "p.Arg197Gly",
"transcript": "XM_017017518.2",
"protein_id": "XP_016873007.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 614,
"cds_start": 589,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017518.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "XM_017017519.3",
"protein_id": "XP_016873008.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 585,
"cds_start": 451,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017519.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "XM_047426727.1",
"protein_id": "XP_047282683.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 585,
"cds_start": 451,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426727.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "XM_047426728.1",
"protein_id": "XP_047282684.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 585,
"cds_start": 451,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426728.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.589C>G",
"hgvs_p": "p.Arg197Gly",
"transcript": "XM_017017520.2",
"protein_id": "XP_016873009.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 580,
"cds_start": 589,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017520.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "XM_047426729.1",
"protein_id": "XP_047282685.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 575,
"cds_start": 451,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426729.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "XM_047426730.1",
"protein_id": "XP_047282686.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 575,
"cds_start": 451,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426730.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "XM_047426731.1",
"protein_id": "XP_047282687.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 568,
"cds_start": 451,
"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": "XM_047426731.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "XM_047426732.1",
"protein_id": "XP_047282688.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 568,
"cds_start": 451,
"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": "XM_047426732.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "XM_047426733.1",
"protein_id": "XP_047282689.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 534,
"cds_start": 451,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426733.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "XM_047426734.1",
"protein_id": "XP_047282690.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 534,
"cds_start": 451,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426734.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly",
"transcript": "XM_047426735.1",
"protein_id": "XP_047282691.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 534,
"cds_start": 451,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426735.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.-166+2020G>C",
"hgvs_p": null,
"transcript": "ENST00000954149.1",
"protein_id": "ENSP00000624208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1140,
"cds_start": null,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954149.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.-166+2968G>C",
"hgvs_p": null,
"transcript": "ENST00000954150.1",
"protein_id": "ENSP00000624209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1140,
"cds_start": null,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954150.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"hgvs_c": "n.206C>G",
"hgvs_p": null,
"transcript": "ENST00000529092.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000529092.1"
}
],
"gene_symbol": "TKFC",
"gene_hgnc_id": 24552,
"dbsnp": "rs761711882",
"frequency_reference_population": 0.000006570475,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657047,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9629924297332764,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.507,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6876,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.074,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001351977.2",
"gene_symbol": "TKFC",
"hgnc_id": 24552,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Arg151Gly"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000540166.5",
"gene_symbol": "DDB1",
"hgnc_id": 2717,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.-166+2968G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}