← 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: 22-19183471-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19183471&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19183471,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_007098.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4746G>A",
"hgvs_p": "p.Val1582Val",
"transcript": "NM_007098.4",
"protein_id": "NP_009029.3",
"transcript_support_level": null,
"aa_start": 1582,
"aa_end": null,
"aa_length": 1640,
"cds_start": 4746,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000427926.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007098.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4746G>A",
"hgvs_p": "p.Val1582Val",
"transcript": "ENST00000427926.6",
"protein_id": "ENSP00000441158.1",
"transcript_support_level": 1,
"aa_start": 1582,
"aa_end": null,
"aa_length": 1640,
"cds_start": 4746,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007098.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427926.6"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4575G>A",
"hgvs_p": "p.Val1525Val",
"transcript": "ENST00000621271.4",
"protein_id": "ENSP00000485020.1",
"transcript_support_level": 1,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1583,
"cds_start": 4575,
"cds_end": null,
"cds_length": 4752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621271.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "n.4839G>A",
"hgvs_p": null,
"transcript": "ENST00000615606.4",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000615606.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "n.*901G>A",
"hgvs_p": null,
"transcript": "ENST00000617103.4",
"protein_id": "ENSP00000480709.1",
"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": "ENST00000617103.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "n.*901G>A",
"hgvs_p": null,
"transcript": "ENST00000617103.4",
"protein_id": "ENSP00000480709.1",
"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": "ENST00000617103.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4746G>A",
"hgvs_p": "p.Val1582Val",
"transcript": "ENST00000965499.1",
"protein_id": "ENSP00000635558.1",
"transcript_support_level": null,
"aa_start": 1582,
"aa_end": null,
"aa_length": 1640,
"cds_start": 4746,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965499.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4746G>A",
"hgvs_p": "p.Val1582Val",
"transcript": "ENST00000897134.1",
"protein_id": "ENSP00000567193.1",
"transcript_support_level": null,
"aa_start": 1582,
"aa_end": null,
"aa_length": 1632,
"cds_start": 4746,
"cds_end": null,
"cds_length": 4899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897134.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4686G>A",
"hgvs_p": "p.Val1562Val",
"transcript": "ENST00000965503.1",
"protein_id": "ENSP00000635562.1",
"transcript_support_level": null,
"aa_start": 1562,
"aa_end": null,
"aa_length": 1620,
"cds_start": 4686,
"cds_end": null,
"cds_length": 4863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965503.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4638G>A",
"hgvs_p": "p.Val1546Val",
"transcript": "ENST00000965502.1",
"protein_id": "ENSP00000635561.1",
"transcript_support_level": null,
"aa_start": 1546,
"aa_end": null,
"aa_length": 1604,
"cds_start": 4638,
"cds_end": null,
"cds_length": 4815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965502.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4632G>A",
"hgvs_p": "p.Val1544Val",
"transcript": "ENST00000897132.1",
"protein_id": "ENSP00000567191.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1602,
"cds_start": 4632,
"cds_end": null,
"cds_length": 4809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897132.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4593G>A",
"hgvs_p": "p.Val1531Val",
"transcript": "ENST00000932470.1",
"protein_id": "ENSP00000602529.1",
"transcript_support_level": null,
"aa_start": 1531,
"aa_end": null,
"aa_length": 1589,
"cds_start": 4593,
"cds_end": null,
"cds_length": 4770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932470.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4581G>A",
"hgvs_p": "p.Val1527Val",
"transcript": "ENST00000965514.1",
"protein_id": "ENSP00000635573.1",
"transcript_support_level": null,
"aa_start": 1527,
"aa_end": null,
"aa_length": 1585,
"cds_start": 4581,
"cds_end": null,
"cds_length": 4758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965514.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4578G>A",
"hgvs_p": "p.Val1526Val",
"transcript": "ENST00000932468.1",
"protein_id": "ENSP00000602527.1",
"transcript_support_level": null,
"aa_start": 1526,
"aa_end": null,
"aa_length": 1584,
"cds_start": 4578,
"cds_end": null,
"cds_length": 4755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932468.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4575G>A",
"hgvs_p": "p.Val1525Val",
"transcript": "NM_001835.4",
"protein_id": "NP_001826.3",
"transcript_support_level": null,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1583,
"cds_start": 4575,
"cds_end": null,
"cds_length": 4752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001835.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4575G>A",
"hgvs_p": "p.Val1525Val",
"transcript": "ENST00000965511.1",
"protein_id": "ENSP00000635570.1",
"transcript_support_level": null,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1583,
"cds_start": 4575,
"cds_end": null,
"cds_length": 4752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965511.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4572G>A",
"hgvs_p": "p.Val1524Val",
"transcript": "ENST00000932469.1",
"protein_id": "ENSP00000602528.1",
"transcript_support_level": null,
"aa_start": 1524,
"aa_end": null,
"aa_length": 1582,
"cds_start": 4572,
"cds_end": null,
"cds_length": 4749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932469.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4572G>A",
"hgvs_p": "p.Val1524Val",
"transcript": "ENST00000965515.1",
"protein_id": "ENSP00000635574.1",
"transcript_support_level": null,
"aa_start": 1524,
"aa_end": null,
"aa_length": 1582,
"cds_start": 4572,
"cds_end": null,
"cds_length": 4749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965515.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4575G>A",
"hgvs_p": "p.Val1525Val",
"transcript": "ENST00000897133.1",
"protein_id": "ENSP00000567192.1",
"transcript_support_level": null,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1575,
"cds_start": 4575,
"cds_end": null,
"cds_length": 4728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897133.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4533G>A",
"hgvs_p": "p.Val1511Val",
"transcript": "ENST00000965496.1",
"protein_id": "ENSP00000635555.1",
"transcript_support_level": null,
"aa_start": 1511,
"aa_end": null,
"aa_length": 1569,
"cds_start": 4533,
"cds_end": null,
"cds_length": 4710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965496.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4473G>A",
"hgvs_p": "p.Val1491Val",
"transcript": "ENST00000965498.1",
"protein_id": "ENSP00000635557.1",
"transcript_support_level": null,
"aa_start": 1491,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4473,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965498.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4464G>A",
"hgvs_p": "p.Val1488Val",
"transcript": "ENST00000965495.1",
"protein_id": "ENSP00000635554.1",
"transcript_support_level": null,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1546,
"cds_start": 4464,
"cds_end": null,
"cds_length": 4641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965495.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4464G>A",
"hgvs_p": "p.Val1488Val",
"transcript": "ENST00000965512.1",
"protein_id": "ENSP00000635571.1",
"transcript_support_level": null,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1546,
"cds_start": 4464,
"cds_end": null,
"cds_length": 4641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965512.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4461G>A",
"hgvs_p": "p.Val1487Val",
"transcript": "ENST00000965501.1",
"protein_id": "ENSP00000635560.1",
"transcript_support_level": null,
"aa_start": 1487,
"aa_end": null,
"aa_length": 1545,
"cds_start": 4461,
"cds_end": null,
"cds_length": 4638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965501.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4443G>A",
"hgvs_p": "p.Val1481Val",
"transcript": "ENST00000965504.1",
"protein_id": "ENSP00000635563.1",
"transcript_support_level": null,
"aa_start": 1481,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4443,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965504.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4464G>A",
"hgvs_p": "p.Val1488Val",
"transcript": "ENST00000965510.1",
"protein_id": "ENSP00000635569.1",
"transcript_support_level": null,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1538,
"cds_start": 4464,
"cds_end": null,
"cds_length": 4617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965510.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4422G>A",
"hgvs_p": "p.Val1474Val",
"transcript": "ENST00000965508.1",
"protein_id": "ENSP00000635567.1",
"transcript_support_level": null,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4422,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965508.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4401G>A",
"hgvs_p": "p.Val1467Val",
"transcript": "ENST00000965513.1",
"protein_id": "ENSP00000635572.1",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1525,
"cds_start": 4401,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965513.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4350G>A",
"hgvs_p": "p.Val1450Val",
"transcript": "ENST00000965497.1",
"protein_id": "ENSP00000635556.1",
"transcript_support_level": null,
"aa_start": 1450,
"aa_end": null,
"aa_length": 1508,
"cds_start": 4350,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965497.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4302G>A",
"hgvs_p": "p.Val1434Val",
"transcript": "ENST00000965500.1",
"protein_id": "ENSP00000635559.1",
"transcript_support_level": null,
"aa_start": 1434,
"aa_end": null,
"aa_length": 1492,
"cds_start": 4302,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965500.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4290G>A",
"hgvs_p": "p.Val1430Val",
"transcript": "ENST00000965505.1",
"protein_id": "ENSP00000635564.1",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4290,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965505.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4290G>A",
"hgvs_p": "p.Val1430Val",
"transcript": "ENST00000965517.1",
"protein_id": "ENSP00000635576.1",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4290,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965517.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4230G>A",
"hgvs_p": "p.Val1410Val",
"transcript": "ENST00000965507.1",
"protein_id": "ENSP00000635566.1",
"transcript_support_level": null,
"aa_start": 1410,
"aa_end": null,
"aa_length": 1468,
"cds_start": 4230,
"cds_end": null,
"cds_length": 4407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965507.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4098G>A",
"hgvs_p": "p.Val1366Val",
"transcript": "ENST00000965506.1",
"protein_id": "ENSP00000635565.1",
"transcript_support_level": null,
"aa_start": 1366,
"aa_end": null,
"aa_length": 1424,
"cds_start": 4098,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965506.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4098G>A",
"hgvs_p": "p.Val1366Val",
"transcript": "ENST00000965509.1",
"protein_id": "ENSP00000635568.1",
"transcript_support_level": null,
"aa_start": 1366,
"aa_end": null,
"aa_length": 1424,
"cds_start": 4098,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965509.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.3726G>A",
"hgvs_p": "p.Val1242Val",
"transcript": "ENST00000965516.1",
"protein_id": "ENSP00000635575.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3726,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965516.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.1215G>A",
"hgvs_p": "p.Val405Val",
"transcript": "ENST00000617926.4",
"protein_id": "ENSP00000481031.1",
"transcript_support_level": 2,
"aa_start": 405,
"aa_end": null,
"aa_length": 463,
"cds_start": 1215,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617926.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.933G>A",
"hgvs_p": "p.Val311Val",
"transcript": "ENST00000622493.4",
"protein_id": "ENSP00000479237.1",
"transcript_support_level": 2,
"aa_start": 311,
"aa_end": null,
"aa_length": 369,
"cds_start": 933,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622493.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4746G>A",
"hgvs_p": "p.Val1582Val",
"transcript": "XM_017028953.3",
"protein_id": "XP_016884442.1",
"transcript_support_level": null,
"aa_start": 1582,
"aa_end": null,
"aa_length": 1632,
"cds_start": 4746,
"cds_end": null,
"cds_length": 4899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028953.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4632G>A",
"hgvs_p": "p.Val1544Val",
"transcript": "XM_017028954.3",
"protein_id": "XP_016884443.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1602,
"cds_start": 4632,
"cds_end": null,
"cds_length": 4809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028954.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4572G>A",
"hgvs_p": "p.Val1524Val",
"transcript": "XM_047441511.1",
"protein_id": "XP_047297467.1",
"transcript_support_level": null,
"aa_start": 1524,
"aa_end": null,
"aa_length": 1582,
"cds_start": 4572,
"cds_end": null,
"cds_length": 4749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441511.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4575G>A",
"hgvs_p": "p.Val1525Val",
"transcript": "XM_047441512.1",
"protein_id": "XP_047297468.1",
"transcript_support_level": null,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1575,
"cds_start": 4575,
"cds_end": null,
"cds_length": 4728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441512.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4572G>A",
"hgvs_p": "p.Val1524Val",
"transcript": "XM_047441513.1",
"protein_id": "XP_047297469.1",
"transcript_support_level": null,
"aa_start": 1524,
"aa_end": null,
"aa_length": 1574,
"cds_start": 4572,
"cds_end": null,
"cds_length": 4725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441513.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4530G>A",
"hgvs_p": "p.Val1510Val",
"transcript": "XM_017028955.3",
"protein_id": "XP_016884444.1",
"transcript_support_level": null,
"aa_start": 1510,
"aa_end": null,
"aa_length": 1568,
"cds_start": 4530,
"cds_end": null,
"cds_length": 4707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028955.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4464G>A",
"hgvs_p": "p.Val1488Val",
"transcript": "XM_017028956.3",
"protein_id": "XP_016884445.1",
"transcript_support_level": null,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1546,
"cds_start": 4464,
"cds_end": null,
"cds_length": 4641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028956.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4464G>A",
"hgvs_p": "p.Val1488Val",
"transcript": "XM_047441514.1",
"protein_id": "XP_047297470.1",
"transcript_support_level": null,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1546,
"cds_start": 4464,
"cds_end": null,
"cds_length": 4641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441514.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4461G>A",
"hgvs_p": "p.Val1487Val",
"transcript": "XM_047441515.1",
"protein_id": "XP_047297471.1",
"transcript_support_level": null,
"aa_start": 1487,
"aa_end": null,
"aa_length": 1545,
"cds_start": 4461,
"cds_end": null,
"cds_length": 4638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441515.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4401G>A",
"hgvs_p": "p.Val1467Val",
"transcript": "XM_047441516.1",
"protein_id": "XP_047297472.1",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1525,
"cds_start": 4401,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441516.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4350G>A",
"hgvs_p": "p.Val1450Val",
"transcript": "XM_047441517.1",
"protein_id": "XP_047297473.1",
"transcript_support_level": null,
"aa_start": 1450,
"aa_end": null,
"aa_length": 1508,
"cds_start": 4350,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441517.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4290G>A",
"hgvs_p": "p.Val1430Val",
"transcript": "XM_047441518.1",
"protein_id": "XP_047297474.1",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4290,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441518.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.2937G>A",
"hgvs_p": "p.Val979Val",
"transcript": "XM_011530401.2",
"protein_id": "XP_011528703.1",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2937,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530401.2"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "n.1361G>A",
"hgvs_p": null,
"transcript": "ENST00000412649.5",
"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": "ENST00000412649.5"
},
{
"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": "LINC01311",
"gene_hgnc_id": 50503,
"hgvs_c": "n.304-870C>T",
"hgvs_p": null,
"transcript": "ENST00000804544.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000804544.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "n.*249G>A",
"hgvs_p": null,
"transcript": "ENST00000538828.1",
"protein_id": "ENSP00000443582.1",
"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": "ENST00000538828.1"
}
],
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.442,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6,BP7",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_007098.4",
"gene_symbol": "CLTCL1",
"hgnc_id": 2093,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4746G>A",
"hgvs_p": "p.Val1582Val"
},
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000804544.1",
"gene_symbol": "LINC01311",
"hgnc_id": 50503,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.304-870C>T",
"hgvs_p": null
}
],
"clinvar_disease": "CLTCL1-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "CLTCL1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}