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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: 17-59620165-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=59620165&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 59620165,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001288653.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "NM_004859.4",
"protein_id": "NP_004850.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1675,
"cds_start": 34,
"cds_end": null,
"cds_length": 5028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269122.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004859.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000269122.8",
"protein_id": "ENSP00000269122.3",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 1675,
"cds_start": 34,
"cds_end": null,
"cds_length": 5028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004859.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269122.8"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000393043.5",
"protein_id": "ENSP00000376763.1",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 1639,
"cds_start": 34,
"cds_end": null,
"cds_length": 4920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393043.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000700714.2",
"protein_id": "ENSP00000515154.2",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1721,
"cds_start": 34,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700714.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000935244.1",
"protein_id": "ENSP00000605303.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1686,
"cds_start": 34,
"cds_end": null,
"cds_length": 5061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935244.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000472651.6",
"protein_id": "ENSP00000465200.2",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 1682,
"cds_start": 34,
"cds_end": null,
"cds_length": 5049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472651.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000700709.1",
"protein_id": "ENSP00000515149.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1680,
"cds_start": 34,
"cds_end": null,
"cds_length": 5043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700709.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "NM_001288653.2",
"protein_id": "NP_001275582.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1679,
"cds_start": 34,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288653.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000580081.2",
"protein_id": "ENSP00000462592.2",
"transcript_support_level": 4,
"aa_start": 12,
"aa_end": null,
"aa_length": 1679,
"cds_start": 34,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580081.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000700711.1",
"protein_id": "ENSP00000515151.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1679,
"cds_start": 34,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700711.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000700713.1",
"protein_id": "ENSP00000515153.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1676,
"cds_start": 34,
"cds_end": null,
"cds_length": 5031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700713.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000700707.1",
"protein_id": "ENSP00000515147.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1675,
"cds_start": 34,
"cds_end": null,
"cds_length": 5028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700707.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000935243.1",
"protein_id": "ENSP00000605302.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1672,
"cds_start": 34,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935243.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000714242.1",
"protein_id": "ENSP00000519522.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1668,
"cds_start": 34,
"cds_end": null,
"cds_length": 5007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714242.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000700715.2",
"protein_id": "ENSP00000515155.2",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1656,
"cds_start": 34,
"cds_end": null,
"cds_length": 4971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700715.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000714241.1",
"protein_id": "ENSP00000519521.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1638,
"cds_start": 34,
"cds_end": null,
"cds_length": 4917,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714241.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000935242.1",
"protein_id": "ENSP00000605301.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1637,
"cds_start": 34,
"cds_end": null,
"cds_length": 4914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935242.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000475458.3",
"protein_id": "ENSP00000461977.3",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 1629,
"cds_start": 34,
"cds_end": null,
"cds_length": 4890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475458.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000891782.1",
"protein_id": "ENSP00000561841.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
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"cds_start": 34,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891782.1"
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000714182.1",
"protein_id": "ENSP00000519471.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
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"cds_start": 34,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714182.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000891780.1",
"protein_id": "ENSP00000561839.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1618,
"cds_start": 34,
"cds_end": null,
"cds_length": 4857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891780.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr",
"transcript": "ENST00000700708.1",
"protein_id": "ENSP00000515148.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1617,
"cds_start": 34,
"cds_end": null,
"cds_length": 4854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700708.1"
},
{
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"protein_coding": true,
"strand": true,
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{
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"feature": "ENST00000579456.5"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"gene_symbol": "CLTC",
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"transcript": "ENST00000891781.1",
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"biotype": "protein_coding",
"feature": "ENST00000891781.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
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"gene_symbol": "CLTC",
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"hgvs_c": "c.-181C>T",
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"transcript": "ENST00000700712.1",
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"feature": "ENST00000700712.1"
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{
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"protein_coding": true,
"strand": true,
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"gene_symbol": "CLTC",
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"hgvs_c": "c.-100C>T",
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"transcript": "ENST00000714180.1",
"protein_id": "ENSP00000519469.1",
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"feature": "ENST00000714180.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "CLTC",
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"transcript": "ENST00000483176.3",
"protein_id": "ENSP00000463068.3",
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"feature": "ENST00000483176.3"
},
{
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"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
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"transcript": "ENST00000584313.5",
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"feature": "ENST00000584313.5"
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{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "CLTC",
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"transcript": "ENST00000714181.1",
"protein_id": "ENSP00000519470.1",
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"feature": "ENST00000714181.1"
},
{
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"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "CLTC",
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"transcript": "ENST00000714243.1",
"protein_id": "ENSP00000519523.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000714243.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"gene_symbol": "ENSG00000273702",
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"hgvs_c": "n.-144G>A",
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"transcript": "ENST00000611877.2",
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"biotype": "pseudogene",
"feature": "ENST00000611877.2"
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],
"gene_symbol": "CLTC",
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"dbsnp": "rs2031319375",
"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": 0.2089802324771881,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.194,
"revel_prediction": "Benign",
"alphamissense_score": 0.544,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.588,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001288653.2",
"gene_symbol": "CLTC",
"hgnc_id": 2092,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.34C>T",
"hgvs_p": "p.His12Tyr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000611877.2",
"gene_symbol": "ENSG00000273702",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-144G>A",
"hgvs_p": null
}
],
"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
}