← 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: 10-14908594-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=14908594&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 14908594,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000378278.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1893C>T",
"hgvs_p": "p.Pro631Pro",
"transcript": "NM_001033855.3",
"protein_id": "NP_001029027.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 692,
"cds_start": 1893,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 5960,
"mane_select": "ENST00000378278.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1893C>T",
"hgvs_p": "p.Pro631Pro",
"transcript": "ENST00000378278.7",
"protein_id": "ENSP00000367527.2",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 692,
"cds_start": 1893,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 5960,
"mane_select": "NM_001033855.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1551C>T",
"hgvs_p": null,
"transcript": "ENST00000357717.6",
"protein_id": "ENSP00000350349.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1510C>T",
"hgvs_p": null,
"transcript": "ENST00000378246.6",
"protein_id": "ENSP00000367492.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1671C>T",
"hgvs_p": null,
"transcript": "ENST00000378249.5",
"protein_id": "ENSP00000367496.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1853C>T",
"hgvs_p": null,
"transcript": "ENST00000378254.5",
"protein_id": "ENSP00000367502.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*2175C>T",
"hgvs_p": null,
"transcript": "ENST00000378255.5",
"protein_id": "ENSP00000367503.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1813C>T",
"hgvs_p": null,
"transcript": "ENST00000378258.5",
"protein_id": "ENSP00000367506.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*2135C>T",
"hgvs_p": null,
"transcript": "ENST00000396817.6",
"protein_id": "ENSP00000380030.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1551C>T",
"hgvs_p": null,
"transcript": "ENST00000357717.6",
"protein_id": "ENSP00000350349.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1510C>T",
"hgvs_p": null,
"transcript": "ENST00000378246.6",
"protein_id": "ENSP00000367492.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1671C>T",
"hgvs_p": null,
"transcript": "ENST00000378249.5",
"protein_id": "ENSP00000367496.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1853C>T",
"hgvs_p": null,
"transcript": "ENST00000378254.5",
"protein_id": "ENSP00000367502.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*2175C>T",
"hgvs_p": null,
"transcript": "ENST00000378255.5",
"protein_id": "ENSP00000367503.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1813C>T",
"hgvs_p": null,
"transcript": "ENST00000378258.5",
"protein_id": "ENSP00000367506.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*2135C>T",
"hgvs_p": null,
"transcript": "ENST00000396817.6",
"protein_id": "ENSP00000380030.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1157-9282C>T",
"hgvs_p": null,
"transcript": "ENST00000378289.8",
"protein_id": "ENSP00000367538.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": -4,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1893C>T",
"hgvs_p": "p.Pro631Pro",
"transcript": "ENST00000697070.1",
"protein_id": "ENSP00000513085.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 725,
"cds_start": 1893,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1959,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Pro650Pro",
"transcript": "ENST00000697084.1",
"protein_id": "ENSP00000513098.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 711,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1893C>T",
"hgvs_p": "p.Pro631Pro",
"transcript": "ENST00000697075.1",
"protein_id": "ENSP00000513090.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 692,
"cds_start": 1893,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1548C>T",
"hgvs_p": "p.Pro516Pro",
"transcript": "NM_001289076.2",
"protein_id": "NP_001276005.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 577,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 5819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1548C>T",
"hgvs_p": "p.Pro516Pro",
"transcript": "NM_001289078.2",
"protein_id": "NP_001276007.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 577,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1871,
"cdna_end": null,
"cdna_length": 5852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1548C>T",
"hgvs_p": "p.Pro516Pro",
"transcript": "NM_022487.4",
"protein_id": "NP_071932.2",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 577,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1923,
"cdna_end": null,
"cdna_length": 5904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1533C>T",
"hgvs_p": "p.Pro511Pro",
"transcript": "NM_001033857.3",
"protein_id": "NP_001029029.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 572,
"cds_start": 1533,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 6045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1533C>T",
"hgvs_p": "p.Pro511Pro",
"transcript": "NM_001033858.3",
"protein_id": "NP_001029030.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 572,
"cds_start": 1533,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 2386,
"cdna_end": null,
"cdna_length": 6367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1533C>T",
"hgvs_p": "p.Pro511Pro",
"transcript": "NM_001289077.2",
"protein_id": "NP_001276006.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 572,
"cds_start": 1533,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1533C>T",
"hgvs_p": "p.Pro511Pro",
"transcript": "NM_001289079.2",
"protein_id": "NP_001276008.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 572,
"cds_start": 1533,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 2432,
"cdna_end": null,
"cdna_length": 6413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1548C>T",
"hgvs_p": "p.Pro516Pro",
"transcript": "XM_047425648.1",
"protein_id": "XP_047281604.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 577,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1779,
"cdna_end": null,
"cdna_length": 5762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1548C>T",
"hgvs_p": "p.Pro516Pro",
"transcript": "XM_047425649.1",
"protein_id": "XP_047281605.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 577,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 5875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1548C>T",
"hgvs_p": "p.Pro516Pro",
"transcript": "XM_047425650.1",
"protein_id": "XP_047281606.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 577,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 5833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1548C>T",
"hgvs_p": "p.Pro516Pro",
"transcript": "XM_047425651.1",
"protein_id": "XP_047281607.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 577,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 5889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1533C>T",
"hgvs_p": "p.Pro511Pro",
"transcript": "XM_047425652.1",
"protein_id": "XP_047281608.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 572,
"cds_start": 1533,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 5927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*2081C>T",
"hgvs_p": null,
"transcript": "ENST00000378241.6",
"protein_id": "ENSP00000367487.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.1527C>T",
"hgvs_p": null,
"transcript": "ENST00000378242.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1616C>T",
"hgvs_p": null,
"transcript": "ENST00000489161.2",
"protein_id": "ENSP00000513000.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*887C>T",
"hgvs_p": null,
"transcript": "ENST00000492201.6",
"protein_id": "ENSP00000512999.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1671C>T",
"hgvs_p": null,
"transcript": "ENST00000697074.1",
"protein_id": "ENSP00000513089.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*905C>T",
"hgvs_p": null,
"transcript": "ENST00000697076.1",
"protein_id": "ENSP00000513091.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1604C>T",
"hgvs_p": null,
"transcript": "ENST00000697077.1",
"protein_id": "ENSP00000513092.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1600C>T",
"hgvs_p": null,
"transcript": "ENST00000697078.1",
"protein_id": "ENSP00000513093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.1597C>T",
"hgvs_p": null,
"transcript": "ENST00000697079.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1757C>T",
"hgvs_p": null,
"transcript": "ENST00000697080.1",
"protein_id": "ENSP00000513094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1651C>T",
"hgvs_p": null,
"transcript": "ENST00000697081.1",
"protein_id": "ENSP00000513095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1922C>T",
"hgvs_p": null,
"transcript": "ENST00000697082.1",
"protein_id": "ENSP00000513096.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1698C>T",
"hgvs_p": null,
"transcript": "ENST00000697083.1",
"protein_id": "ENSP00000513097.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1660C>T",
"hgvs_p": null,
"transcript": "ENST00000697085.1",
"protein_id": "ENSP00000513099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.2332C>T",
"hgvs_p": null,
"transcript": "NR_110297.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.2073C>T",
"hgvs_p": null,
"transcript": "NR_146961.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.2380C>T",
"hgvs_p": null,
"transcript": "NR_146962.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*2081C>T",
"hgvs_p": null,
"transcript": "ENST00000378241.6",
"protein_id": "ENSP00000367487.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1616C>T",
"hgvs_p": null,
"transcript": "ENST00000489161.2",
"protein_id": "ENSP00000513000.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*887C>T",
"hgvs_p": null,
"transcript": "ENST00000492201.6",
"protein_id": "ENSP00000512999.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1671C>T",
"hgvs_p": null,
"transcript": "ENST00000697074.1",
"protein_id": "ENSP00000513089.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*905C>T",
"hgvs_p": null,
"transcript": "ENST00000697076.1",
"protein_id": "ENSP00000513091.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1604C>T",
"hgvs_p": null,
"transcript": "ENST00000697077.1",
"protein_id": "ENSP00000513092.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1600C>T",
"hgvs_p": null,
"transcript": "ENST00000697078.1",
"protein_id": "ENSP00000513093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1757C>T",
"hgvs_p": null,
"transcript": "ENST00000697080.1",
"protein_id": "ENSP00000513094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1651C>T",
"hgvs_p": null,
"transcript": "ENST00000697081.1",
"protein_id": "ENSP00000513095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1922C>T",
"hgvs_p": null,
"transcript": "ENST00000697082.1",
"protein_id": "ENSP00000513096.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1698C>T",
"hgvs_p": null,
"transcript": "ENST00000697083.1",
"protein_id": "ENSP00000513097.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1660C>T",
"hgvs_p": null,
"transcript": "ENST00000697085.1",
"protein_id": "ENSP00000513099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.*2726C>T",
"hgvs_p": null,
"transcript": "XM_011519620.4",
"protein_id": "XP_011517922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1782+111C>T",
"hgvs_p": null,
"transcript": "NM_001350965.2",
"protein_id": "NP_001337894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": -4,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1782+111C>T",
"hgvs_p": null,
"transcript": "ENST00000697047.1",
"protein_id": "ENSP00000513066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": -4,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1437+111C>T",
"hgvs_p": null,
"transcript": "NM_001350966.2",
"protein_id": "NP_001337895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "c.1422+111C>T",
"hgvs_p": null,
"transcript": "NM_001350967.2",
"protein_id": "NP_001337896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1343-9282C>T",
"hgvs_p": null,
"transcript": "ENST00000456122.2",
"protein_id": "ENSP00000413180.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1702+111C>T",
"hgvs_p": null,
"transcript": "ENST00000697071.1",
"protein_id": "ENSP00000513086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*794+111C>T",
"hgvs_p": null,
"transcript": "ENST00000697072.1",
"protein_id": "ENSP00000513087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.*1560+111C>T",
"hgvs_p": null,
"transcript": "ENST00000697073.1",
"protein_id": "ENSP00000513088.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"hgvs_c": "n.2149+111C>T",
"hgvs_p": null,
"transcript": "NR_146960.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DCLRE1C",
"gene_hgnc_id": 17642,
"dbsnp": "rs41300676",
"frequency_reference_population": 0.005555528,
"hom_count_reference_population": 32,
"allele_count_reference_population": 8967,
"gnomad_exomes_af": 0.00567699,
"gnomad_genomes_af": 0.0043889,
"gnomad_exomes_ac": 8299,
"gnomad_genomes_ac": 668,
"gnomad_exomes_homalt": 29,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.839,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000378278.7",
"gene_symbol": "DCLRE1C",
"hgnc_id": 17642,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1893C>T",
"hgvs_p": "p.Pro631Pro"
}
],
"clinvar_disease": "Histiocytic medullary reticulosis,Severe combined immunodeficiency due to DCLRE1C deficiency,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:3",
"phenotype_combined": "not specified|Severe combined immunodeficiency due to DCLRE1C deficiency|Histiocytic medullary reticulosis|not provided|Severe combined immunodeficiency due to DCLRE1C deficiency;Histiocytic medullary reticulosis",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}