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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: 1-39883470-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=39883470&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 39883470,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000316891.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "c.22C>G",
"hgvs_p": "p.Arg8Gly",
"transcript": "NM_017646.6",
"protein_id": "NP_060116.2",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 467,
"cds_start": 22,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 5051,
"mane_select": "ENST00000316891.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "c.22C>G",
"hgvs_p": "p.Arg8Gly",
"transcript": "ENST00000316891.10",
"protein_id": "ENSP00000321810.5",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 467,
"cds_start": 22,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 5051,
"mane_select": "NM_017646.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "c.22C>G",
"hgvs_p": "p.Arg8Gly",
"transcript": "ENST00000372818.5",
"protein_id": "ENSP00000361905.1",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 441,
"cds_start": 22,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 37,
"cdna_end": null,
"cdna_length": 2034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "c.22C>G",
"hgvs_p": "p.Arg8Gly",
"transcript": "ENST00000441669.6",
"protein_id": "ENSP00000388333.2",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 385,
"cds_start": 22,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 22,
"cdna_end": null,
"cdna_length": 1851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "n.22C>G",
"hgvs_p": null,
"transcript": "ENST00000462797.5",
"protein_id": "ENSP00000473773.1",
"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": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "n.4C>G",
"hgvs_p": null,
"transcript": "ENST00000486825.6",
"protein_id": "ENSP00000474151.1",
"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": 850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "n.22C>G",
"hgvs_p": null,
"transcript": "ENST00000489945.5",
"protein_id": "ENSP00000473745.1",
"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": 861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "n.10C>G",
"hgvs_p": null,
"transcript": "ENST00000492612.6",
"protein_id": "ENSP00000473708.1",
"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": 983,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "n.22C>G",
"hgvs_p": null,
"transcript": "ENST00000495175.6",
"protein_id": "ENSP00000474264.1",
"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": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "c.22C>G",
"hgvs_p": "p.Arg8Gly",
"transcript": "NM_001312691.1",
"protein_id": "NP_001299620.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 441,
"cds_start": 22,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 42,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "c.22C>G",
"hgvs_p": "p.Arg8Gly",
"transcript": "NM_001312692.1",
"protein_id": "NP_001299621.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 385,
"cds_start": 22,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 42,
"cdna_end": null,
"cdna_length": 1891,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "n.11C>G",
"hgvs_p": null,
"transcript": "ENST00000491865.5",
"protein_id": null,
"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": 738,
"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": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "n.42C>G",
"hgvs_p": null,
"transcript": "NR_132401.1",
"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": 2133,
"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": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "n.42C>G",
"hgvs_p": null,
"transcript": "NR_132402.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "n.42C>G",
"hgvs_p": null,
"transcript": "NR_132403.1",
"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,
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"cdna_length": 1987,
"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": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "n.42C>G",
"hgvs_p": null,
"transcript": "NR_132404.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "n.42C>G",
"hgvs_p": null,
"transcript": "NR_132405.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1983,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "n.42C>G",
"hgvs_p": null,
"transcript": "NR_132406.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1874,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "n.42C>G",
"hgvs_p": null,
"transcript": "NR_132407.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "n.42C>G",
"hgvs_p": null,
"transcript": "NR_132408.1",
"protein_id": null,
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"aa_length": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "n.42C>G",
"hgvs_p": null,
"transcript": "NR_132409.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "n.42C>G",
"hgvs_p": null,
"transcript": "NR_132410.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1634,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "n.42C>G",
"hgvs_p": null,
"transcript": "NR_132412.1",
"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,
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"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 1,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "TRIT1",
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"transcript": "NR_132413.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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"cdna_end": null,
"cdna_length": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "TRIT1",
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"transcript": "NR_132414.1",
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "TRIT1",
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"hgvs_c": "n.42C>G",
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"transcript": "NR_132415.1",
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"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": 2224,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"hgvs_c": "c.-778C>G",
"hgvs_p": null,
"transcript": "ENST00000537440.5",
"protein_id": "ENSP00000437700.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": -4,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
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"cdna_length": 2026,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCL-AS1",
"gene_hgnc_id": 40386,
"hgvs_c": "n.325+286G>C",
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"transcript": "ENST00000418255.2",
"protein_id": null,
"transcript_support_level": 2,
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"cds_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCL-AS1",
"gene_hgnc_id": 40386,
"hgvs_c": "n.303+49G>C",
"hgvs_p": null,
"transcript": "ENST00000837551.1",
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCL-AS1",
"gene_hgnc_id": 40386,
"hgvs_c": "n.272+49G>C",
"hgvs_p": null,
"transcript": "NR_183424.1",
"protein_id": null,
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"aa_length": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "MYCL-AS1",
"gene_hgnc_id": 40386,
"hgvs_c": "n.35+286G>C",
"hgvs_p": null,
"transcript": "NR_183425.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "TRIT1",
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"hgvs_c": "c.-293C>G",
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"transcript": "ENST00000541099.5",
"protein_id": "ENSP00000437896.1",
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"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"gene_symbol": "TRIT1",
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"hgvs_c": "n.-45C>G",
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"transcript": "ENST00000648678.1",
"protein_id": "ENSP00000497805.1",
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 5930,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "TRIT1",
"gene_hgnc_id": 20286,
"dbsnp": "rs184469579",
"frequency_reference_population": 0.000006892645,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000692648,
"gnomad_genomes_af": 0.0000065716,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20355093479156494,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
"alphamissense_score": 0.0966,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.669,
"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": 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": "ENST00000316891.10",
"gene_symbol": "TRIT1",
"hgnc_id": 20286,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.22C>G",
"hgvs_p": "p.Arg8Gly"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000418255.2",
"gene_symbol": "MYCL-AS1",
"hgnc_id": 40386,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.325+286G>C",
"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
}