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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: 1-11108186-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11108186&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11108186,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_004958.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7629T>C",
"hgvs_p": "p.Ile2543Ile",
"transcript": "NM_004958.4",
"protein_id": "NP_004949.1",
"transcript_support_level": null,
"aa_start": 2543,
"aa_end": null,
"aa_length": 2549,
"cds_start": 7629,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361445.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004958.4"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7629T>C",
"hgvs_p": "p.Ile2543Ile",
"transcript": "ENST00000361445.9",
"protein_id": "ENSP00000354558.4",
"transcript_support_level": 1,
"aa_start": 2543,
"aa_end": null,
"aa_length": 2549,
"cds_start": 7629,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004958.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361445.9"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7683T>C",
"hgvs_p": "p.Ile2561Ile",
"transcript": "ENST00000934315.1",
"protein_id": "ENSP00000604374.1",
"transcript_support_level": null,
"aa_start": 2561,
"aa_end": null,
"aa_length": 2567,
"cds_start": 7683,
"cds_end": null,
"cds_length": 7704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934315.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7650T>C",
"hgvs_p": "p.Ile2550Ile",
"transcript": "ENST00000934312.1",
"protein_id": "ENSP00000604371.1",
"transcript_support_level": null,
"aa_start": 2550,
"aa_end": null,
"aa_length": 2556,
"cds_start": 7650,
"cds_end": null,
"cds_length": 7671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934312.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7629T>C",
"hgvs_p": "p.Ile2543Ile",
"transcript": "NM_001386500.1",
"protein_id": "NP_001373429.1",
"transcript_support_level": null,
"aa_start": 2543,
"aa_end": null,
"aa_length": 2549,
"cds_start": 7629,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386500.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7629T>C",
"hgvs_p": "p.Ile2543Ile",
"transcript": "ENST00000703143.2",
"protein_id": "ENSP00000515200.2",
"transcript_support_level": null,
"aa_start": 2543,
"aa_end": null,
"aa_length": 2549,
"cds_start": 7629,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703143.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7629T>C",
"hgvs_p": "p.Ile2543Ile",
"transcript": "ENST00000934310.1",
"protein_id": "ENSP00000604369.1",
"transcript_support_level": null,
"aa_start": 2543,
"aa_end": null,
"aa_length": 2549,
"cds_start": 7629,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934310.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7629T>C",
"hgvs_p": "p.Ile2543Ile",
"transcript": "ENST00000934314.1",
"protein_id": "ENSP00000604373.1",
"transcript_support_level": null,
"aa_start": 2543,
"aa_end": null,
"aa_length": 2549,
"cds_start": 7629,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934314.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7620T>C",
"hgvs_p": "p.Ile2540Ile",
"transcript": "ENST00000875524.1",
"protein_id": "ENSP00000545583.1",
"transcript_support_level": null,
"aa_start": 2540,
"aa_end": null,
"aa_length": 2546,
"cds_start": 7620,
"cds_end": null,
"cds_length": 7641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875524.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7593T>C",
"hgvs_p": "p.Ile2531Ile",
"transcript": "ENST00000875525.1",
"protein_id": "ENSP00000545584.1",
"transcript_support_level": null,
"aa_start": 2531,
"aa_end": null,
"aa_length": 2537,
"cds_start": 7593,
"cds_end": null,
"cds_length": 7614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875525.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7542T>C",
"hgvs_p": "p.Ile2514Ile",
"transcript": "ENST00000934311.1",
"protein_id": "ENSP00000604370.1",
"transcript_support_level": null,
"aa_start": 2514,
"aa_end": null,
"aa_length": 2520,
"cds_start": 7542,
"cds_end": null,
"cds_length": 7563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934311.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7416T>C",
"hgvs_p": "p.Ile2472Ile",
"transcript": "ENST00000703140.1",
"protein_id": "ENSP00000515197.1",
"transcript_support_level": null,
"aa_start": 2472,
"aa_end": null,
"aa_length": 2478,
"cds_start": 7416,
"cds_end": null,
"cds_length": 7437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703140.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7413T>C",
"hgvs_p": "p.Ile2471Ile",
"transcript": "ENST00000934313.1",
"protein_id": "ENSP00000604372.1",
"transcript_support_level": null,
"aa_start": 2471,
"aa_end": null,
"aa_length": 2477,
"cds_start": 7413,
"cds_end": null,
"cds_length": 7434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934313.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.6381T>C",
"hgvs_p": "p.Ile2127Ile",
"transcript": "NM_001386501.1",
"protein_id": "NP_001373430.1",
"transcript_support_level": null,
"aa_start": 2127,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6381,
"cds_end": null,
"cds_length": 6402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386501.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.6948T>C",
"hgvs_p": "p.Ile2316Ile",
"transcript": "XM_017000900.1",
"protein_id": "XP_016856389.1",
"transcript_support_level": null,
"aa_start": 2316,
"aa_end": null,
"aa_length": 2322,
"cds_start": 6948,
"cds_end": null,
"cds_length": 6969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000900.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.5364T>C",
"hgvs_p": "p.Ile1788Ile",
"transcript": "XM_047416724.1",
"protein_id": "XP_047272680.1",
"transcript_support_level": null,
"aa_start": 1788,
"aa_end": null,
"aa_length": 1794,
"cds_start": 5364,
"cds_end": null,
"cds_length": 5385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416724.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.3046T>C",
"hgvs_p": null,
"transcript": "ENST00000376838.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000376838.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.641T>C",
"hgvs_p": null,
"transcript": "ENST00000473471.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473471.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.912T>C",
"hgvs_p": null,
"transcript": "ENST00000490931.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490931.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.*3004T>C",
"hgvs_p": null,
"transcript": "ENST00000703118.1",
"protein_id": "ENSP00000515181.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703118.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.3547T>C",
"hgvs_p": null,
"transcript": "ENST00000703131.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000703131.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.*685T>C",
"hgvs_p": null,
"transcript": "ENST00000703139.2",
"protein_id": "ENSP00000515196.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703139.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 56,
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"exon_count": 57,
"intron_rank": null,
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"gene_symbol": "MTOR",
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"transcript": "ENST00000703141.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703141.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.*4459T>C",
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"transcript": "ENST00000703142.1",
"protein_id": "ENSP00000515199.1",
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"aa_end": null,
"aa_length": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703142.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.*3004T>C",
"hgvs_p": null,
"transcript": "ENST00000703118.1",
"protein_id": "ENSP00000515181.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703118.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.*685T>C",
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"transcript": "ENST00000703139.2",
"protein_id": "ENSP00000515196.2",
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"cds_end": null,
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"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703139.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.*3146T>C",
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"transcript": "ENST00000703141.1",
"protein_id": "ENSP00000515198.1",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703141.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.*4459T>C",
"hgvs_p": null,
"transcript": "ENST00000703142.1",
"protein_id": "ENSP00000515199.1",
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"aa_end": null,
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703142.1"
}
],
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"dbsnp": null,
"frequency_reference_population": 0.0000013687811,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136878,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.49000000953674316,
"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": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.528,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7,BS1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 11,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_004958.4",
"gene_symbol": "MTOR",
"hgnc_id": 3942,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7629T>C",
"hgvs_p": "p.Ile2543Ile"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}