← 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: 12-6385074-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6385074&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6385074,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001414303.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr",
"transcript": "NM_002342.3",
"protein_id": "NP_002333.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 435,
"cds_start": 246,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000228918.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002342.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr",
"transcript": "ENST00000228918.9",
"protein_id": "ENSP00000228918.4",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 435,
"cds_start": 246,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002342.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228918.9"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr",
"transcript": "NM_001414303.1",
"protein_id": "NP_001401232.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 487,
"cds_start": 246,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414303.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr",
"transcript": "ENST00000884044.1",
"protein_id": "ENSP00000554103.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 487,
"cds_start": 246,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884044.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.327A>G",
"hgvs_p": "p.Thr109Thr",
"transcript": "NM_001414304.1",
"protein_id": "NP_001401233.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 462,
"cds_start": 327,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414304.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.327A>G",
"hgvs_p": "p.Thr109Thr",
"transcript": "ENST00000957634.1",
"protein_id": "ENSP00000627693.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 462,
"cds_start": 327,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957634.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr",
"transcript": "NM_001414305.1",
"protein_id": "NP_001401234.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 455,
"cds_start": 246,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414305.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr",
"transcript": "ENST00000957632.1",
"protein_id": "ENSP00000627691.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 455,
"cds_start": 246,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957632.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr",
"transcript": "NM_001414306.1",
"protein_id": "NP_001401235.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 449,
"cds_start": 246,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414306.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr",
"transcript": "ENST00000884046.1",
"protein_id": "ENSP00000554105.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 449,
"cds_start": 246,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884046.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr",
"transcript": "NM_001414307.1",
"protein_id": "NP_001401236.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 433,
"cds_start": 246,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414307.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr",
"transcript": "ENST00000884047.1",
"protein_id": "ENSP00000554106.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 433,
"cds_start": 246,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884047.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.231A>G",
"hgvs_p": "p.Thr77Thr",
"transcript": "NM_001414308.1",
"protein_id": "NP_001401237.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 430,
"cds_start": 231,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414308.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.231A>G",
"hgvs_p": "p.Thr77Thr",
"transcript": "ENST00000884045.1",
"protein_id": "ENSP00000554104.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 430,
"cds_start": 231,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884045.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Thr63Thr",
"transcript": "NM_001270987.2",
"protein_id": "NP_001257916.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 416,
"cds_start": 189,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270987.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Thr63Thr",
"transcript": "ENST00000539925.5",
"protein_id": "ENSP00000440875.1",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 416,
"cds_start": 189,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539925.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Thr63Thr",
"transcript": "NM_001414309.1",
"protein_id": "NP_001401238.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 414,
"cds_start": 189,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414309.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr",
"transcript": "ENST00000957633.1",
"protein_id": "ENSP00000627692.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 413,
"cds_start": 246,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957633.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr",
"transcript": "ENST00000957630.1",
"protein_id": "ENSP00000627689.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 406,
"cds_start": 246,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957630.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr",
"transcript": "NM_001414310.1",
"protein_id": "NP_001401239.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 399,
"cds_start": 246,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414310.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr",
"transcript": "ENST00000957635.1",
"protein_id": "ENSP00000627694.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 370,
"cds_start": 246,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957635.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr",
"transcript": "NM_001414311.1",
"protein_id": "NP_001401240.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 350,
"cds_start": 246,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414311.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr",
"transcript": "ENST00000957629.1",
"protein_id": "ENSP00000627688.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 350,
"cds_start": 246,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957629.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.231A>G",
"hgvs_p": "p.Thr77Thr",
"transcript": "ENST00000957631.1",
"protein_id": "ENSP00000627690.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 345,
"cds_start": 231,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957631.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr",
"transcript": "ENST00000957636.1",
"protein_id": "ENSP00000627695.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 314,
"cds_start": 246,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957636.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr",
"transcript": "NM_001414312.1",
"protein_id": "NP_001401241.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 278,
"cds_start": 246,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414312.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.231A>G",
"hgvs_p": "p.Thr77Thr",
"transcript": "ENST00000536876.5",
"protein_id": "ENSP00000437647.1",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 216,
"cds_start": 231,
"cds_end": null,
"cds_length": 653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536876.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.-76A>G",
"hgvs_p": null,
"transcript": "ENST00000543190.5",
"protein_id": "ENSP00000438955.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 74,
"cds_start": null,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543190.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "n.429A>G",
"hgvs_p": null,
"transcript": "ENST00000535739.5",
"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": "ENST00000535739.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "n.415A>G",
"hgvs_p": null,
"transcript": "ENST00000542830.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000542830.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "n.77A>G",
"hgvs_p": null,
"transcript": "ENST00000545445.1",
"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": "ENST00000545445.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "n.700A>G",
"hgvs_p": null,
"transcript": "ENST00000546296.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000546296.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "n.443A>G",
"hgvs_p": null,
"transcript": "NR_182270.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_182270.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "n.443A>G",
"hgvs_p": null,
"transcript": "NR_182271.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_182271.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "n.443A>G",
"hgvs_p": null,
"transcript": "NR_182272.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_182272.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "n.443A>G",
"hgvs_p": null,
"transcript": "NR_182273.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_182273.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.-76A>G",
"hgvs_p": null,
"transcript": "ENST00000541102.1",
"protein_id": "ENSP00000438605.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541102.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "n.-76A>G",
"hgvs_p": null,
"transcript": "ENST00000544454.5",
"protein_id": "ENSP00000437954.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000544454.5"
}
],
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"dbsnp": "rs41480749",
"frequency_reference_population": 0.010381446,
"hom_count_reference_population": 98,
"allele_count_reference_population": 16758,
"gnomad_exomes_af": 0.0107129,
"gnomad_genomes_af": 0.00720109,
"gnomad_exomes_ac": 15661,
"gnomad_genomes_ac": 1097,
"gnomad_exomes_homalt": 92,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.206,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001414303.1",
"gene_symbol": "LTBR",
"hgnc_id": 6718,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Thr82Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}