← 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: 3-15642042-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15642042&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 15642042,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000643237.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001370658.1",
"protein_id": "NP_001357587.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 9964,
"mane_select": "ENST00000643237.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000643237.3",
"protein_id": "ENSP00000495254.2",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 9964,
"mane_select": "NM_001370658.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000303498.10",
"protein_id": "ENSP00000306477.6",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001281723.4",
"protein_id": "NP_001268652.2",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 9840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001281724.3",
"protein_id": "NP_001268653.2",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 10152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001281725.3",
"protein_id": "NP_001268654.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 10122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001323582.2",
"protein_id": "NP_001310511.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 10240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407364.1",
"protein_id": "NP_001394293.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 9928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407365.1",
"protein_id": "NP_001394294.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 10101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407366.1",
"protein_id": "NP_001394295.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 10529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407367.1",
"protein_id": "NP_001394296.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 10116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407368.1",
"protein_id": "NP_001394297.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 10499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407369.1",
"protein_id": "NP_001394298.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 10515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407370.1",
"protein_id": "NP_001394299.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 10392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407371.1",
"protein_id": "NP_001394300.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 10566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407372.1",
"protein_id": "NP_001394301.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 10121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407373.1",
"protein_id": "NP_001394302.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 10083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407374.1",
"protein_id": "NP_001394303.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 10138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407375.1",
"protein_id": "NP_001394304.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 10517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407376.1",
"protein_id": "NP_001394305.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 10586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407377.1",
"protein_id": "NP_001394306.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 10398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407378.1",
"protein_id": "NP_001394307.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 10341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000427382.2",
"protein_id": "ENSP00000397113.2",
"transcript_support_level": 4,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000436193.6",
"protein_id": "ENSP00000394277.2",
"transcript_support_level": 2,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000437172.6",
"protein_id": "ENSP00000400995.2",
"transcript_support_level": 2,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 2097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000449107.7",
"protein_id": "ENSP00000388212.2",
"transcript_support_level": 2,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000646371.1",
"protein_id": "ENSP00000495866.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 523,
"cds_start": 384,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001370752.1",
"protein_id": "NP_001357681.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 364,
"cds_start": 384,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407379.1",
"protein_id": "NP_001394308.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 364,
"cds_start": 384,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 1804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000672427.1",
"protein_id": "ENSP00000500131.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 364,
"cds_start": 384,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 1709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000672892.2",
"protein_id": "ENSP00000499944.2",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 344,
"cds_start": 384,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 1847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407380.1",
"protein_id": "NP_001394309.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 203,
"cds_start": 384,
"cds_end": null,
"cds_length": 612,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 1164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000673467.1",
"protein_id": "ENSP00000500288.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 203,
"cds_start": 384,
"cds_end": null,
"cds_length": 612,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 1116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.447C>A",
"hgvs_p": "p.Arg149Arg",
"transcript": "NM_001407381.1",
"protein_id": "NP_001394310.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 180,
"cds_start": 447,
"cds_end": null,
"cds_length": 543,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 1042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001281726.3",
"protein_id": "NP_001268655.2",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 159,
"cds_start": 384,
"cds_end": null,
"cds_length": 480,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407382.1",
"protein_id": "NP_001394311.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 159,
"cds_start": 384,
"cds_end": null,
"cds_length": 480,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407383.1",
"protein_id": "NP_001394312.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 159,
"cds_start": 384,
"cds_end": null,
"cds_length": 480,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407384.1",
"protein_id": "NP_001394313.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 159,
"cds_start": 384,
"cds_end": null,
"cds_length": 480,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 1097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407386.1",
"protein_id": "NP_001394315.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 159,
"cds_start": 384,
"cds_end": null,
"cds_length": 480,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407388.1",
"protein_id": "NP_001394317.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 159,
"cds_start": 384,
"cds_end": null,
"cds_length": 480,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407390.1",
"protein_id": "NP_001394319.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 159,
"cds_start": 384,
"cds_end": null,
"cds_length": 480,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407392.1",
"protein_id": "NP_001394321.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 159,
"cds_start": 384,
"cds_end": null,
"cds_length": 480,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407394.1",
"protein_id": "NP_001394323.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 159,
"cds_start": 384,
"cds_end": null,
"cds_length": 480,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407395.1",
"protein_id": "NP_001394324.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 159,
"cds_start": 384,
"cds_end": null,
"cds_length": 480,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407396.1",
"protein_id": "NP_001394325.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 159,
"cds_start": 384,
"cds_end": null,
"cds_length": 480,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 1092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407397.1",
"protein_id": "NP_001394326.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 159,
"cds_start": 384,
"cds_end": null,
"cds_length": 480,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 1255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000417015.3",
"protein_id": "ENSP00000403775.3",
"transcript_support_level": 2,
"aa_start": 128,
"aa_end": null,
"aa_length": 159,
"cds_start": 384,
"cds_end": null,
"cds_length": 480,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000482824.3",
"protein_id": "ENSP00000494864.1",
"transcript_support_level": 2,
"aa_start": 128,
"aa_end": null,
"aa_length": 159,
"cds_start": 384,
"cds_end": null,
"cds_length": 480,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000672336.1",
"protein_id": "ENSP00000500267.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 159,
"cds_start": 384,
"cds_end": null,
"cds_length": 480,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000713694.1",
"protein_id": "ENSP00000518998.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 159,
"cds_start": 384,
"cds_end": null,
"cds_length": 480,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000713695.1",
"protein_id": "ENSP00000518999.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 159,
"cds_start": 384,
"cds_end": null,
"cds_length": 480,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407398.1",
"protein_id": "NP_001394327.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 152,
"cds_start": 384,
"cds_end": null,
"cds_length": 459,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407399.1",
"protein_id": "NP_001394328.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 152,
"cds_start": 384,
"cds_end": null,
"cds_length": 459,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000671928.2",
"protein_id": "ENSP00000500069.2",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 152,
"cds_start": 384,
"cds_end": null,
"cds_length": 459,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 1333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407400.1",
"protein_id": "NP_001394329.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 144,
"cds_start": 384,
"cds_end": null,
"cds_length": 435,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001370753.1",
"protein_id": "NP_001357682.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 141,
"cds_start": 384,
"cds_end": null,
"cds_length": 426,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 2943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000672760.1",
"protein_id": "ENSP00000500530.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 141,
"cds_start": 384,
"cds_end": null,
"cds_length": 426,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001407401.1",
"protein_id": "NP_001394330.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 140,
"cds_start": 384,
"cds_end": null,
"cds_length": 423,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000673620.1",
"protein_id": "ENSP00000500325.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 140,
"cds_start": 384,
"cds_end": null,
"cds_length": 423,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000672141.1",
"protein_id": "ENSP00000500210.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 137,
"cds_start": 384,
"cds_end": null,
"cds_length": 414,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "n.1223C>A",
"hgvs_p": null,
"transcript": "ENST00000467027.6",
"protein_id": null,
"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": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "n.*468C>A",
"hgvs_p": null,
"transcript": "ENST00000713693.1",
"protein_id": "ENSP00000518997.1",
"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": 1350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "n.*468C>A",
"hgvs_p": null,
"transcript": "ENST00000713693.1",
"protein_id": "ENSP00000518997.1",
"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": 1350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"dbsnp": "rs397514358",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"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": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.369,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000643237.3",
"gene_symbol": "BTD",
"hgnc_id": 1122,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Arg128Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}