← 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: 6-123271146-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=123271146&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TRDN",
"hgnc_id": 12261,
"hgvs_c": "c.1713A>C",
"hgvs_p": "p.Glu571Asp",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_006073.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_score": -9,
"allele_count_reference_population": 350,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1624,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "6",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.008672982454299927,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 729,
"aa_ref": "E",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 1888,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1713,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_006073.4",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1713A>C",
"hgvs_p": "p.Glu571Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334268.9",
"protein_coding": true,
"protein_id": "NP_006064.2",
"strand": false,
"transcript": "NM_006073.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 729,
"aa_ref": "E",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 1888,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1713,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000334268.9",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1713A>C",
"hgvs_p": "p.Glu571Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006073.4",
"protein_coding": true,
"protein_id": "ENSP00000333984.5",
"strand": false,
"transcript": "ENST00000334268.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 730,
"aa_ref": "E",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4683,
"cdna_start": 1946,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1716,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000962661.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1716A>C",
"hgvs_p": "p.Glu572Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632720.1",
"strand": false,
"transcript": "ENST00000962661.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 729,
"aa_ref": "E",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4889,
"cdna_start": 1963,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1713,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000962654.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1713A>C",
"hgvs_p": "p.Glu571Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632713.1",
"strand": false,
"transcript": "ENST00000962654.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 729,
"aa_ref": "E",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4713,
"cdna_start": 1977,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1713,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000962655.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1713A>C",
"hgvs_p": "p.Glu571Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632714.1",
"strand": false,
"transcript": "ENST00000962655.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 729,
"aa_ref": "E",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4680,
"cdna_start": 1946,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1716,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000962660.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1716A>C",
"hgvs_p": "p.Glu572Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632719.1",
"strand": false,
"transcript": "ENST00000962660.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 729,
"aa_ref": "E",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4676,
"cdna_start": 1943,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1716,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000962662.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1716A>C",
"hgvs_p": "p.Glu572Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632721.1",
"strand": false,
"transcript": "ENST00000962662.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 728,
"aa_ref": "E",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4978,
"cdna_start": 2195,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1710,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000962653.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1710A>C",
"hgvs_p": "p.Glu570Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632712.1",
"strand": false,
"transcript": "ENST00000962653.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 728,
"aa_ref": "E",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4705,
"cdna_start": 1968,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1710,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000962656.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1710A>C",
"hgvs_p": "p.Glu570Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632715.1",
"strand": false,
"transcript": "ENST00000962656.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 728,
"aa_ref": "E",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4661,
"cdna_start": 1924,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1710,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000962663.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1710A>C",
"hgvs_p": "p.Glu570Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632722.1",
"strand": false,
"transcript": "ENST00000962663.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 728,
"aa_ref": "E",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4660,
"cdna_start": 1926,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1713,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000962664.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1713A>C",
"hgvs_p": "p.Glu571Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632723.1",
"strand": false,
"transcript": "ENST00000962664.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 727,
"aa_ref": "E",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4675,
"cdna_start": 1938,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1707,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000962659.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1707A>C",
"hgvs_p": "p.Glu569Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632718.1",
"strand": false,
"transcript": "ENST00000962659.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 727,
"aa_ref": "E",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3679,
"cdna_start": 1973,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1710,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000962682.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1710A>C",
"hgvs_p": "p.Glu570Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632741.1",
"strand": false,
"transcript": "ENST00000962682.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 726,
"aa_ref": "E",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4569,
"cdna_start": 1900,
"cds_end": null,
"cds_length": 2181,
"cds_start": 1704,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000962678.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1704A>C",
"hgvs_p": "p.Glu568Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632737.1",
"strand": false,
"transcript": "ENST00000962678.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 725,
"aa_ref": "E",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4602,
"cdna_start": 1931,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1701,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000962674.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1701A>C",
"hgvs_p": "p.Glu567Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632733.1",
"strand": false,
"transcript": "ENST00000962674.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 719,
"aa_ref": "E",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4678,
"cdna_start": 1942,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1683,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000962657.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1683A>C",
"hgvs_p": "p.Glu561Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632716.1",
"strand": false,
"transcript": "ENST00000962657.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 719,
"aa_ref": "E",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4616,
"cdna_start": 1879,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1683,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000962666.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1683A>C",
"hgvs_p": "p.Glu561Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632725.1",
"strand": false,
"transcript": "ENST00000962666.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 719,
"aa_ref": "E",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4602,
"cdna_start": 1866,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1683,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000962671.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1683A>C",
"hgvs_p": "p.Glu561Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632730.1",
"strand": false,
"transcript": "ENST00000962671.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 718,
"aa_ref": "E",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4594,
"cdna_start": 1857,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1680,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000962673.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1680A>C",
"hgvs_p": "p.Glu560Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632732.1",
"strand": false,
"transcript": "ENST00000962673.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 718,
"aa_ref": "E",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4562,
"cdna_start": 1896,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1683,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000962676.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1683A>C",
"hgvs_p": "p.Glu561Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632735.1",
"strand": false,
"transcript": "ENST00000962676.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 717,
"aa_ref": "E",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5880,
"cdna_start": 1926,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1713,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000962652.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1713A>C",
"hgvs_p": "p.Glu571Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632711.1",
"strand": false,
"transcript": "ENST00000962652.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 717,
"aa_ref": "E",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4598,
"cdna_start": 1898,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1713,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000962670.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1713A>C",
"hgvs_p": "p.Glu571Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632729.1",
"strand": false,
"transcript": "ENST00000962670.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 716,
"aa_ref": "E",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4561,
"cdna_start": 1863,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1710,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000962675.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1710A>C",
"hgvs_p": "p.Glu570Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632734.1",
"strand": false,
"transcript": "ENST00000962675.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 716,
"aa_ref": "E",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4542,
"cdna_start": 1910,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1713,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000962677.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1713A>C",
"hgvs_p": "p.Glu571Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632736.1",
"strand": false,
"transcript": "ENST00000962677.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 708,
"aa_ref": "E",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4599,
"cdna_start": 1898,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1686,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000962665.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1686A>C",
"hgvs_p": "p.Glu562Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632724.1",
"strand": false,
"transcript": "ENST00000962665.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 708,
"aa_ref": "E",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4565,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1650,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000962672.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1650A>C",
"hgvs_p": "p.Glu550Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632731.1",
"strand": false,
"transcript": "ENST00000962672.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 704,
"aa_ref": "E",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4564,
"cdna_start": 1863,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1674,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000962668.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1674A>C",
"hgvs_p": "p.Glu558Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632727.1",
"strand": false,
"transcript": "ENST00000962668.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 699,
"aa_ref": "E",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4480,
"cdna_start": 1812,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1623,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000962679.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1623A>C",
"hgvs_p": "p.Glu541Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632738.1",
"strand": false,
"transcript": "ENST00000962679.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 682,
"aa_ref": "E",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4541,
"cdna_start": 1821,
"cds_end": null,
"cds_length": 2049,
"cds_start": 1635,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000962658.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1635A>C",
"hgvs_p": "p.Glu545Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632717.1",
"strand": false,
"transcript": "ENST00000962658.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 657,
"aa_ref": "E",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4422,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 1974,
"cds_start": 1497,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000962669.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1497A>C",
"hgvs_p": "p.Glu499Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632728.1",
"strand": false,
"transcript": "ENST00000962669.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 635,
"aa_ref": "E",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4363,
"cdna_start": 1685,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1488,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000962667.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1488A>C",
"hgvs_p": "p.Glu496Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632726.1",
"strand": false,
"transcript": "ENST00000962667.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 700,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4396,
"cdna_start": null,
"cds_end": null,
"cds_length": 2103,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962681.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1670-1280A>C",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632740.1",
"strand": false,
"transcript": "ENST00000962681.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 699,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4458,
"cdna_start": null,
"cds_end": null,
"cds_length": 2100,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962680.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.1670-1280A>C",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632739.1",
"strand": false,
"transcript": "ENST00000962680.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs201115952",
"effect": "missense_variant",
"frequency_reference_population": 0.00022804244,
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"gnomad_exomes_ac": 154,
"gnomad_exomes_af": 0.000111375,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 196,
"gnomad_genomes_af": 0.00128869,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Cardiovascular phenotype|not provided|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia 5|not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.326,
"pos": 123271146,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.087,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_006073.4"
}
]
}