← 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: 6-123218604-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=123218604&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 123218604,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006073.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2187G>T",
"hgvs_p": "p.Gln729His",
"transcript": "NM_006073.4",
"protein_id": "NP_006064.2",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 729,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334268.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006073.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2187G>T",
"hgvs_p": "p.Gln729His",
"transcript": "ENST00000334268.9",
"protein_id": "ENSP00000333984.5",
"transcript_support_level": 1,
"aa_start": 729,
"aa_end": null,
"aa_length": 729,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006073.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334268.9"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2190G>T",
"hgvs_p": "p.Gln730His",
"transcript": "ENST00000962661.1",
"protein_id": "ENSP00000632720.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 730,
"cds_start": 2190,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962661.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2187G>T",
"hgvs_p": "p.Gln729His",
"transcript": "ENST00000962654.1",
"protein_id": "ENSP00000632713.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 729,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962654.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2187G>T",
"hgvs_p": "p.Gln729His",
"transcript": "ENST00000962655.1",
"protein_id": "ENSP00000632714.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 729,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962655.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2187G>T",
"hgvs_p": "p.Gln729His",
"transcript": "ENST00000962660.1",
"protein_id": "ENSP00000632719.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 729,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962660.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2187G>T",
"hgvs_p": "p.Gln729His",
"transcript": "ENST00000962662.1",
"protein_id": "ENSP00000632721.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 729,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962662.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2184G>T",
"hgvs_p": "p.Gln728His",
"transcript": "ENST00000962653.1",
"protein_id": "ENSP00000632712.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 728,
"cds_start": 2184,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962653.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2184G>T",
"hgvs_p": "p.Gln728His",
"transcript": "ENST00000962656.1",
"protein_id": "ENSP00000632715.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 728,
"cds_start": 2184,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962656.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2184G>T",
"hgvs_p": "p.Gln728His",
"transcript": "ENST00000962663.1",
"protein_id": "ENSP00000632722.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 728,
"cds_start": 2184,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962663.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2184G>T",
"hgvs_p": "p.Gln728His",
"transcript": "ENST00000962664.1",
"protein_id": "ENSP00000632723.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 728,
"cds_start": 2184,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962664.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2181G>T",
"hgvs_p": "p.Gln727His",
"transcript": "ENST00000962659.1",
"protein_id": "ENSP00000632718.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 727,
"cds_start": 2181,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962659.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2181G>T",
"hgvs_p": "p.Gln727His",
"transcript": "ENST00000962682.1",
"protein_id": "ENSP00000632741.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 727,
"cds_start": 2181,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962682.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2178G>T",
"hgvs_p": "p.Gln726His",
"transcript": "ENST00000962678.1",
"protein_id": "ENSP00000632737.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 726,
"cds_start": 2178,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962678.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2175G>T",
"hgvs_p": "p.Gln725His",
"transcript": "ENST00000962674.1",
"protein_id": "ENSP00000632733.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 725,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962674.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2157G>T",
"hgvs_p": "p.Gln719His",
"transcript": "ENST00000962657.1",
"protein_id": "ENSP00000632716.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 719,
"cds_start": 2157,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962657.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2157G>T",
"hgvs_p": "p.Gln719His",
"transcript": "ENST00000962666.1",
"protein_id": "ENSP00000632725.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 719,
"cds_start": 2157,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962666.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2157G>T",
"hgvs_p": "p.Gln719His",
"transcript": "ENST00000962671.1",
"protein_id": "ENSP00000632730.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 719,
"cds_start": 2157,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962671.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2154G>T",
"hgvs_p": "p.Gln718His",
"transcript": "ENST00000962673.1",
"protein_id": "ENSP00000632732.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962673.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2154G>T",
"hgvs_p": "p.Gln718His",
"transcript": "ENST00000962676.1",
"protein_id": "ENSP00000632735.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 718,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962676.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2151G>T",
"hgvs_p": "p.Gln717His",
"transcript": "ENST00000962652.1",
"protein_id": "ENSP00000632711.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 717,
"cds_start": 2151,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962652.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2151G>T",
"hgvs_p": "p.Gln717His",
"transcript": "ENST00000962670.1",
"protein_id": "ENSP00000632729.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 717,
"cds_start": 2151,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962670.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2148G>T",
"hgvs_p": "p.Gln716His",
"transcript": "ENST00000962675.1",
"protein_id": "ENSP00000632734.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 716,
"cds_start": 2148,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962675.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2148G>T",
"hgvs_p": "p.Gln716His",
"transcript": "ENST00000962677.1",
"protein_id": "ENSP00000632736.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 716,
"cds_start": 2148,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962677.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2124G>T",
"hgvs_p": "p.Gln708His",
"transcript": "ENST00000962665.1",
"protein_id": "ENSP00000632724.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 708,
"cds_start": 2124,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962665.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2124G>T",
"hgvs_p": "p.Gln708His",
"transcript": "ENST00000962672.1",
"protein_id": "ENSP00000632731.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 708,
"cds_start": 2124,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962672.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2112G>T",
"hgvs_p": "p.Gln704His",
"transcript": "ENST00000962668.1",
"protein_id": "ENSP00000632727.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 704,
"cds_start": 2112,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962668.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2100G>T",
"hgvs_p": "p.Gln700His",
"transcript": "ENST00000962681.1",
"protein_id": "ENSP00000632740.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 700,
"cds_start": 2100,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962681.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2097G>T",
"hgvs_p": "p.Gln699His",
"transcript": "ENST00000962679.1",
"protein_id": "ENSP00000632738.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 699,
"cds_start": 2097,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962679.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2097G>T",
"hgvs_p": "p.Gln699His",
"transcript": "ENST00000962680.1",
"protein_id": "ENSP00000632739.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 699,
"cds_start": 2097,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962680.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.2046G>T",
"hgvs_p": "p.Gln682His",
"transcript": "ENST00000962658.1",
"protein_id": "ENSP00000632717.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 682,
"cds_start": 2046,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962658.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1971G>T",
"hgvs_p": "p.Gln657His",
"transcript": "ENST00000962669.1",
"protein_id": "ENSP00000632728.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 657,
"cds_start": 1971,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962669.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.1905G>T",
"hgvs_p": "p.Gln635His",
"transcript": "ENST00000962667.1",
"protein_id": "ENSP00000632726.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 635,
"cds_start": 1905,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962667.1"
}
],
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"dbsnp": "rs373439044",
"frequency_reference_population": 0.00004531229,
"hom_count_reference_population": 0,
"allele_count_reference_population": 73,
"gnomad_exomes_af": 0.0000267281,
"gnomad_genomes_af": 0.000223829,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 34,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03874450922012329,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.116,
"revel_prediction": "Benign",
"alphamissense_score": 0.1795,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.521,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_006073.4",
"gene_symbol": "TRDN",
"hgnc_id": 12261,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2187G>T",
"hgvs_p": "p.Gln729His"
}
],
"clinvar_disease": "Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}