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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 6-123503893-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=123503893&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 123503893,
"ref": "TC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_006073.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "NM_006073.4",
"protein_id": "NP_006064.2",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 729,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000334268.9",
"protein_id": "ENSP00000333984.5",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 729,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000628709.2",
"protein_id": "ENSP00000486095.1",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 297,
"cds_start": 618,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628709.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000546248.6",
"protein_id": "ENSP00000439281.2",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 286,
"cds_start": 618,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546248.6"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000962661.1",
"protein_id": "ENSP00000632720.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 730,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000962654.1",
"protein_id": "ENSP00000632713.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 729,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000962655.1",
"protein_id": "ENSP00000632714.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 729,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000962660.1",
"protein_id": "ENSP00000632719.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 729,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000962662.1",
"protein_id": "ENSP00000632721.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 729,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000962653.1",
"protein_id": "ENSP00000632712.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 728,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000962656.1",
"protein_id": "ENSP00000632715.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 728,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000962663.1",
"protein_id": "ENSP00000632722.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 728,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000962664.1",
"protein_id": "ENSP00000632723.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 728,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000962659.1",
"protein_id": "ENSP00000632718.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 727,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000962682.1",
"protein_id": "ENSP00000632741.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 727,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000962678.1",
"protein_id": "ENSP00000632737.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 726,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000962674.1",
"protein_id": "ENSP00000632733.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 725,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000962657.1",
"protein_id": "ENSP00000632716.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 719,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000962666.1",
"protein_id": "ENSP00000632725.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 719,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000962671.1",
"protein_id": "ENSP00000632730.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 719,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000962673.1",
"protein_id": "ENSP00000632732.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 718,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs",
"transcript": "ENST00000962676.1",
"protein_id": "ENSP00000632735.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 718,
"cds_start": 618,
"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": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"transcript": "ENST00000668867.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000668867.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRDN-AS1",
"gene_hgnc_id": 40592,
"hgvs_c": "n.191-5552delC",
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"transcript": "ENST00000761437.1",
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"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000761437.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "TRDN-AS1",
"gene_hgnc_id": 40592,
"hgvs_c": "n.258-4087delC",
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"transcript": "ENST00000761438.1",
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"aa_length": null,
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"cds_length": null,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000761438.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRDN-AS1",
"gene_hgnc_id": 40592,
"hgvs_c": "n.190-2616delC",
"hgvs_p": null,
"transcript": "ENST00000761439.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000761439.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRDN-AS1",
"gene_hgnc_id": 40592,
"hgvs_c": "n.271-2616delC",
"hgvs_p": null,
"transcript": "ENST00000761440.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000761440.1"
}
],
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"dbsnp": "rs1060502114",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.749,
"phylop100way_prediction": "Uncertain_significance",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_006073.4",
"gene_symbol": "TRDN",
"hgnc_id": 12261,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.618delG",
"hgvs_p": "p.Ala208fs"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000656482.3",
"gene_symbol": "TRDN-AS1",
"hgnc_id": 40592,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.322-5552delC",
"hgvs_p": null
}
],
"clinvar_disease": "Catecholaminergic polymorphic ventricular tachycardia 1",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Catecholaminergic polymorphic ventricular tachycardia 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}