← 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: 1-151776184-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151776184&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151776184,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006862.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "NM_001083965.2",
"protein_id": "NP_001077434.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368824.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083965.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000368824.8",
"protein_id": "ENSP00000357815.3",
"transcript_support_level": 1,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001083965.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368824.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000368827.10",
"protein_id": "ENSP00000357819.6",
"transcript_support_level": 1,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368827.10"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000458431.6",
"protein_id": "ENSP00000395718.2",
"transcript_support_level": 1,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458431.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "n.*606G>A",
"hgvs_p": null,
"transcript": "ENST00000525790.5",
"protein_id": "ENSP00000437147.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000525790.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "n.*606G>A",
"hgvs_p": null,
"transcript": "ENST00000525790.5",
"protein_id": "ENSP00000437147.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000525790.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000916230.1",
"protein_id": "ENSP00000586289.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 594,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916230.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000893137.1",
"protein_id": "ENSP00000563195.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 565,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893137.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000893141.1",
"protein_id": "ENSP00000563200.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 565,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893141.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000949953.1",
"protein_id": "ENSP00000620012.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 565,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949953.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000949954.1",
"protein_id": "ENSP00000620013.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 565,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949954.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "NM_001083963.1",
"protein_id": "NP_001077432.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083963.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "NM_006862.4",
"protein_id": "NP_006853.2",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006862.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000368822.5",
"protein_id": "ENSP00000357812.1",
"transcript_support_level": 5,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368822.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000893126.1",
"protein_id": "ENSP00000563186.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893126.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000893133.1",
"protein_id": "ENSP00000563192.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893133.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000893135.1",
"protein_id": "ENSP00000563194.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893135.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000893139.1",
"protein_id": "ENSP00000563198.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893139.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000893149.1",
"protein_id": "ENSP00000563208.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893149.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000916232.1",
"protein_id": "ENSP00000586291.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916232.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000949957.1",
"protein_id": "ENSP00000620016.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949957.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000949959.1",
"protein_id": "ENSP00000620018.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949959.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Gly376Ser",
"transcript": "ENST00000916228.1",
"protein_id": "ENSP00000586287.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 560,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916228.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1117G>A",
"hgvs_p": "p.Gly373Ser",
"transcript": "ENST00000368823.5",
"protein_id": "ENSP00000357813.1",
"transcript_support_level": 2,
"aa_start": 373,
"aa_end": null,
"aa_length": 557,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368823.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Gly363Ser",
"transcript": "ENST00000949955.1",
"protein_id": "ENSP00000620014.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 547,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949955.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Gly347Ser",
"transcript": "ENST00000893147.1",
"protein_id": "ENSP00000563206.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 531,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893147.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Gly347Ser",
"transcript": "ENST00000916231.1",
"protein_id": "ENSP00000586290.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 531,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916231.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000893130.1",
"protein_id": "ENSP00000563190.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 527,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893130.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000949956.1",
"protein_id": "ENSP00000620015.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 527,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949956.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000949958.1",
"protein_id": "ENSP00000620017.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 527,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949958.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Gly332Ser",
"transcript": "NM_001083964.1",
"protein_id": "NP_001077433.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 516,
"cds_start": 994,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083964.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Gly332Ser",
"transcript": "ENST00000368825.7",
"protein_id": "ENSP00000357817.3",
"transcript_support_level": 2,
"aa_start": 332,
"aa_end": null,
"aa_length": 516,
"cds_start": 994,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368825.7"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Gly332Ser",
"transcript": "ENST00000893143.1",
"protein_id": "ENSP00000563202.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 516,
"cds_start": 994,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893143.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Gly223Ser",
"transcript": "ENST00000893129.1",
"protein_id": "ENSP00000563188.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 407,
"cds_start": 667,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893129.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Gly223Ser",
"transcript": "ENST00000893145.1",
"protein_id": "ENSP00000563204.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 407,
"cds_start": 667,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893145.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Gly223Ser",
"transcript": "ENST00000916227.1",
"protein_id": "ENSP00000586286.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 407,
"cds_start": 667,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916227.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Gly223Ser",
"transcript": "ENST00000916229.1",
"protein_id": "ENSP00000586288.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 407,
"cds_start": 667,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916229.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Gly223Ser",
"transcript": "ENST00000949952.1",
"protein_id": "ENSP00000620011.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 407,
"cds_start": 667,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949952.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "XM_017000122.3",
"protein_id": "XP_016855611.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000122.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "XM_017000123.3",
"protein_id": "XP_016855612.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000123.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "XM_017000124.2",
"protein_id": "XP_016855613.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000124.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "XM_017000125.2",
"protein_id": "XP_016855614.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000125.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "XM_017000126.2",
"protein_id": "XP_016855615.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000126.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "XM_017000127.2",
"protein_id": "XP_016855616.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000127.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "XM_047441989.1",
"protein_id": "XP_047297945.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441989.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "XM_047442008.1",
"protein_id": "XP_047297964.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 561,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442008.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Gly153Ser",
"transcript": "XM_017000128.2",
"protein_id": "XP_016855617.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 337,
"cds_start": 457,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000128.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "n.*606G>A",
"hgvs_p": null,
"transcript": "ENST00000526413.5",
"protein_id": "ENSP00000433678.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526413.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"hgvs_c": "n.*606G>A",
"hgvs_p": null,
"transcript": "ENST00000526413.5",
"protein_id": "ENSP00000433678.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526413.5"
}
],
"gene_symbol": "TDRKH",
"gene_hgnc_id": 11713,
"dbsnp": "rs201135766",
"frequency_reference_population": 0.00004646558,
"hom_count_reference_population": 0,
"allele_count_reference_population": 75,
"gnomad_exomes_af": 0.0000389907,
"gnomad_genomes_af": 0.000118256,
"gnomad_exomes_ac": 57,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12321123480796814,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.097,
"revel_prediction": "Benign",
"alphamissense_score": 0.2793,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.465,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_006862.4",
"gene_symbol": "TDRKH",
"hgnc_id": 11713,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}