← 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: 2-1792456-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=1792456&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MYT1L",
"hgnc_id": 7623,
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Thr1095Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_001303052.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_score": -11,
"allele_count_reference_population": 21,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "2",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6100000143051147,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "T",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7144,
"cdna_start": 4114,
"cds_end": null,
"cds_length": 3561,
"cds_start": 3285,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001303052.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Thr1095Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000647738.2",
"protein_coding": true,
"protein_id": "NP_001289981.1",
"strand": false,
"transcript": "NM_001303052.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "T",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7144,
"cdna_start": 4114,
"cds_end": null,
"cds_length": 3561,
"cds_start": 3285,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000647738.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Thr1095Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001303052.2",
"protein_coding": true,
"protein_id": "ENSP00000497479.2",
"strand": false,
"transcript": "ENST00000647738.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "T",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6951,
"cdna_start": 4172,
"cds_end": null,
"cds_length": 3561,
"cds_start": 3285,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000428368.7",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Thr1095Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396103.3",
"strand": false,
"transcript": "ENST00000428368.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1184,
"aa_ref": "T",
"aa_start": 1093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7227,
"cdna_start": 4208,
"cds_end": null,
"cds_length": 3555,
"cds_start": 3279,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000399161.8",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3279G>A",
"hgvs_p": "p.Thr1093Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382114.3",
"strand": false,
"transcript": "ENST00000399161.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 184,
"aa_ref": "T",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3647,
"cdna_start": 640,
"cds_end": null,
"cds_length": 555,
"cds_start": 279,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000407844.6",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Thr93Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384219.1",
"strand": false,
"transcript": "ENST00000407844.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "T",
"aa_start": 1116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7269,
"cdna_start": 4250,
"cds_end": null,
"cds_length": 3624,
"cds_start": 3348,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000644820.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3348G>A",
"hgvs_p": "p.Thr1116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496210.1",
"strand": false,
"transcript": "ENST00000644820.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "T",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7220,
"cdna_start": 4190,
"cds_end": null,
"cds_length": 3561,
"cds_start": 3285,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001329844.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Thr1095Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316773.1",
"strand": false,
"transcript": "NM_001329844.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "T",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7010,
"cdna_start": 3980,
"cds_end": null,
"cds_length": 3561,
"cds_start": 3285,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001329845.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Thr1095Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316774.1",
"strand": false,
"transcript": "NM_001329845.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "T",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6804,
"cdna_start": 3980,
"cds_end": null,
"cds_length": 3561,
"cds_start": 3285,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000647694.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Thr1095Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497722.1",
"strand": false,
"transcript": "ENST00000647694.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "T",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7178,
"cdna_start": 4186,
"cds_end": null,
"cds_length": 3561,
"cds_start": 3285,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000650485.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Thr1095Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497068.1",
"strand": false,
"transcript": "ENST00000650485.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "T",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7141,
"cdna_start": 4134,
"cds_end": null,
"cds_length": 3561,
"cds_start": 3285,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000892482.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Thr1095Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562541.1",
"strand": false,
"transcript": "ENST00000892482.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1185,
"aa_ref": "T",
"aa_start": 1094,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7067,
"cdna_start": 4093,
"cds_end": null,
"cds_length": 3558,
"cds_start": 3282,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000650560.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3282G>A",
"hgvs_p": "p.Thr1094Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497816.1",
"strand": false,
"transcript": "ENST00000650560.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1184,
"aa_ref": "T",
"aa_start": 1093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7105,
"cdna_start": 4075,
"cds_end": null,
"cds_length": 3555,
"cds_start": 3279,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001329847.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3279G>A",
"hgvs_p": "p.Thr1093Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316776.1",
"strand": false,
"transcript": "NM_001329847.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1184,
"aa_ref": "T",
"aa_start": 1093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7187,
"cdna_start": 4157,
"cds_end": null,
"cds_length": 3555,
"cds_start": 3279,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001329848.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3279G>A",
"hgvs_p": "p.Thr1093Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316777.1",
"strand": false,
"transcript": "NM_001329848.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1184,
"aa_ref": "T",
"aa_start": 1093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7138,
"cdna_start": 4108,
"cds_end": null,
"cds_length": 3555,
"cds_start": 3279,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_015025.4",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3279G>A",
"hgvs_p": "p.Thr1093Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055840.2",
"strand": false,
"transcript": "NM_015025.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1184,
"aa_ref": "T",
"aa_start": 1093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6912,
"cdna_start": 4233,
"cds_end": null,
"cds_length": 3555,
"cds_start": 3279,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000648316.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3279G>A",
"hgvs_p": "p.Thr1093Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497870.1",
"strand": false,
"transcript": "ENST00000648316.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1184,
"aa_ref": "T",
"aa_start": 1093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7322,
"cdna_start": 4318,
"cds_end": null,
"cds_length": 3555,
"cds_start": 3279,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000648928.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3279G>A",
"hgvs_p": "p.Thr1093Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497017.1",
"strand": false,
"transcript": "ENST00000648928.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1184,
"aa_ref": "T",
"aa_start": 1093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7009,
"cdna_start": 4180,
"cds_end": null,
"cds_length": 3555,
"cds_start": 3279,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000649207.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3279G>A",
"hgvs_p": "p.Thr1093Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496986.1",
"strand": false,
"transcript": "ENST00000649207.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "T",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6376,
"cdna_start": 4114,
"cds_end": null,
"cds_length": 3447,
"cds_start": 3285,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001329849.3",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Thr1095Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316778.1",
"strand": false,
"transcript": "NM_001329849.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "T",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6155,
"cdna_start": 4096,
"cds_end": null,
"cds_length": 3447,
"cds_start": 3285,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000648665.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Thr1095Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497115.1",
"strand": false,
"transcript": "ENST00000648665.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1146,
"aa_ref": "T",
"aa_start": 1093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6337,
"cdna_start": 4075,
"cds_end": null,
"cds_length": 3441,
"cds_start": 3279,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001329846.3",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3279G>A",
"hgvs_p": "p.Thr1093Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316775.1",
"strand": false,
"transcript": "NM_001329846.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1146,
"aa_ref": "T",
"aa_start": 1093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6259,
"cdna_start": 3974,
"cds_end": null,
"cds_length": 3441,
"cds_start": 3279,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000647755.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3279G>A",
"hgvs_p": "p.Thr1093Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496922.1",
"strand": false,
"transcript": "ENST00000647755.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "T",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7434,
"cdna_start": 4114,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3285,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001329851.3",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Thr1095Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316780.1",
"strand": false,
"transcript": "NM_001329851.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "T",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7401,
"cdna_start": 4081,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3285,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001329852.3",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Thr1095Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316781.1",
"strand": false,
"transcript": "NM_001329852.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "T",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7273,
"cdna_start": 3964,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3285,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000648318.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Thr1095Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496831.1",
"strand": false,
"transcript": "ENST00000648318.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "T",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7299,
"cdna_start": 3980,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3285,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000648339.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Thr1095Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497493.1",
"strand": false,
"transcript": "ENST00000648339.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "T",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7192,
"cdna_start": 4075,
"cds_end": null,
"cds_length": 3432,
"cds_start": 3285,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000649663.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Thr1095Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497273.1",
"strand": false,
"transcript": "ENST00000649663.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1127,
"aa_ref": "T",
"aa_start": 1074,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6336,
"cdna_start": 4085,
"cds_end": null,
"cds_length": 3384,
"cds_start": 3222,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000647618.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3222G>A",
"hgvs_p": "p.Thr1074Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497024.1",
"strand": false,
"transcript": "ENST00000647618.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 981,
"aa_ref": "T",
"aa_start": 928,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4927,
"cdna_start": 2786,
"cds_end": null,
"cds_length": 2946,
"cds_start": 2784,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000648753.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.2784G>A",
"hgvs_p": "p.Thr928Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497206.2",
"strand": false,
"transcript": "ENST00000648753.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 972,
"aa_ref": "T",
"aa_start": 924,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5916,
"cdna_start": 2774,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2772,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000648931.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.2772G>A",
"hgvs_p": "p.Thr924Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498210.2",
"strand": false,
"transcript": "ENST00000648931.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 860,
"aa_ref": "T",
"aa_start": 769,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6094,
"cdna_start": 3205,
"cds_end": null,
"cds_length": 2583,
"cds_start": 2307,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000648933.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.2307G>A",
"hgvs_p": "p.Thr769Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497838.1",
"strand": false,
"transcript": "ENST00000648933.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 824,
"aa_ref": "T",
"aa_start": 771,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5368,
"cdna_start": 3101,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2313,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000648627.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.2313G>A",
"hgvs_p": "p.Thr771Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497309.1",
"strand": false,
"transcript": "ENST00000648627.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 677,
"aa_ref": "T",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4753,
"cdna_start": 1758,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1758,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000650399.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Thr586Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497900.2",
"strand": false,
"transcript": "ENST00000650399.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 668,
"aa_ref": "T",
"aa_start": 577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4737,
"cdna_start": 1733,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1731,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000649840.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1731G>A",
"hgvs_p": "p.Thr577Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496783.2",
"strand": false,
"transcript": "ENST00000649840.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 515,
"aa_ref": "T",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3617,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1251,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000649092.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.1251G>A",
"hgvs_p": "p.Thr417Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497331.2",
"strand": false,
"transcript": "ENST00000649092.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 180,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 924,
"cdna_start": 654,
"cds_end": null,
"cds_length": 543,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000399157.8",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Thr91Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382111.4",
"strand": false,
"transcript": "ENST00000399157.8",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "T",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7213,
"cdna_start": 4183,
"cds_end": null,
"cds_length": 3630,
"cds_start": 3354,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_011510318.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3354G>A",
"hgvs_p": "p.Thr1118Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508620.1",
"strand": false,
"transcript": "XM_011510318.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "T",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7180,
"cdna_start": 4150,
"cds_end": null,
"cds_length": 3630,
"cds_start": 3354,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_011510319.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3354G>A",
"hgvs_p": "p.Thr1118Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508621.1",
"strand": false,
"transcript": "XM_011510319.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "T",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7262,
"cdna_start": 4232,
"cds_end": null,
"cds_length": 3630,
"cds_start": 3354,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_011510320.4",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3354G>A",
"hgvs_p": "p.Thr1118Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508622.1",
"strand": false,
"transcript": "XM_011510320.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "T",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7079,
"cdna_start": 4049,
"cds_end": null,
"cds_length": 3630,
"cds_start": 3354,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_011510321.3",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3354G>A",
"hgvs_p": "p.Thr1118Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508623.1",
"strand": false,
"transcript": "XM_011510321.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "T",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7097,
"cdna_start": 4067,
"cds_end": null,
"cds_length": 3630,
"cds_start": 3354,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_011510322.3",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3354G>A",
"hgvs_p": "p.Thr1118Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508624.1",
"strand": false,
"transcript": "XM_011510322.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "T",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7036,
"cdna_start": 4006,
"cds_end": null,
"cds_length": 3630,
"cds_start": 3354,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011510323.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3354G>A",
"hgvs_p": "p.Thr1118Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508625.1",
"strand": false,
"transcript": "XM_011510323.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "T",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7289,
"cdna_start": 4259,
"cds_end": null,
"cds_length": 3630,
"cds_start": 3354,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_017003604.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3354G>A",
"hgvs_p": "p.Thr1118Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859093.1",
"strand": false,
"transcript": "XM_017003604.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "T",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6964,
"cdna_start": 3934,
"cds_end": null,
"cds_length": 3630,
"cds_start": 3354,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_017003605.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3354G>A",
"hgvs_p": "p.Thr1118Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859094.1",
"strand": false,
"transcript": "XM_017003605.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "T",
"aa_start": 1116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7207,
"cdna_start": 4177,
"cds_end": null,
"cds_length": 3624,
"cds_start": 3348,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_011510324.3",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3348G>A",
"hgvs_p": "p.Thr1116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508626.1",
"strand": false,
"transcript": "XM_011510324.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "T",
"aa_start": 1116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7174,
"cdna_start": 4144,
"cds_end": null,
"cds_length": 3624,
"cds_start": 3348,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_017003606.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3348G>A",
"hgvs_p": "p.Thr1116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859095.1",
"strand": false,
"transcript": "XM_017003606.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "T",
"aa_start": 1116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7256,
"cdna_start": 4226,
"cds_end": null,
"cds_length": 3624,
"cds_start": 3348,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_017003607.3",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3348G>A",
"hgvs_p": "p.Thr1116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859096.1",
"strand": false,
"transcript": "XM_017003607.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1188,
"aa_ref": "T",
"aa_start": 1097,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7150,
"cdna_start": 4120,
"cds_end": null,
"cds_length": 3567,
"cds_start": 3291,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011510326.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3291G>A",
"hgvs_p": "p.Thr1097Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508628.1",
"strand": false,
"transcript": "XM_011510326.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "T",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7111,
"cdna_start": 4081,
"cds_end": null,
"cds_length": 3561,
"cds_start": 3285,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_017003612.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Thr1095Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859101.1",
"strand": false,
"transcript": "XM_017003612.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1171,
"aa_ref": "T",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6445,
"cdna_start": 4183,
"cds_end": null,
"cds_length": 3516,
"cds_start": 3354,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_011510327.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3354G>A",
"hgvs_p": "p.Thr1118Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508629.1",
"strand": false,
"transcript": "XM_011510327.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1169,
"aa_ref": "T",
"aa_start": 1116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6439,
"cdna_start": 4177,
"cds_end": null,
"cds_length": 3510,
"cds_start": 3348,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_011510328.3",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3348G>A",
"hgvs_p": "p.Thr1116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508630.1",
"strand": false,
"transcript": "XM_011510328.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "T",
"aa_start": 1097,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6382,
"cdna_start": 4120,
"cds_end": null,
"cds_length": 3453,
"cds_start": 3291,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_017003615.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3291G>A",
"hgvs_p": "p.Thr1097Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859104.1",
"strand": false,
"transcript": "XM_017003615.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "T",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6376,
"cdna_start": 4114,
"cds_end": null,
"cds_length": 3447,
"cds_start": 3285,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_017003616.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Thr1095Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859105.1",
"strand": false,
"transcript": "XM_017003616.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1111,
"aa_ref": "T",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6303,
"cdna_start": 3273,
"cds_end": null,
"cds_length": 3336,
"cds_start": 3060,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017003620.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "c.3060G>A",
"hgvs_p": "p.Thr1020Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859109.1",
"strand": false,
"transcript": "XM_017003620.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4846,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000647687.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "n.*1175G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498070.2",
"strand": false,
"transcript": "ENST00000647687.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4992,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000648299.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "n.2090G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000648299.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4653,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000648465.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "n.1657G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000648465.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4021,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000648478.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "n.1783G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000648478.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3942,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000648486.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "n.1163G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000648486.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3420,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000648598.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "n.433G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000648598.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4792,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000648643.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "n.1788G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000648643.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3476,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000648814.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "n.446G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000648814.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4359,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000648913.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "n.1375G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000648913.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2546,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000650593.1",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "n.328G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000650593.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4846,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000647687.2",
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"hgvs_c": "n.*1175G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498070.2",
"strand": false,
"transcript": "ENST00000647687.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs968012777",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0000143744055,
"gene_hgnc_id": 7623,
"gene_symbol": "MYT1L",
"gnomad_exomes_ac": 21,
"gnomad_exomes_af": 0.0000143744,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.126,
"pos": 1792456,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001303052.2"
}
]
}