← 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: 14-104773030-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=104773030&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "AKT1",
"hgnc_id": 391,
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_005163.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 5830,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "14",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Cowden syndrome 6,Inborn genetic diseases,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6100000143051147,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2957,
"cdna_start": 1542,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001382430.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000649815.2",
"protein_coding": true,
"protein_id": "NP_001369359.1",
"strand": false,
"transcript": "NM_001382430.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2957,
"cdna_start": 1542,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000649815.2",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001382430.1",
"protein_coding": true,
"protein_id": "ENSP00000497822.1",
"strand": false,
"transcript": "ENST00000649815.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2866,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000349310.7",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000270202.4",
"strand": false,
"transcript": "ENST00000349310.7",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3913,
"cdna_start": 2501,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000402615.6",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385326.2",
"strand": false,
"transcript": "ENST00000402615.6",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000407796.7",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384293.2",
"strand": false,
"transcript": "ENST00000407796.7",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3916,
"cdna_start": 2501,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000554581.5",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451828.1",
"strand": false,
"transcript": "ENST00000554581.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1595,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000554848.5",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451166.1",
"strand": false,
"transcript": "ENST00000554848.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3066,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000555528.5",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450688.1",
"strand": false,
"transcript": "ENST00000555528.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 529,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 1598,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000714130.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519419.1",
"strand": false,
"transcript": "ENST00000714130.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 529,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2921,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939382.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609441.1",
"strand": false,
"transcript": "ENST00000939382.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 529,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000959650.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629709.1",
"strand": false,
"transcript": "ENST00000959650.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 529,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 1674,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000959670.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629729.1",
"strand": false,
"transcript": "ENST00000959670.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 505,
"aa_ref": "Y",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3711,
"cdna_start": 2343,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1095,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000553797.2",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1095C>T",
"hgvs_p": "p.Tyr365Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507566.1",
"strand": false,
"transcript": "ENST00000553797.2",
"transcript_support_level": 3
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 500,
"aa_ref": "Y",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2839,
"cdna_start": 1426,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1080,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000959659.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1080C>T",
"hgvs_p": "p.Tyr360Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629718.1",
"strand": false,
"transcript": "ENST00000959659.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001014431.2",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001014431.1",
"strand": false,
"transcript": "NM_001014431.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2863,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001014432.2",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001014432.1",
"strand": false,
"transcript": "NM_001014432.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2922,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001382431.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369360.1",
"strand": false,
"transcript": "NM_001382431.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 1591,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001382432.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369361.1",
"strand": false,
"transcript": "NM_001382432.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3075,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001382433.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369362.1",
"strand": false,
"transcript": "NM_001382433.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": 1574,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_005163.2",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005154.2",
"strand": false,
"transcript": "NM_005163.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2609,
"cdna_start": 1216,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000683722.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507879.1",
"strand": false,
"transcript": "ENST00000683722.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2604,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000855590.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525649.1",
"strand": false,
"transcript": "ENST00000855590.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": 1506,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000855591.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525650.1",
"strand": false,
"transcript": "ENST00000855591.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000855592.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525651.1",
"strand": false,
"transcript": "ENST00000855592.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2765,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000855593.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525652.1",
"strand": false,
"transcript": "ENST00000855593.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2766,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000855595.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525654.1",
"strand": false,
"transcript": "ENST00000855595.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2888,
"cdna_start": 1473,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000855596.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525655.1",
"strand": false,
"transcript": "ENST00000855596.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2808,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000855597.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525656.1",
"strand": false,
"transcript": "ENST00000855597.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2926,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000855598.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525657.1",
"strand": false,
"transcript": "ENST00000855598.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2979,
"cdna_start": 1567,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000855599.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525658.1",
"strand": false,
"transcript": "ENST00000855599.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000855600.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525659.1",
"strand": false,
"transcript": "ENST00000855600.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4598,
"cdna_start": 3183,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939375.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609434.1",
"strand": false,
"transcript": "ENST00000939375.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3344,
"cdna_start": 1929,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000939376.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609435.1",
"strand": false,
"transcript": "ENST00000939376.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3014,
"cdna_start": 1598,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000939377.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609436.1",
"strand": false,
"transcript": "ENST00000939377.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5003,
"cdna_start": 3588,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939381.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609440.1",
"strand": false,
"transcript": "ENST00000939381.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4304,
"cdna_start": 2889,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000939384.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609443.1",
"strand": false,
"transcript": "ENST00000939384.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2828,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000939386.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609445.1",
"strand": false,
"transcript": "ENST00000939386.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3416,
"cdna_start": 2001,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000939387.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609446.1",
"strand": false,
"transcript": "ENST00000939387.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3201,
"cdna_start": 1786,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939388.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609447.1",
"strand": false,
"transcript": "ENST00000939388.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2951,
"cdna_start": 1538,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000939389.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609448.1",
"strand": false,
"transcript": "ENST00000939389.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": 1556,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000959648.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629707.1",
"strand": false,
"transcript": "ENST00000959648.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": 1773,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000959649.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629708.1",
"strand": false,
"transcript": "ENST00000959649.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3091,
"cdna_start": 1679,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000959651.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629710.1",
"strand": false,
"transcript": "ENST00000959651.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3268,
"cdna_start": 1855,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000959652.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629711.1",
"strand": false,
"transcript": "ENST00000959652.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2980,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000959654.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629713.1",
"strand": false,
"transcript": "ENST00000959654.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3017,
"cdna_start": 1602,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000959656.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629715.1",
"strand": false,
"transcript": "ENST00000959656.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3584,
"cdna_start": 2169,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000959657.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629716.1",
"strand": false,
"transcript": "ENST00000959657.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3005,
"cdna_start": 1595,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000959658.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629717.1",
"strand": false,
"transcript": "ENST00000959658.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2923,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000959663.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629722.1",
"strand": false,
"transcript": "ENST00000959663.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3317,
"cdna_start": 1901,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000959665.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629724.1",
"strand": false,
"transcript": "ENST00000959665.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2847,
"cdna_start": 1437,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000959669.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629728.1",
"strand": false,
"transcript": "ENST00000959669.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3556,
"cdna_start": 2144,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000959671.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629730.1",
"strand": false,
"transcript": "ENST00000959671.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2874,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000959672.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629731.1",
"strand": false,
"transcript": "ENST00000959672.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3038,
"cdna_start": 1625,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000959673.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629732.1",
"strand": false,
"transcript": "ENST00000959673.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2954,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000959674.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629733.1",
"strand": false,
"transcript": "ENST00000959674.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4178,
"cdna_start": 2768,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000959676.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629735.1",
"strand": false,
"transcript": "ENST00000959676.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5084,
"cdna_start": 3674,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000959677.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629736.1",
"strand": false,
"transcript": "ENST00000959677.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3634,
"cdna_start": 2219,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000959679.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629738.1",
"strand": false,
"transcript": "ENST00000959679.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3930,
"cdna_start": 2518,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000959680.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629739.1",
"strand": false,
"transcript": "ENST00000959680.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3031,
"cdna_start": 1619,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000959681.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629740.1",
"strand": false,
"transcript": "ENST00000959681.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3249,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000959682.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629741.1",
"strand": false,
"transcript": "ENST00000959682.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": 1675,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000959683.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629742.1",
"strand": false,
"transcript": "ENST00000959683.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": 1606,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000959684.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629743.1",
"strand": false,
"transcript": "ENST00000959684.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": 1730,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000959685.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629744.1",
"strand": false,
"transcript": "ENST00000959685.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 479,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2736,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000855594.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1017C>T",
"hgvs_p": "p.Tyr339Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525653.1",
"strand": false,
"transcript": "ENST00000855594.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 479,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2959,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000959653.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1017C>T",
"hgvs_p": "p.Tyr339Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629712.1",
"strand": false,
"transcript": "ENST00000959653.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 474,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2766,
"cdna_start": 1369,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939380.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609439.1",
"strand": false,
"transcript": "ENST00000939380.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 474,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2753,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939383.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609442.1",
"strand": false,
"transcript": "ENST00000939383.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 474,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2935,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000959662.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629721.1",
"strand": false,
"transcript": "ENST00000959662.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 474,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000959675.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629734.1",
"strand": false,
"transcript": "ENST00000959675.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 472,
"aa_ref": "Y",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2963,
"cdna_start": 1548,
"cds_end": null,
"cds_length": 1419,
"cds_start": 996,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000939374.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.996C>T",
"hgvs_p": "p.Tyr332Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609433.1",
"strand": false,
"transcript": "ENST00000939374.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 472,
"aa_ref": "Y",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2763,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1419,
"cds_start": 996,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939378.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.996C>T",
"hgvs_p": "p.Tyr332Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609437.1",
"strand": false,
"transcript": "ENST00000939378.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 472,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2748,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000959668.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629727.1",
"strand": false,
"transcript": "ENST00000959668.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 469,
"aa_ref": "Y",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2740,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 1410,
"cds_start": 987,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000959678.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.987C>T",
"hgvs_p": "p.Tyr329Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629737.1",
"strand": false,
"transcript": "ENST00000959678.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 467,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1942,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000555458.6",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451470.3",
"strand": false,
"transcript": "ENST00000555458.6",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 438,
"aa_ref": "Y",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2664,
"cdna_start": 1249,
"cds_end": null,
"cds_length": 1317,
"cds_start": 894,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000714123.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.894C>T",
"hgvs_p": "p.Tyr298Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519414.1",
"strand": false,
"transcript": "ENST00000714123.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 437,
"aa_ref": "Y",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2657,
"cdna_start": 1242,
"cds_end": null,
"cds_length": 1314,
"cds_start": 891,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000939379.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.891C>T",
"hgvs_p": "p.Tyr297Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609438.1",
"strand": false,
"transcript": "ENST00000939379.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 437,
"aa_ref": "Y",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2466,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 1314,
"cds_start": 891,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000939390.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.891C>T",
"hgvs_p": "p.Tyr297Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609449.1",
"strand": false,
"transcript": "ENST00000939390.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 437,
"aa_ref": "Y",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2824,
"cdna_start": 1412,
"cds_end": null,
"cds_length": 1314,
"cds_start": 891,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000959661.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.891C>T",
"hgvs_p": "p.Tyr297Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629720.1",
"strand": false,
"transcript": "ENST00000959661.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 436,
"aa_ref": "Y",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 1311,
"cds_start": 888,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000959660.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.888C>T",
"hgvs_p": "p.Tyr296Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629719.1",
"strand": false,
"transcript": "ENST00000959660.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 432,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2630,
"cdna_start": 1362,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000959664.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629723.1",
"strand": false,
"transcript": "ENST00000959664.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3781,
"cdna_start": 2366,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047431069.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287025.1",
"strand": false,
"transcript": "XM_047431069.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3569,
"cdna_start": 2154,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047431070.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287026.1",
"strand": false,
"transcript": "XM_047431070.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": 2071,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047431071.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287027.1",
"strand": false,
"transcript": "XM_047431071.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": 1851,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047431072.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287028.1",
"strand": false,
"transcript": "XM_047431072.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3678,
"cdna_start": 2263,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047431073.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287029.1",
"strand": false,
"transcript": "XM_047431073.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3914,
"cdna_start": 2499,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047431074.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287030.1",
"strand": false,
"transcript": "XM_047431074.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 480,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3100,
"cdna_start": 1685,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1020,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047431075.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Tyr340Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287031.1",
"strand": false,
"transcript": "XM_047431075.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 447,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2057,
"cdna_start": null,
"cds_end": null,
"cds_length": 1344,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554192.6",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.958-37C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450681.3",
"strand": false,
"transcript": "ENST00000554192.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 447,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2981,
"cdna_start": null,
"cds_end": null,
"cds_length": 1344,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939385.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.958-37C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609444.1",
"strand": false,
"transcript": "ENST00000939385.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 447,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": null,
"cds_end": null,
"cds_length": 1344,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959655.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.958-37C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629714.1",
"strand": false,
"transcript": "ENST00000959655.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 447,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3375,
"cdna_start": null,
"cds_end": null,
"cds_length": 1344,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959667.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.958-37C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629726.1",
"strand": false,
"transcript": "ENST00000959667.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 440,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2654,
"cdna_start": null,
"cds_end": null,
"cds_length": 1323,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959666.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.957+221C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629725.1",
"strand": false,
"transcript": "ENST00000959666.1",
"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": 1564,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000544168.5",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "n.955C>T",
"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": "ENST00000544168.5",
"transcript_support_level": 2
},
{
"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": 2830,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000553506.5",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "n.1418C>T",
"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": "ENST00000553506.5",
"transcript_support_level": 2
},
{
"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": 2030,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000554585.6",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "n.1020C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000481526.2",
"strand": false,
"transcript": "ENST00000554585.6",
"transcript_support_level": 3
},
{
"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": 2857,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000554826.2",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "n.1489C>T",
"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": "ENST00000554826.2",
"transcript_support_level": 3
},
{
"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": 8396,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000557552.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "n.5467C>T",
"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": "ENST00000557552.1",
"transcript_support_level": 5
},
{
"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": 4373,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000610370.2",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "n.1489C>T",
"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": "ENST00000610370.2",
"transcript_support_level": 2
},
{
"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": 2587,
"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": "ENST00000682269.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "n.1537C>T",
"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": "ENST00000682269.1",
"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": 2277,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000683058.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "n.897C>T",
"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": "ENST00000683058.1",
"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": 1945,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000684058.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "n.577C>T",
"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": "ENST00000684058.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs144088506",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0036118438,
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"gnomad_exomes_ac": 5501,
"gnomad_exomes_af": 0.00376302,
"gnomad_exomes_homalt": 15,
"gnomad_genomes_ac": 329,
"gnomad_genomes_af": 0.00216052,
"gnomad_genomes_homalt": 2,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 17,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "Cowden syndrome 6|not specified|not provided|Inborn genetic diseases",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.131,
"pos": 104773030,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.05000000074505806,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.05,
"transcript": "NM_005163.2"
}
]
}