← 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: 8-11750149-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=11750149&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "GATA4",
"hgnc_id": 4173,
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Cys275Cys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001308093.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS1,BS2",
"acmg_score": -12,
"allele_count_reference_population": 6411,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "8",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Atrial septal defect 2,Atrioventricular septal defect 4,Cardiovascular phenotype,Primary dilated cardiomyopathy,Tetralogy of Fallot,Ventricular septal defect 1,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:4 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3400000035762787,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 443,
"aa_ref": "C",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3419,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 1332,
"cds_start": 825,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001308093.3",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Cys275Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000532059.6",
"protein_coding": true,
"protein_id": "NP_001295022.1",
"strand": true,
"transcript": "NM_001308093.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 443,
"aa_ref": "C",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3419,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 1332,
"cds_start": 825,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000532059.6",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Cys275Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001308093.3",
"protein_coding": true,
"protein_id": "ENSP00000435712.1",
"strand": true,
"transcript": "ENST00000532059.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 449,
"aa_ref": "C",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3434,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1350,
"cds_start": 843,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000886854.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.843C>T",
"hgvs_p": "p.Cys281Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556913.1",
"strand": true,
"transcript": "ENST00000886854.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 443,
"aa_ref": "C",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3716,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 1332,
"cds_start": 825,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886846.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Cys275Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556905.1",
"strand": true,
"transcript": "ENST00000886846.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 443,
"aa_ref": "C",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3809,
"cdna_start": 1778,
"cds_end": null,
"cds_length": 1332,
"cds_start": 825,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886848.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Cys275Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556907.1",
"strand": true,
"transcript": "ENST00000886848.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 443,
"aa_ref": "C",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 1332,
"cds_start": 825,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000886851.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Cys275Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556910.1",
"strand": true,
"transcript": "ENST00000886851.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 443,
"aa_ref": "C",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3650,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 1332,
"cds_start": 825,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886852.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Cys275Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556911.1",
"strand": true,
"transcript": "ENST00000886852.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 443,
"aa_ref": "C",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3539,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 1332,
"cds_start": 825,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886853.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Cys275Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556912.1",
"strand": true,
"transcript": "ENST00000886853.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 443,
"aa_ref": "C",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3521,
"cdna_start": 1490,
"cds_end": null,
"cds_length": 1332,
"cds_start": 825,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952124.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Cys275Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622183.1",
"strand": true,
"transcript": "ENST00000952124.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 443,
"aa_ref": "C",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3674,
"cdna_start": 1642,
"cds_end": null,
"cds_length": 1332,
"cds_start": 825,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952125.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Cys275Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622184.1",
"strand": true,
"transcript": "ENST00000952125.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 443,
"aa_ref": "C",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4720,
"cdna_start": 2687,
"cds_end": null,
"cds_length": 1332,
"cds_start": 825,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952126.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Cys275Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622185.1",
"strand": true,
"transcript": "ENST00000952126.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 443,
"aa_ref": "C",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3375,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 1332,
"cds_start": 825,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000952127.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Cys275Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622186.1",
"strand": true,
"transcript": "ENST00000952127.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 442,
"aa_ref": "C",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3416,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 1329,
"cds_start": 822,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_002052.5",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.822C>T",
"hgvs_p": "p.Cys274Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002043.2",
"strand": true,
"transcript": "NM_002052.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 442,
"aa_ref": "C",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3414,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 1329,
"cds_start": 822,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000335135.8",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.822C>T",
"hgvs_p": "p.Cys274Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334458.4",
"strand": true,
"transcript": "ENST00000335135.8",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 442,
"aa_ref": "C",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3508,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 1329,
"cds_start": 822,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000622443.3",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.822C>T",
"hgvs_p": "p.Cys274Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482268.2",
"strand": true,
"transcript": "ENST00000622443.3",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 442,
"aa_ref": "C",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3863,
"cdna_start": 1829,
"cds_end": null,
"cds_length": 1329,
"cds_start": 822,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886845.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.822C>T",
"hgvs_p": "p.Cys274Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556904.1",
"strand": true,
"transcript": "ENST00000886845.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 442,
"aa_ref": "C",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3441,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 1329,
"cds_start": 822,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000886847.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.822C>T",
"hgvs_p": "p.Cys274Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556906.1",
"strand": true,
"transcript": "ENST00000886847.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 442,
"aa_ref": "C",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3974,
"cdna_start": 1942,
"cds_end": null,
"cds_length": 1329,
"cds_start": 822,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886849.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.822C>T",
"hgvs_p": "p.Cys274Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556908.1",
"strand": true,
"transcript": "ENST00000886849.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 442,
"aa_ref": "C",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3554,
"cdna_start": 1524,
"cds_end": null,
"cds_length": 1329,
"cds_start": 822,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000886850.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.822C>T",
"hgvs_p": "p.Cys274Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556909.1",
"strand": true,
"transcript": "ENST00000886850.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 442,
"aa_ref": "C",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3483,
"cdna_start": 1453,
"cds_end": null,
"cds_length": 1329,
"cds_start": 822,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000886855.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.822C>T",
"hgvs_p": "p.Cys274Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556914.1",
"strand": true,
"transcript": "ENST00000886855.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 442,
"aa_ref": "C",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3852,
"cdna_start": 1819,
"cds_end": null,
"cds_length": 1329,
"cds_start": 822,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000952123.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.822C>T",
"hgvs_p": "p.Cys274Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622182.1",
"strand": true,
"transcript": "ENST00000952123.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 442,
"aa_ref": "C",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 1329,
"cds_start": 822,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952128.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.822C>T",
"hgvs_p": "p.Cys274Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622187.1",
"strand": true,
"transcript": "ENST00000952128.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 442,
"aa_ref": "C",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3397,
"cdna_start": 1365,
"cds_end": null,
"cds_length": 1329,
"cds_start": 822,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000952129.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.822C>T",
"hgvs_p": "p.Cys274Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622188.1",
"strand": true,
"transcript": "ENST00000952129.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 435,
"aa_ref": "C",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3393,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 1308,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000952130.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.801C>T",
"hgvs_p": "p.Cys267Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622189.1",
"strand": true,
"transcript": "ENST00000952130.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 236,
"aa_ref": "C",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 606,
"cds_end": null,
"cds_length": 711,
"cds_start": 204,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001308094.2",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Cys68Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295023.1",
"strand": true,
"transcript": "NM_001308094.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 236,
"aa_ref": "C",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2343,
"cdna_start": 309,
"cds_end": null,
"cds_length": 711,
"cds_start": 204,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001374273.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Cys68Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361202.1",
"strand": true,
"transcript": "NM_001374273.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 236,
"aa_ref": "C",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2614,
"cdna_start": 582,
"cds_end": null,
"cds_length": 711,
"cds_start": 204,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000528712.5",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Cys68Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435043.1",
"strand": true,
"transcript": "ENST00000528712.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 174,
"aa_ref": "C",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 686,
"cdna_start": 363,
"cds_end": null,
"cds_length": 527,
"cds_start": 204,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000526716.5",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Cys68Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435347.1",
"strand": true,
"transcript": "ENST00000526716.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 400,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": null,
"cds_end": null,
"cds_length": 1203,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952131.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.783+1064C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622190.1",
"strand": true,
"transcript": "ENST00000952131.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 194,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": null,
"cds_end": null,
"cds_length": 585,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374274.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.165+1064C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361203.1",
"strand": true,
"transcript": "NM_001374274.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs55980825",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0039721043,
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"gnomad_exomes_ac": 6003,
"gnomad_exomes_af": 0.00410708,
"gnomad_exomes_homalt": 11,
"gnomad_genomes_ac": 408,
"gnomad_genomes_af": 0.00267748,
"gnomad_genomes_homalt": 3,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 14,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not specified|Cardiovascular phenotype|Atrioventricular septal defect 4|Atrial septal defect 2|Tetralogy of Fallot|Ventricular septal defect 1|Primary dilated cardiomyopathy|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.827,
"pos": 11750149,
"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_001308093.3"
}
]
}