← 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: 19-18137336-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18137336&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MAST3",
"hgnc_id": 19036,
"hgvs_c": "c.2094T>A",
"hgvs_p": "p.Ala698Ala",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001393501.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.77,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7699999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1347,
"aa_ref": "A",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6020,
"cdna_start": 2085,
"cds_end": null,
"cds_length": 4044,
"cds_start": 2070,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001393504.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2070T>A",
"hgvs_p": "p.Ala690Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000687212.1",
"protein_coding": true,
"protein_id": "NP_001380433.1",
"strand": true,
"transcript": "NM_001393504.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1347,
"aa_ref": "A",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6020,
"cdna_start": 2085,
"cds_end": null,
"cds_length": 4044,
"cds_start": 2070,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000687212.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2070T>A",
"hgvs_p": "p.Ala690Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001393504.1",
"protein_coding": true,
"protein_id": "ENSP00000509890.1",
"strand": true,
"transcript": "ENST00000687212.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1309,
"aa_ref": "A",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5896,
"cdna_start": 1983,
"cds_end": null,
"cds_length": 3930,
"cds_start": 1983,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000262811.10",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.1983T>A",
"hgvs_p": "p.Ala661Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262811.4",
"strand": true,
"transcript": "ENST00000262811.10",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1355,
"aa_ref": "A",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6044,
"cdna_start": 2109,
"cds_end": null,
"cds_length": 4068,
"cds_start": 2094,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001393501.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2094T>A",
"hgvs_p": "p.Ala698Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380430.1",
"strand": true,
"transcript": "NM_001393501.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1348,
"aa_ref": "A",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6023,
"cdna_start": 2088,
"cds_end": null,
"cds_length": 4047,
"cds_start": 2073,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001393502.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2073T>A",
"hgvs_p": "p.Ala691Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380431.1",
"strand": true,
"transcript": "NM_001393502.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1347,
"aa_ref": "A",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6149,
"cdna_start": 2214,
"cds_end": null,
"cds_length": 4044,
"cds_start": 2070,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001393503.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2070T>A",
"hgvs_p": "p.Ala690Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380432.1",
"strand": true,
"transcript": "NM_001393503.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "A",
"aa_start": 689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6119,
"cdna_start": 2211,
"cds_end": null,
"cds_length": 4014,
"cds_start": 2067,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001393505.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2067T>A",
"hgvs_p": "p.Ala689Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380434.1",
"strand": true,
"transcript": "NM_001393505.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1331,
"aa_ref": "A",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6136,
"cdna_start": 2201,
"cds_end": null,
"cds_length": 3996,
"cds_start": 2022,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001393506.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2022T>A",
"hgvs_p": "p.Ala674Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380435.1",
"strand": true,
"transcript": "NM_001393506.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1331,
"aa_ref": "A",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6101,
"cdna_start": 2193,
"cds_end": null,
"cds_length": 3996,
"cds_start": 2049,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001393507.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2049T>A",
"hgvs_p": "p.Ala683Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380436.1",
"strand": true,
"transcript": "NM_001393507.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1331,
"aa_ref": "A",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6112,
"cdna_start": 2199,
"cds_end": null,
"cds_length": 3996,
"cds_start": 2049,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000697701.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2049T>A",
"hgvs_p": "p.Ala683Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513408.1",
"strand": true,
"transcript": "ENST00000697701.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1326,
"aa_ref": "A",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 2034,
"cds_end": null,
"cds_length": 3981,
"cds_start": 2007,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000893417.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2007T>A",
"hgvs_p": "p.Ala669Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563476.1",
"strand": true,
"transcript": "ENST00000893417.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1325,
"aa_ref": "A",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5954,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 3978,
"cds_start": 2004,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001393508.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2004T>A",
"hgvs_p": "p.Ala668Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380437.1",
"strand": true,
"transcript": "NM_001393508.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1324,
"aa_ref": "A",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5951,
"cdna_start": 2016,
"cds_end": null,
"cds_length": 3975,
"cds_start": 2001,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001393509.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2001T>A",
"hgvs_p": "p.Ala667Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380438.1",
"strand": true,
"transcript": "NM_001393509.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1324,
"aa_ref": "A",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6115,
"cdna_start": 2180,
"cds_end": null,
"cds_length": 3975,
"cds_start": 2001,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001393510.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2001T>A",
"hgvs_p": "p.Ala667Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380439.1",
"strand": true,
"transcript": "NM_001393510.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1323,
"aa_ref": "A",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6112,
"cdna_start": 2177,
"cds_end": null,
"cds_length": 3972,
"cds_start": 1998,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001393511.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.1998T>A",
"hgvs_p": "p.Ala666Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380440.1",
"strand": true,
"transcript": "NM_001393511.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1323,
"aa_ref": "A",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5948,
"cdna_start": 2016,
"cds_end": null,
"cds_length": 3972,
"cds_start": 2001,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001393512.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2001T>A",
"hgvs_p": "p.Ala667Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380441.1",
"strand": true,
"transcript": "NM_001393512.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1322,
"aa_ref": "A",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6109,
"cdna_start": 2201,
"cds_end": null,
"cds_length": 3969,
"cds_start": 2022,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001393513.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2022T>A",
"hgvs_p": "p.Ala674Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380442.1",
"strand": true,
"transcript": "NM_001393513.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1318,
"aa_ref": "A",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5933,
"cdna_start": 1998,
"cds_end": null,
"cds_length": 3957,
"cds_start": 1983,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001393514.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.1983T>A",
"hgvs_p": "p.Ala661Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380443.1",
"strand": true,
"transcript": "NM_001393514.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1318,
"aa_ref": "A",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5967,
"cdna_start": 2027,
"cds_end": null,
"cds_length": 3957,
"cds_start": 1983,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000893415.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.1983T>A",
"hgvs_p": "p.Ala661Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563474.1",
"strand": true,
"transcript": "ENST00000893415.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1317,
"aa_ref": "A",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5930,
"cdna_start": 1995,
"cds_end": null,
"cds_length": 3954,
"cds_start": 1980,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001393515.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.1980T>A",
"hgvs_p": "p.Ala660Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380444.1",
"strand": true,
"transcript": "NM_001393515.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1316,
"aa_ref": "A",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5927,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 3951,
"cds_start": 2004,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001393516.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2004T>A",
"hgvs_p": "p.Ala668Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380445.1",
"strand": true,
"transcript": "NM_001393516.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "A",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6088,
"cdna_start": 2180,
"cds_end": null,
"cds_length": 3948,
"cds_start": 2001,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001393517.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2001T>A",
"hgvs_p": "p.Ala667Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380446.1",
"strand": true,
"transcript": "NM_001393517.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "A",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5924,
"cdna_start": 2016,
"cds_end": null,
"cds_length": 3948,
"cds_start": 2001,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001393518.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2001T>A",
"hgvs_p": "p.Ala667Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380447.1",
"strand": true,
"transcript": "NM_001393518.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "A",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6239,
"cdna_start": 2326,
"cds_end": null,
"cds_length": 3948,
"cds_start": 2001,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000697702.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2001T>A",
"hgvs_p": "p.Ala667Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513409.1",
"strand": true,
"transcript": "ENST00000697702.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "A",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5942,
"cdna_start": 2034,
"cds_end": null,
"cds_length": 3948,
"cds_start": 2001,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000893416.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2001T>A",
"hgvs_p": "p.Ala667Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563475.1",
"strand": true,
"transcript": "ENST00000893416.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1314,
"aa_ref": "A",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6085,
"cdna_start": 2177,
"cds_end": null,
"cds_length": 3945,
"cds_start": 1998,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001393519.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.1998T>A",
"hgvs_p": "p.Ala666Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380448.1",
"strand": true,
"transcript": "NM_001393519.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1309,
"aa_ref": "A",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5906,
"cdna_start": 1998,
"cds_end": null,
"cds_length": 3930,
"cds_start": 1983,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_015016.2",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.1983T>A",
"hgvs_p": "p.Ala661Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055831.1",
"strand": true,
"transcript": "NM_015016.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1308,
"aa_ref": "A",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5903,
"cdna_start": 1995,
"cds_end": null,
"cds_length": 3927,
"cds_start": 1980,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001393520.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.1980T>A",
"hgvs_p": "p.Ala660Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380449.1",
"strand": true,
"transcript": "NM_001393520.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "A",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6008,
"cdna_start": 2100,
"cds_end": null,
"cds_length": 3903,
"cds_start": 1956,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001393521.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.1956T>A",
"hgvs_p": "p.Ala652Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380450.1",
"strand": true,
"transcript": "NM_001393521.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1031,
"aa_ref": "A",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3096,
"cdna_start": 2004,
"cds_end": null,
"cds_length": 3096,
"cds_start": 2004,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000697700.2",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2004T>A",
"hgvs_p": "p.Ala668Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513407.2",
"strand": true,
"transcript": "ENST00000697700.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1023,
"aa_ref": "A",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": 1995,
"cds_end": null,
"cds_length": 3072,
"cds_start": 1980,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000704363.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.1980T>A",
"hgvs_p": "p.Ala660Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515871.1",
"strand": true,
"transcript": "ENST00000704363.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "A",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6278,
"cdna_start": 2343,
"cds_end": null,
"cds_length": 4260,
"cds_start": 2286,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_006722699.3",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2286T>A",
"hgvs_p": "p.Ala762Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722762.2",
"strand": true,
"transcript": "XM_006722699.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1418,
"aa_ref": "A",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6275,
"cdna_start": 2340,
"cds_end": null,
"cds_length": 4257,
"cds_start": 2283,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017026506.2",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2283T>A",
"hgvs_p": "p.Ala761Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881995.1",
"strand": true,
"transcript": "XM_017026506.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1412,
"aa_ref": "A",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6257,
"cdna_start": 2322,
"cds_end": null,
"cds_length": 4239,
"cds_start": 2265,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_017026507.2",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2265T>A",
"hgvs_p": "p.Ala755Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881996.1",
"strand": true,
"transcript": "XM_017026507.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1411,
"aa_ref": "A",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6254,
"cdna_start": 2319,
"cds_end": null,
"cds_length": 4236,
"cds_start": 2262,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_017026508.2",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2262T>A",
"hgvs_p": "p.Ala754Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881997.1",
"strand": true,
"transcript": "XM_017026508.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "A",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6251,
"cdna_start": 2343,
"cds_end": null,
"cds_length": 4233,
"cds_start": 2286,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017026509.2",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2286T>A",
"hgvs_p": "p.Ala762Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881998.1",
"strand": true,
"transcript": "XM_017026509.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1409,
"aa_ref": "A",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6248,
"cdna_start": 2340,
"cds_end": null,
"cds_length": 4230,
"cds_start": 2283,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017026516.2",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2283T>A",
"hgvs_p": "p.Ala761Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882005.1",
"strand": true,
"transcript": "XM_017026516.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1403,
"aa_ref": "A",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6230,
"cdna_start": 2322,
"cds_end": null,
"cds_length": 4212,
"cds_start": 2265,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_017026510.3",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2265T>A",
"hgvs_p": "p.Ala755Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881999.1",
"strand": true,
"transcript": "XM_017026510.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1402,
"aa_ref": "A",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6227,
"cdna_start": 2319,
"cds_end": null,
"cds_length": 4209,
"cds_start": 2262,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047438473.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2262T>A",
"hgvs_p": "p.Ala754Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294429.1",
"strand": true,
"transcript": "XM_047438473.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1354,
"aa_ref": "A",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6041,
"cdna_start": 2106,
"cds_end": null,
"cds_length": 4065,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047438474.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2091T>A",
"hgvs_p": "p.Ala697Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294430.1",
"strand": true,
"transcript": "XM_047438474.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1346,
"aa_ref": "A",
"aa_start": 689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6146,
"cdna_start": 2211,
"cds_end": null,
"cds_length": 4041,
"cds_start": 2067,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047438475.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2067T>A",
"hgvs_p": "p.Ala689Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294431.1",
"strand": true,
"transcript": "XM_047438475.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1346,
"aa_ref": "A",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6017,
"cdna_start": 2109,
"cds_end": null,
"cds_length": 4041,
"cds_start": 2094,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047438476.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2094T>A",
"hgvs_p": "p.Ala698Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294432.1",
"strand": true,
"transcript": "XM_047438476.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1345,
"aa_ref": "A",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6014,
"cdna_start": 2106,
"cds_end": null,
"cds_length": 4038,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047438477.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2091T>A",
"hgvs_p": "p.Ala697Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294433.1",
"strand": true,
"transcript": "XM_047438477.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1340,
"aa_ref": "A",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6128,
"cdna_start": 2193,
"cds_end": null,
"cds_length": 4023,
"cds_start": 2049,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047438478.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2049T>A",
"hgvs_p": "p.Ala683Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294434.1",
"strand": true,
"transcript": "XM_047438478.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1339,
"aa_ref": "A",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6125,
"cdna_start": 2190,
"cds_end": null,
"cds_length": 4020,
"cds_start": 2046,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047438479.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2046T>A",
"hgvs_p": "p.Ala682Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294435.1",
"strand": true,
"transcript": "XM_047438479.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1339,
"aa_ref": "A",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5996,
"cdna_start": 2088,
"cds_end": null,
"cds_length": 4020,
"cds_start": 2073,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047438480.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2073T>A",
"hgvs_p": "p.Ala691Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294436.1",
"strand": true,
"transcript": "XM_047438480.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1338,
"aa_ref": "A",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6122,
"cdna_start": 2214,
"cds_end": null,
"cds_length": 4017,
"cds_start": 2070,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047438481.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2070T>A",
"hgvs_p": "p.Ala690Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294437.1",
"strand": true,
"transcript": "XM_047438481.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1338,
"aa_ref": "A",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5993,
"cdna_start": 2085,
"cds_end": null,
"cds_length": 4017,
"cds_start": 2070,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047438482.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2070T>A",
"hgvs_p": "p.Ala690Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294438.1",
"strand": true,
"transcript": "XM_047438482.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1330,
"aa_ref": "A",
"aa_start": 673,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6133,
"cdna_start": 2198,
"cds_end": null,
"cds_length": 3993,
"cds_start": 2019,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047438483.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2019T>A",
"hgvs_p": "p.Ala673Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294439.1",
"strand": true,
"transcript": "XM_047438483.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1330,
"aa_ref": "A",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6098,
"cdna_start": 2190,
"cds_end": null,
"cds_length": 3993,
"cds_start": 2046,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047438484.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2046T>A",
"hgvs_p": "p.Ala682Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294440.1",
"strand": true,
"transcript": "XM_047438484.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1321,
"aa_ref": "A",
"aa_start": 673,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6106,
"cdna_start": 2198,
"cds_end": null,
"cds_length": 3966,
"cds_start": 2019,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047438485.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.2019T>A",
"hgvs_p": "p.Ala673Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294441.1",
"strand": true,
"transcript": "XM_047438485.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 354,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000609494.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "n.-19T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000477109.1",
"strand": true,
"transcript": "ENST00000609494.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs541225",
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -5.985,
"pos": 18137336,
"ref": "T",
"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_001393501.1"
}
]
}