← 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: 21-42388951-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=42388951&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "TMPRSS3",
"hgnc_id": 11877,
"hgvs_c": "c.-82C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_032404.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_score": -12,
"allele_count_reference_population": 198,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.77,
"chr": "21",
"clinvar_classification": "Likely benign",
"clinvar_disease": "TMPRSS3-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7699999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 453,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1362,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001256317.3",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000644384.2",
"protein_coding": true,
"protein_id": "NP_001243246.1",
"strand": false,
"transcript": "NM_001256317.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 453,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1362,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000644384.2",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001256317.3",
"protein_coding": true,
"protein_id": "ENSP00000494414.1",
"strand": false,
"transcript": "ENST00000644384.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 454,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1365,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000433957.7",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411013.3",
"strand": false,
"transcript": "ENST00000433957.7",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 344,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1342,
"cdna_start": 501,
"cds_end": null,
"cds_length": 1035,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000398397.3",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381434.3",
"strand": false,
"transcript": "ENST00000398397.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000474596.5",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "n.168C>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": "ENST00000474596.5",
"transcript_support_level": 1
},
{
"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": 2524,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000482761.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "n.587C>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": "ENST00000482761.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 327,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2136,
"cdna_start": null,
"cds_end": null,
"cds_length": 984,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_032404.3",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.-82C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_115780.1",
"strand": false,
"transcript": "NM_032404.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 455,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2469,
"cdna_start": 529,
"cds_end": null,
"cds_length": 1368,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896622.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566681.1",
"strand": false,
"transcript": "ENST00000896622.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 455,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 578,
"cds_end": null,
"cds_length": 1368,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896631.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566690.1",
"strand": false,
"transcript": "ENST00000896631.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 454,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1365,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_024022.4",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_076927.1",
"strand": false,
"transcript": "NM_024022.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 454,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": 529,
"cds_end": null,
"cds_length": 1365,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896621.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566680.1",
"strand": false,
"transcript": "ENST00000896621.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 454,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2589,
"cdna_start": 652,
"cds_end": null,
"cds_length": 1365,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896625.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566684.1",
"strand": false,
"transcript": "ENST00000896625.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 454,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2687,
"cdna_start": 749,
"cds_end": null,
"cds_length": 1365,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896629.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566688.1",
"strand": false,
"transcript": "ENST00000896629.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 454,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1808,
"cdna_start": 395,
"cds_end": null,
"cds_length": 1365,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896630.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566689.1",
"strand": false,
"transcript": "ENST00000896630.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 454,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 652,
"cds_end": null,
"cds_length": 1365,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957272.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627331.1",
"strand": false,
"transcript": "ENST00000957272.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 453,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2544,
"cdna_start": 652,
"cds_end": null,
"cds_length": 1362,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000652415.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498756.1",
"strand": false,
"transcript": "ENST00000652415.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 453,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2384,
"cdna_start": 400,
"cds_end": null,
"cds_length": 1362,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896627.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566686.1",
"strand": false,
"transcript": "ENST00000896627.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 453,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2739,
"cdna_start": 805,
"cds_end": null,
"cds_length": 1362,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896628.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566687.1",
"strand": false,
"transcript": "ENST00000896628.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 451,
"aa_ref": "D",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 820,
"cds_end": null,
"cds_length": 1356,
"cds_start": 294,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000398405.5",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.294C>T",
"hgvs_p": "p.Asp98Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381442.1",
"strand": false,
"transcript": "ENST00000398405.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 417,
"aa_ref": "D",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 331,
"cds_end": null,
"cds_length": 1254,
"cds_start": 189,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000957273.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.189C>T",
"hgvs_p": "p.Asp63Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627332.1",
"strand": false,
"transcript": "ENST00000957273.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 388,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": 504,
"cds_end": null,
"cds_length": 1167,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896623.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566682.1",
"strand": false,
"transcript": "ENST00000896623.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 387,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1164,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896624.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566683.1",
"strand": false,
"transcript": "ENST00000896624.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 387,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 627,
"cds_end": null,
"cds_length": 1164,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896626.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566685.1",
"strand": false,
"transcript": "ENST00000896626.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 344,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1303,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1035,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_032405.2",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Asp100Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_115781.1",
"strand": false,
"transcript": "NM_032405.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 327,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2136,
"cdna_start": null,
"cds_end": null,
"cds_length": 984,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_032404.3",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.-82C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_115780.1",
"strand": false,
"transcript": "NM_032404.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs146621712",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"frequency_reference_population": 0.0001226661,
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"gnomad_exomes_ac": 184,
"gnomad_exomes_af": 0.000125872,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 14,
"gnomad_genomes_af": 0.0000919045,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified|TMPRSS3-related disorder|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -2.221,
"pos": 42388951,
"ref": "G",
"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_032404.3"
}
]
}