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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: 9-137253370-GATGCACCCTTCTGGCTGGCCAACCCTTCT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137253370&ref=GATGCACCCTTCTGGCTGGCCAACCCTTCT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "STPG3",
"hgnc_id": 37285,
"hgvs_c": "c.1072_1100delCACCCTTCTGGCTGGCCAACCCTTCTATG",
"hgvs_p": "p.His358fs",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001256699.2",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "STPG3-AS1",
"hgnc_id": 51176,
"hgvs_c": "n.99_127delAGAAGGGTTGGCCAGCCAGAAGGGTGCAT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -10,
"transcript": "ENST00000612170.1",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "CIMIP2A",
"hgnc_id": 33818,
"hgvs_c": "c.-2764_-2736delAGAAGGGTTGGCCAGCCAGAAGGGTGCAT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -10,
"transcript": "XM_047423396.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BS1,BS2",
"acmg_score": -10,
"allele_count_reference_population": 4508,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 386,
"aa_ref": "HPSGWPTLLW",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1207,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1161,
"cds_start": 1072,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000388931.7",
"gene_hgnc_id": 37285,
"gene_symbol": "STPG3",
"hgvs_c": "c.1072_1100delCACCCTTCTGGCTGGCCAACCCTTCTATG",
"hgvs_p": "p.His358fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000373583.3",
"strand": true,
"transcript": "ENST00000388931.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 331,
"aa_ref": "HPSGWPTLLW",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1015,
"cdna_start": 908,
"cds_end": null,
"cds_length": 996,
"cds_start": 907,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000611378.4",
"gene_hgnc_id": 37285,
"gene_symbol": "STPG3",
"hgvs_c": "c.907_935delCACCCTTCTGGCTGGCCAACCCTTCTATG",
"hgvs_p": "p.His303fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477998.1",
"strand": true,
"transcript": "ENST00000611378.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 308,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1166,
"cdna_start": null,
"cds_end": null,
"cds_length": 927,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001004353.4",
"gene_hgnc_id": 37285,
"gene_symbol": "STPG3",
"hgvs_c": "c.*129_*157delCACCCTTCTGGCTGGCCAACCCTTCTATG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000412566.6",
"protein_coding": true,
"protein_id": "NP_001004353.2",
"strand": true,
"transcript": "NM_001004353.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 308,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1166,
"cdna_start": null,
"cds_end": null,
"cds_length": 927,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000412566.6",
"gene_hgnc_id": 37285,
"gene_symbol": "STPG3",
"hgvs_c": "c.*129_*157delCACCCTTCTGGCTGGCCAACCCTTCTATG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001004353.4",
"protein_coding": true,
"protein_id": "ENSP00000391218.1",
"strand": true,
"transcript": "ENST00000412566.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 253,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1025,
"cdna_start": null,
"cds_end": null,
"cds_length": 762,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000620243.4",
"gene_hgnc_id": 37285,
"gene_symbol": "STPG3",
"hgvs_c": "c.*129_*157delCACCCTTCTGGCTGGCCAACCCTTCTATG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482144.1",
"strand": true,
"transcript": "ENST00000620243.4",
"transcript_support_level": 1
},
{
"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": 948,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000620716.4",
"gene_hgnc_id": 37285,
"gene_symbol": "STPG3",
"hgvs_c": "n.*422_*450delCACCCTTCTGGCTGGCCAACCCTTCTATG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483862.1",
"strand": true,
"transcript": "ENST00000620716.4",
"transcript_support_level": 1
},
{
"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": 1012,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000622761.1",
"gene_hgnc_id": 37285,
"gene_symbol": "STPG3",
"hgvs_c": "n.*651_*679delCACCCTTCTGGCTGGCCAACCCTTCTATG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000478004.1",
"strand": true,
"transcript": "ENST00000622761.1",
"transcript_support_level": 1
},
{
"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": 948,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000620716.4",
"gene_hgnc_id": 37285,
"gene_symbol": "STPG3",
"hgvs_c": "n.*422_*450delCACCCTTCTGGCTGGCCAACCCTTCTATG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483862.1",
"strand": true,
"transcript": "ENST00000620716.4",
"transcript_support_level": 1
},
{
"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": 1012,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000622761.1",
"gene_hgnc_id": 37285,
"gene_symbol": "STPG3",
"hgvs_c": "n.*651_*679delCACCCTTCTGGCTGGCCAACCCTTCTATG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000478004.1",
"strand": true,
"transcript": "ENST00000622761.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 386,
"aa_ref": "HPSGWPTLLW",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1182,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 1161,
"cds_start": 1072,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001256699.2",
"gene_hgnc_id": 37285,
"gene_symbol": "STPG3",
"hgvs_c": "c.1072_1100delCACCCTTCTGGCTGGCCAACCCTTCTATG",
"hgvs_p": "p.His358fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243628.1",
"strand": true,
"transcript": "NM_001256699.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 331,
"aa_ref": "HPSGWPTLLW",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1017,
"cdna_start": 908,
"cds_end": null,
"cds_length": 996,
"cds_start": 907,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001256700.2",
"gene_hgnc_id": 37285,
"gene_symbol": "STPG3",
"hgvs_c": "c.907_935delCACCCTTCTGGCTGGCCAACCCTTCTATG",
"hgvs_p": "p.His303fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243629.1",
"strand": true,
"transcript": "NM_001256700.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 352,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5647,
"cdna_start": null,
"cds_end": null,
"cds_length": 1059,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047423396.1",
"gene_hgnc_id": 33818,
"gene_symbol": "CIMIP2A",
"hgvs_c": "c.-2764_-2736delAGAAGGGTTGGCCAGCCAGAAGGGTGCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279352.1",
"strand": false,
"transcript": "XM_047423396.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 352,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5245,
"cdna_start": null,
"cds_end": null,
"cds_length": 1059,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047423397.1",
"gene_hgnc_id": 33818,
"gene_symbol": "CIMIP2A",
"hgvs_c": "c.-2362_-2334delAGAAGGGTTGGCCAGCCAGAAGGGTGCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279353.1",
"strand": false,
"transcript": "XM_047423397.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 352,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5101,
"cdna_start": null,
"cds_end": null,
"cds_length": 1059,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047423398.1",
"gene_hgnc_id": 33818,
"gene_symbol": "CIMIP2A",
"hgvs_c": "c.-2218_-2190delAGAAGGGTTGGCCAGCCAGAAGGGTGCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279354.1",
"strand": false,
"transcript": "XM_047423398.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 352,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5097,
"cdna_start": null,
"cds_end": null,
"cds_length": 1059,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047423399.1",
"gene_hgnc_id": 33818,
"gene_symbol": "CIMIP2A",
"hgvs_c": "c.-2214_-2186delAGAAGGGTTGGCCAGCCAGAAGGGTGCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279355.1",
"strand": false,
"transcript": "XM_047423399.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 306,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5812,
"cdna_start": null,
"cds_end": null,
"cds_length": 921,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047423400.1",
"gene_hgnc_id": 33818,
"gene_symbol": "CIMIP2A",
"hgvs_c": "c.-3163_-3135delAGAAGGGTTGGCCAGCCAGAAGGGTGCAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279356.1",
"strand": false,
"transcript": "XM_047423400.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 253,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1001,
"cdna_start": null,
"cds_end": null,
"cds_length": 762,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001256701.2",
"gene_hgnc_id": 37285,
"gene_symbol": "STPG3",
"hgvs_c": "c.*129_*157delCACCCTTCTGGCTGGCCAACCCTTCTATG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243630.1",
"strand": true,
"transcript": "NM_001256701.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 249,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1168,
"cdna_start": null,
"cds_end": null,
"cds_length": 750,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000965010.1",
"gene_hgnc_id": 37285,
"gene_symbol": "STPG3",
"hgvs_c": "c.*129_*157delCACCCTTCTGGCTGGCCAACCCTTCTATG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635069.1",
"strand": true,
"transcript": "ENST00000965010.1",
"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": 1701,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000612170.1",
"gene_hgnc_id": 51176,
"gene_symbol": "STPG3-AS1",
"hgvs_c": "n.99_127delAGAAGGGTTGGCCAGCCAGAAGGGTGCAT",
"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": "ENST00000612170.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
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