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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: 20-49117875-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=49117875&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 49117875,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001322932.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Ile471Val",
"transcript": "NM_017453.4",
"protein_id": "NP_059347.2",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 577,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": "ENST00000371856.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017453.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Ile471Val",
"transcript": "ENST00000371856.7",
"protein_id": "ENSP00000360922.2",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 577,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": "NM_017453.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371856.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1186A>G",
"hgvs_p": "p.Ile396Val",
"transcript": "ENST00000371828.7",
"protein_id": "ENSP00000360893.3",
"transcript_support_level": 1,
"aa_start": 396,
"aa_end": null,
"aa_length": 502,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371828.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1168A>G",
"hgvs_p": "p.Ile390Val",
"transcript": "ENST00000347458.9",
"protein_id": "ENSP00000323443.7",
"transcript_support_level": 1,
"aa_start": 390,
"aa_end": null,
"aa_length": 496,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 3136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347458.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1168A>G",
"hgvs_p": "p.Ile390Val",
"transcript": "ENST00000360426.8",
"protein_id": "ENSP00000353604.4",
"transcript_support_level": 1,
"aa_start": 390,
"aa_end": null,
"aa_length": 496,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 3211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360426.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1429A>G",
"hgvs_p": "p.Ile477Val",
"transcript": "NM_001322932.2",
"protein_id": "NP_001309861.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 583,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 3594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322932.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1429A>G",
"hgvs_p": "p.Ile477Val",
"transcript": "NM_001322933.2",
"protein_id": "NP_001309862.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 583,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 3669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322933.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Ile471Val",
"transcript": "NM_001319135.2",
"protein_id": "NP_001306064.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 577,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319135.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Ile471Val",
"transcript": "NM_001322929.2",
"protein_id": "NP_001309858.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 577,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 3774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322929.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Ile471Val",
"transcript": "NM_001322930.2",
"protein_id": "NP_001309859.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 577,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 3576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322930.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Ile471Val",
"transcript": "ENST00000851259.1",
"protein_id": "ENSP00000521318.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 577,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 3847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851259.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Ile471Val",
"transcript": "ENST00000851260.1",
"protein_id": "ENSP00000521319.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 577,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851260.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Ile471Val",
"transcript": "ENST00000851263.1",
"protein_id": "ENSP00000521322.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 577,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1811,
"cdna_end": null,
"cdna_length": 3671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851263.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Ile471Val",
"transcript": "ENST00000851265.1",
"protein_id": "ENSP00000521324.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 577,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 3187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851265.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Ile471Val",
"transcript": "ENST00000851266.1",
"protein_id": "ENSP00000521325.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 577,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 3564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851266.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Ile471Val",
"transcript": "ENST00000937852.1",
"protein_id": "ENSP00000607911.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 577,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937852.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Ile471Val",
"transcript": "ENST00000949039.1",
"protein_id": "ENSP00000619098.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 577,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 3696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949039.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Ile471Val",
"transcript": "ENST00000949040.1",
"protein_id": "ENSP00000619099.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 577,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949040.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Ile471Val",
"transcript": "ENST00000949041.1",
"protein_id": "ENSP00000619100.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 577,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949041.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Ile471Val",
"transcript": "ENST00000949042.1",
"protein_id": "ENSP00000619101.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 577,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949042.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Ile471Val",
"transcript": "ENST00000851261.1",
"protein_id": "ENSP00000521320.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 554,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851261.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Ile471Val",
"transcript": "ENST00000851262.1",
"protein_id": "ENSP00000521321.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 554,
"cds_start": 1411,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440423.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "STAU1",
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"hgvs_c": "c.1288A>G",
"hgvs_p": "p.Ile430Val",
"transcript": "XM_017028028.2",
"protein_id": "XP_016883517.1",
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"aa_start": 430,
"aa_end": null,
"aa_length": 536,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1769,
"cdna_end": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028028.2"
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
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"hgvs_c": "c.1288A>G",
"hgvs_p": "p.Ile430Val",
"transcript": "XM_047440424.1",
"protein_id": "XP_047296380.1",
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"aa_start": 430,
"aa_end": null,
"aa_length": 536,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 3561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440424.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"hgvs_c": "c.1186A>G",
"hgvs_p": "p.Ile396Val",
"transcript": "XM_005260527.1",
"protein_id": "XP_005260584.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 502,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260527.1"
}
],
"gene_symbol": "STAU1",
"gene_hgnc_id": 11370,
"dbsnp": "rs570607143",
"frequency_reference_population": 0.00007062436,
"hom_count_reference_population": 0,
"allele_count_reference_population": 114,
"gnomad_exomes_af": 0.0000697725,
"gnomad_genomes_af": 0.0000788022,
"gnomad_exomes_ac": 102,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05285760760307312,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.0761,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.824,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001322932.2",
"gene_symbol": "STAU1",
"hgnc_id": 11370,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1429A>G",
"hgvs_p": "p.Ile477Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}