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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: 9-128538058-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128538058&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128538058,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000309971.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1849G>A",
"hgvs_p": "p.Val617Met",
"transcript": "NM_001003722.2",
"protein_id": "NP_001003722.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 698,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": "ENST00000309971.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1849G>A",
"hgvs_p": "p.Val617Met",
"transcript": "ENST00000309971.9",
"protein_id": "ENSP00000308622.5",
"transcript_support_level": 1,
"aa_start": 617,
"aa_end": null,
"aa_length": 698,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": "NM_001003722.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1849G>A",
"hgvs_p": "p.Val617Met",
"transcript": "ENST00000372770.4",
"protein_id": "ENSP00000361856.4",
"transcript_support_level": 1,
"aa_start": 617,
"aa_end": null,
"aa_length": 659,
"cds_start": 1849,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Val626Met",
"transcript": "NM_001411013.1",
"protein_id": "NP_001397942.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 707,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Val626Met",
"transcript": "ENST00000683748.1",
"protein_id": "ENSP00000507377.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 707,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 3373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1849G>A",
"hgvs_p": "p.Val617Met",
"transcript": "ENST00000684331.1",
"protein_id": "ENSP00000507431.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 680,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1849G>A",
"hgvs_p": "p.Val617Met",
"transcript": "NM_001499.2",
"protein_id": "NP_001490.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 659,
"cds_start": 1849,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1636G>A",
"hgvs_p": "p.Val546Met",
"transcript": "ENST00000684646.1",
"protein_id": "ENSP00000507723.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 627,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Val462Met",
"transcript": "ENST00000684139.1",
"protein_id": "ENSP00000507295.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 543,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1885G>A",
"hgvs_p": "p.Val629Met",
"transcript": "XM_011518549.2",
"protein_id": "XP_011516851.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 710,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 3525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1885G>A",
"hgvs_p": "p.Val629Met",
"transcript": "XM_011518550.2",
"protein_id": "XP_011516852.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 710,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1858G>A",
"hgvs_p": "p.Val620Met",
"transcript": "XM_006717060.4",
"protein_id": "XP_006717123.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 701,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1858G>A",
"hgvs_p": "p.Val620Met",
"transcript": "XM_024447519.2",
"protein_id": "XP_024303287.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 701,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1858G>A",
"hgvs_p": "p.Val620Met",
"transcript": "XM_047423234.1",
"protein_id": "XP_047279190.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 701,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2902,
"cdna_end": null,
"cdna_length": 4268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Val376Met",
"transcript": "XM_047423235.1",
"protein_id": "XP_047279191.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 457,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1099G>A",
"hgvs_p": "p.Val367Met",
"transcript": "XM_047423236.1",
"protein_id": "XP_047279192.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 448,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.*920G>A",
"hgvs_p": null,
"transcript": "ENST00000683044.1",
"protein_id": "ENSP00000507095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.*1848G>A",
"hgvs_p": null,
"transcript": "ENST00000683288.1",
"protein_id": "ENSP00000507477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.*525G>A",
"hgvs_p": null,
"transcript": "ENST00000683905.1",
"protein_id": "ENSP00000506960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.1562G>A",
"hgvs_p": null,
"transcript": "ENST00000684210.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.487G>A",
"hgvs_p": null,
"transcript": "ENST00000684463.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.*920G>A",
"hgvs_p": null,
"transcript": "ENST00000683044.1",
"protein_id": "ENSP00000507095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.*1848G>A",
"hgvs_p": null,
"transcript": "ENST00000683288.1",
"protein_id": "ENSP00000507477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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}
],
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"computational_score_selected": 0.775727391242981,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3544,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.433,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"PP5_Moderate"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "GLE1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1849G>A",
"hgvs_p": "p.Val617Met"
},
{
"score": 5,
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"criteria": [
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"PP3",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_188457.1",
"gene_symbol": "LOC101929270",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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},
{
"score": 5,
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"PP3",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000434999.4",
"gene_symbol": "ENSG00000228395",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.434-1103C>T",
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}
],
"clinvar_disease": "Lethal arthrogryposis-anterior horn cell disease syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Lethal arthrogryposis-anterior horn cell disease syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}