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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: 9-81587745-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=81587745&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 81587745,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005077.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1913A>G",
"hgvs_p": "p.Asn638Ser",
"transcript": "NM_005077.5",
"protein_id": "NP_005068.2",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 770,
"cds_start": 1913,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 3220,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": "ENST00000376499.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1913A>G",
"hgvs_p": "p.Asn638Ser",
"transcript": "ENST00000376499.8",
"protein_id": "ENSP00000365682.3",
"transcript_support_level": 1,
"aa_start": 638,
"aa_end": null,
"aa_length": 770,
"cds_start": 1913,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 3220,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": "NM_005077.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1943A>G",
"hgvs_p": "p.Asn648Ser",
"transcript": "NM_001303103.2",
"protein_id": "NP_001290032.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 780,
"cds_start": 1943,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 3250,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Asn623Ser",
"transcript": "NM_001303104.2",
"protein_id": "NP_001290033.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 755,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 3175,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2045A>G",
"hgvs_p": "p.Asn682Ser",
"transcript": "XM_005252151.2",
"protein_id": "XP_005252208.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 814,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 3352,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2042A>G",
"hgvs_p": "p.Asn681Ser",
"transcript": "XM_005252152.2",
"protein_id": "XP_005252209.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 813,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 3349,
"cdna_end": null,
"cdna_length": 4264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2042A>G",
"hgvs_p": "p.Asn681Ser",
"transcript": "XM_006717258.2",
"protein_id": "XP_006717321.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 813,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 3349,
"cdna_end": null,
"cdna_length": 4264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2015A>G",
"hgvs_p": "p.Asn672Ser",
"transcript": "XM_005252153.2",
"protein_id": "XP_005252210.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 804,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 3322,
"cdna_end": null,
"cdna_length": 4237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2012A>G",
"hgvs_p": "p.Asn671Ser",
"transcript": "XM_005252154.2",
"protein_id": "XP_005252211.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 803,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 3319,
"cdna_end": null,
"cdna_length": 4234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1940A>G",
"hgvs_p": "p.Asn647Ser",
"transcript": "XM_005252156.4",
"protein_id": "XP_005252213.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 779,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 3247,
"cdna_end": null,
"cdna_length": 4162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1910A>G",
"hgvs_p": "p.Asn637Ser",
"transcript": "XM_006717262.2",
"protein_id": "XP_006717325.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 769,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1910A>G",
"hgvs_p": "p.Asn637Ser",
"transcript": "XM_011518951.3",
"protein_id": "XP_011517253.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 769,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1907A>G",
"hgvs_p": "p.Asn636Ser",
"transcript": "XM_006717263.2",
"protein_id": "XP_006717326.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 768,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 3214,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1877A>G",
"hgvs_p": "p.Asn626Ser",
"transcript": "XM_006717259.5",
"protein_id": "XP_006717322.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 758,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 3184,
"cdna_end": null,
"cdna_length": 4099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1823A>G",
"hgvs_p": "p.Asn608Ser",
"transcript": "XM_006717260.2",
"protein_id": "XP_006717323.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 740,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 3130,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1820A>G",
"hgvs_p": "p.Asn607Ser",
"transcript": "XM_047423813.1",
"protein_id": "XP_047279769.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 739,
"cds_start": 1820,
"cds_end": null,
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"cdna_start": 3127,
"cdna_end": null,
"cdna_length": 4042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1793A>G",
"hgvs_p": "p.Asn598Ser",
"transcript": "XM_005252162.2",
"protein_id": "XP_005252219.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 730,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 3100,
"cdna_end": null,
"cdna_length": 4015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1790A>G",
"hgvs_p": "p.Asn597Ser",
"transcript": "XM_047423814.1",
"protein_id": "XP_047279770.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 729,
"cds_start": 1790,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 3097,
"cdna_end": null,
"cdna_length": 4012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1721A>G",
"hgvs_p": "p.Asn574Ser",
"transcript": "XM_047423815.1",
"protein_id": "XP_047279771.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 706,
"cds_start": 1721,
"cds_end": null,
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"cdna_start": 3028,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1718A>G",
"hgvs_p": "p.Asn573Ser",
"transcript": "XM_047423816.1",
"protein_id": "XP_047279772.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 705,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 3025,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1700A>G",
"hgvs_p": "p.Asn567Ser",
"transcript": "XM_006717261.3",
"protein_id": "XP_006717324.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 699,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1691A>G",
"hgvs_p": "p.Asn564Ser",
"transcript": "XM_005252163.3",
"protein_id": "XP_005252220.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 696,
"cds_start": 1691,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2998,
"cdna_end": null,
"cdna_length": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
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"transcript": "XM_047423817.1",
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"aa_start": 563,
"aa_end": null,
"aa_length": 695,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2995,
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"cdna_length": 3910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "TLE1",
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"hgvs_c": "c.1457A>G",
"hgvs_p": "p.Asn486Ser",
"transcript": "XM_047423818.1",
"protein_id": "XP_047279774.1",
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"aa_start": 486,
"aa_end": null,
"aa_length": 618,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 2541,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000301585",
"gene_hgnc_id": null,
"hgvs_c": "n.82T>C",
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"transcript": "ENST00000779997.1",
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"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": 469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105376106",
"gene_hgnc_id": null,
"hgvs_c": "n.71T>C",
"hgvs_p": null,
"transcript": "XR_929992.3",
"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": 805,
"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": 1,
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"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105376106",
"gene_hgnc_id": null,
"hgvs_c": "n.71T>C",
"hgvs_p": null,
"transcript": "XR_929993.3",
"protein_id": null,
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"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": 410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7412894368171692,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.44,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2811,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005077.5",
"gene_symbol": "TLE1",
"hgnc_id": 11837,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1913A>G",
"hgvs_p": "p.Asn638Ser"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000779997.1",
"gene_symbol": "ENSG00000301585",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.82T>C",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_929992.3",
"gene_symbol": "LOC105376106",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.71T>C",
"hgvs_p": null
}
],
"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
}