← 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: 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_001303103.2",
"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": "protein_coding",
"feature": "NM_005077.5"
},
{
"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": "protein_coding",
"feature": "ENST00000376499.8"
},
{
"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.2048A>G",
"hgvs_p": "p.Asn683Ser",
"transcript": "ENST00000946444.1",
"protein_id": "ENSP00000616503.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 815,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 3332,
"cdna_end": null,
"cdna_length": 3806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946444.1"
},
{
"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": "ENST00000946428.1",
"protein_id": "ENSP00000616487.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 804,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 3421,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946428.1"
},
{
"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": "ENST00000946430.1",
"protein_id": "ENSP00000616489.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 803,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 3400,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946430.1"
},
{
"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": "ENST00000946435.1",
"protein_id": "ENSP00000616494.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 803,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 3305,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946435.1"
},
{
"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.2009A>G",
"hgvs_p": "p.Asn670Ser",
"transcript": "ENST00000946437.1",
"protein_id": "ENSP00000616496.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 802,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 3293,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946437.1"
},
{
"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.1970A>G",
"hgvs_p": "p.Asn657Ser",
"transcript": "ENST00000946433.1",
"protein_id": "ENSP00000616492.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 789,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 3277,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946433.1"
},
{
"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": "protein_coding",
"feature": "NM_001303103.2"
},
{
"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": "ENST00000946443.1",
"protein_id": "ENSP00000616502.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 779,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 3282,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946443.1"
},
{
"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.1937A>G",
"hgvs_p": "p.Asn646Ser",
"transcript": "ENST00000946442.1",
"protein_id": "ENSP00000616501.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 778,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 3094,
"cdna_end": null,
"cdna_length": 4005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946442.1"
},
{
"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": "ENST00000946426.1",
"protein_id": "ENSP00000616485.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 769,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 3351,
"cdna_end": null,
"cdna_length": 5636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946426.1"
},
{
"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": "ENST00000946429.1",
"protein_id": "ENSP00000616488.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 769,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 4231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946429.1"
},
{
"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": "ENST00000946438.1",
"protein_id": "ENSP00000616497.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 768,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 3186,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946438.1"
},
{
"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.1874A>G",
"hgvs_p": "p.Asn625Ser",
"transcript": "ENST00000946432.1",
"protein_id": "ENSP00000616491.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 757,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 3180,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946432.1"
},
{
"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": "protein_coding",
"feature": "NM_001303104.2"
},
{
"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.1865A>G",
"hgvs_p": "p.Asn622Ser",
"transcript": "ENST00000946436.1",
"protein_id": "ENSP00000616495.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 754,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 3152,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946436.1"
},
{
"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.1850A>G",
"hgvs_p": "p.Asn617Ser",
"transcript": "ENST00000946434.1",
"protein_id": "ENSP00000616493.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 749,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 3156,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946434.1"
},
{
"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": "ENST00000879081.1",
"protein_id": "ENSP00000549140.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 740,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 3150,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879081.1"
},
{
"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": "ENST00000879086.1",
"protein_id": "ENSP00000549145.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 739,
"cds_start": 1820,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 3097,
"cdna_end": null,
"cdna_length": 4007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879086.1"
},
{
"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": "ENST00000879080.1",
"protein_id": "ENSP00000549139.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 730,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 3120,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879080.1"
},
{
"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": "ENST00000879084.1",
"protein_id": "ENSP00000549143.1",
"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": 4007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879084.1"
},
{
"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.1775A>G",
"hgvs_p": "p.Asn592Ser",
"transcript": "ENST00000946427.1",
"protein_id": "ENSP00000616486.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 724,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 3201,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946427.1"
},
{
"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.1772A>G",
"hgvs_p": "p.Asn591Ser",
"transcript": "ENST00000946445.1",
"protein_id": "ENSP00000616504.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 723,
"cds_start": 1772,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2970,
"cdna_end": null,
"cdna_length": 3448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946445.1"
},
{
"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.1763A>G",
"hgvs_p": "p.Asn588Ser",
"transcript": "ENST00000879088.1",
"protein_id": "ENSP00000549147.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 720,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 3070,
"cdna_end": null,
"cdna_length": 3539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879088.1"
},
{
"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.1748A>G",
"hgvs_p": "p.Asn583Ser",
"transcript": "ENST00000879087.1",
"protein_id": "ENSP00000549146.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 715,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 3055,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879087.1"
},
{
"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.1745A>G",
"hgvs_p": "p.Asn582Ser",
"transcript": "ENST00000925497.1",
"protein_id": "ENSP00000595556.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 714,
"cds_start": 1745,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 3021,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925497.1"
},
{
"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.1730A>G",
"hgvs_p": "p.Asn577Ser",
"transcript": "ENST00000879092.1",
"protein_id": "ENSP00000549151.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 709,
"cds_start": 1730,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879092.1"
},
{
"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": "ENST00000879082.1",
"protein_id": "ENSP00000549141.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 706,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 3040,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879082.1"
},
{
"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": "ENST00000879090.1",
"protein_id": "ENSP00000549149.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 705,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879090.1"
},
{
"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": "ENST00000879083.1",
"protein_id": "ENSP00000549142.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 696,
"cds_start": 1691,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 3003,
"cdna_end": null,
"cdna_length": 3918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879083.1"
},
{
"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.1688A>G",
"hgvs_p": "p.Asn563Ser",
"transcript": "ENST00000879085.1",
"protein_id": "ENSP00000549144.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 695,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2983,
"cdna_end": null,
"cdna_length": 3898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879085.1"
},
{
"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.1679A>G",
"hgvs_p": "p.Asn560Ser",
"transcript": "ENST00000925494.1",
"protein_id": "ENSP00000595553.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 692,
"cds_start": 1679,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2956,
"cdna_end": null,
"cdna_length": 3871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925494.1"
},
{
"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.1673A>G",
"hgvs_p": "p.Asn558Ser",
"transcript": "ENST00000925492.1",
"protein_id": "ENSP00000595551.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 690,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 2980,
"cdna_end": null,
"cdna_length": 3892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925492.1"
},
{
"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.1658A>G",
"hgvs_p": "p.Asn553Ser",
"transcript": "ENST00000925498.1",
"protein_id": "ENSP00000595557.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 685,
"cds_start": 1658,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 2906,
"cdna_end": null,
"cdna_length": 3818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925498.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Asn552Ser",
"transcript": "ENST00000879089.1",
"protein_id": "ENSP00000549148.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 684,
"cds_start": 1655,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2957,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879089.1"
},
{
"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.1655A>G",
"hgvs_p": "p.Asn552Ser",
"transcript": "ENST00000925488.1",
"protein_id": "ENSP00000595547.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 684,
"cds_start": 1655,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2962,
"cdna_end": null,
"cdna_length": 4143,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925488.1"
},
{
"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.1652A>G",
"hgvs_p": "p.Asn551Ser",
"transcript": "ENST00000925489.1",
"protein_id": "ENSP00000595548.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 683,
"cds_start": 1652,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2971,
"cdna_end": null,
"cdna_length": 3886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925489.1"
},
{
"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.1643A>G",
"hgvs_p": "p.Asn548Ser",
"transcript": "ENST00000879091.1",
"protein_id": "ENSP00000549150.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 680,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879091.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1628A>G",
"hgvs_p": "p.Asn543Ser",
"transcript": "ENST00000925495.1",
"protein_id": "ENSP00000595554.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 675,
"cds_start": 1628,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 2905,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925495.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.Asn539Ser",
"transcript": "ENST00000925490.1",
"protein_id": "ENSP00000595549.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 671,
"cds_start": 1616,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2923,
"cdna_end": null,
"cdna_length": 3838,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925490.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Asn518Ser",
"transcript": "ENST00000879079.1",
"protein_id": "ENSP00000549138.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 650,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 2906,
"cdna_end": null,
"cdna_length": 3821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879079.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1550A>G",
"hgvs_p": "p.Asn517Ser",
"transcript": "ENST00000925491.1",
"protein_id": "ENSP00000595550.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 649,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2857,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925491.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1469A>G",
"hgvs_p": "p.Asn490Ser",
"transcript": "ENST00000925496.1",
"protein_id": "ENSP00000595555.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 622,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 2745,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925496.1"
},
{
"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.1382A>G",
"hgvs_p": "p.Asn461Ser",
"transcript": "ENST00000946439.1",
"protein_id": "ENSP00000616498.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 593,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 2655,
"cdna_end": null,
"cdna_length": 3565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946439.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1343A>G",
"hgvs_p": "p.Asn448Ser",
"transcript": "ENST00000946440.1",
"protein_id": "ENSP00000616499.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 580,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 2608,
"cdna_end": null,
"cdna_length": 3512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946440.1"
},
{
"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",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "ENST00000946441.1",
"protein_id": "ENSP00000616500.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 484,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 2215,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946441.1"
},
{
"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": "protein_coding",
"feature": "XM_005252151.2"
},
{
"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": "protein_coding",
"feature": "XM_005252152.2"
},
{
"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": "protein_coding",
"feature": "XM_006717258.2"
},
{
"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": "protein_coding",
"feature": "XM_005252153.2"
},
{
"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": "protein_coding",
"feature": "XM_005252154.2"
},
{
"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": "protein_coding",
"feature": "XM_005252156.4"
},
{
"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": "protein_coding",
"feature": "XM_006717262.2"
},
{
"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": "protein_coding",
"feature": "XM_011518951.3"
},
{
"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": "protein_coding",
"feature": "XM_006717263.2"
},
{
"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": "protein_coding",
"feature": "XM_006717259.5"
},
{
"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": "protein_coding",
"feature": "XM_006717260.2"
},
{
"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,
"cds_length": 2220,
"cdna_start": 3127,
"cdna_end": null,
"cdna_length": 4042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423813.1"
},
{
"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": "protein_coding",
"feature": "XM_005252162.2"
},
{
"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": "protein_coding",
"feature": "XM_047423814.1"
},
{
"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,
"cds_length": 2121,
"cdna_start": 3028,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423815.1"
},
{
"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": "protein_coding",
"feature": "XM_047423816.1"
},
{
"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": "protein_coding",
"feature": "XM_006717261.3"
},
{
"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": "protein_coding",
"feature": "XM_005252163.3"
},
{
"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.1688A>G",
"hgvs_p": "p.Asn563Ser",
"transcript": "XM_047423817.1",
"protein_id": "XP_047279773.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 695,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2995,
"cdna_end": null,
"cdna_length": 3910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423817.1"
},
{
"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",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1457A>G",
"hgvs_p": "p.Asn486Ser",
"transcript": "XM_047423818.1",
"protein_id": "XP_047279774.1",
"transcript_support_level": null,
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423818.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1360-2090A>G",
"hgvs_p": null,
"transcript": "ENST00000925493.1",
"protein_id": "ENSP00000595552.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 564,
"cds_start": null,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925493.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1582-3440A>G",
"hgvs_p": null,
"transcript": "ENST00000946431.1",
"protein_id": "ENSP00000616490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": null,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946431.1"
},
{
"aa_ref": null,
"aa_alt": null,
"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": "ENSG00000301585",
"gene_hgnc_id": null,
"hgvs_c": "n.82T>C",
"hgvs_p": null,
"transcript": "ENST00000779997.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 469,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000779997.1"
},
{
"aa_ref": null,
"aa_alt": null,
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 805,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_929992.3"
},
{
"aa_ref": null,
"aa_alt": null,
"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_929993.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 410,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_929993.3"
}
],
"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_001303103.2",
"gene_symbol": "TLE1",
"hgnc_id": 11837,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1943A>G",
"hgvs_p": "p.Asn648Ser"
},
{
"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
}