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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: 9-81584467-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=81584467&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 81584467,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001303103.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2186A>G",
"hgvs_p": "p.Tyr729Cys",
"transcript": "NM_005077.5",
"protein_id": "NP_005068.2",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 770,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 3493,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": "ENST00000376499.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005077.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2186A>G",
"hgvs_p": "p.Tyr729Cys",
"transcript": "ENST00000376499.8",
"protein_id": "ENSP00000365682.3",
"transcript_support_level": 1,
"aa_start": 729,
"aa_end": null,
"aa_length": 770,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 3493,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": "NM_005077.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376499.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2321A>G",
"hgvs_p": "p.Tyr774Cys",
"transcript": "ENST00000946444.1",
"protein_id": "ENSP00000616503.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 815,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 3605,
"cdna_end": null,
"cdna_length": 3806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946444.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2288A>G",
"hgvs_p": "p.Tyr763Cys",
"transcript": "ENST00000946428.1",
"protein_id": "ENSP00000616487.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 804,
"cds_start": 2288,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 3694,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946428.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2285A>G",
"hgvs_p": "p.Tyr762Cys",
"transcript": "ENST00000946430.1",
"protein_id": "ENSP00000616489.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 803,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 3673,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946430.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2285A>G",
"hgvs_p": "p.Tyr762Cys",
"transcript": "ENST00000946435.1",
"protein_id": "ENSP00000616494.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 803,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 3578,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946435.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2282A>G",
"hgvs_p": "p.Tyr761Cys",
"transcript": "ENST00000946437.1",
"protein_id": "ENSP00000616496.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 802,
"cds_start": 2282,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 3566,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946437.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2243A>G",
"hgvs_p": "p.Tyr748Cys",
"transcript": "ENST00000946433.1",
"protein_id": "ENSP00000616492.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 789,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 3550,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946433.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.Tyr739Cys",
"transcript": "NM_001303103.2",
"protein_id": "NP_001290032.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 780,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 3523,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303103.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2213A>G",
"hgvs_p": "p.Tyr738Cys",
"transcript": "ENST00000946443.1",
"protein_id": "ENSP00000616502.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 779,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 3555,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946443.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2210A>G",
"hgvs_p": "p.Tyr737Cys",
"transcript": "ENST00000946442.1",
"protein_id": "ENSP00000616501.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 778,
"cds_start": 2210,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 3367,
"cdna_end": null,
"cdna_length": 4005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946442.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2183A>G",
"hgvs_p": "p.Tyr728Cys",
"transcript": "ENST00000946426.1",
"protein_id": "ENSP00000616485.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 769,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 3624,
"cdna_end": null,
"cdna_length": 5636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946426.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2183A>G",
"hgvs_p": "p.Tyr728Cys",
"transcript": "ENST00000946429.1",
"protein_id": "ENSP00000616488.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 769,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 3589,
"cdna_end": null,
"cdna_length": 4231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946429.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2180A>G",
"hgvs_p": "p.Tyr727Cys",
"transcript": "ENST00000946438.1",
"protein_id": "ENSP00000616497.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 768,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 3459,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946438.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2147A>G",
"hgvs_p": "p.Tyr716Cys",
"transcript": "ENST00000946432.1",
"protein_id": "ENSP00000616491.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 757,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 3453,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946432.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2141A>G",
"hgvs_p": "p.Tyr714Cys",
"transcript": "NM_001303104.2",
"protein_id": "NP_001290033.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 755,
"cds_start": 2141,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 3448,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303104.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2138A>G",
"hgvs_p": "p.Tyr713Cys",
"transcript": "ENST00000946436.1",
"protein_id": "ENSP00000616495.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 754,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 3425,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946436.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2123A>G",
"hgvs_p": "p.Tyr708Cys",
"transcript": "ENST00000946434.1",
"protein_id": "ENSP00000616493.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 749,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 3429,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946434.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2096A>G",
"hgvs_p": "p.Tyr699Cys",
"transcript": "ENST00000879081.1",
"protein_id": "ENSP00000549140.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 740,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 3423,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879081.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2093A>G",
"hgvs_p": "p.Tyr698Cys",
"transcript": "ENST00000879086.1",
"protein_id": "ENSP00000549145.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 739,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 3370,
"cdna_end": null,
"cdna_length": 4007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879086.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2066A>G",
"hgvs_p": "p.Tyr689Cys",
"transcript": "ENST00000879080.1",
"protein_id": "ENSP00000549139.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 730,
"cds_start": 2066,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 3393,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879080.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.2063A>G",
"hgvs_p": "p.Tyr688Cys",
"transcript": "ENST00000879084.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423817.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1730A>G",
"hgvs_p": "p.Tyr577Cys",
"transcript": "XM_047423818.1",
"protein_id": "XP_047279774.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 618,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1899,
"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": 15,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1582-162A>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"
}
],
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"dbsnp": "rs146295477",
"frequency_reference_population": 0.000014248721,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000129971,
"gnomad_genomes_af": 0.0000262619,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8188226819038391,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.45,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8921,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001303103.2",
"gene_symbol": "TLE1",
"hgnc_id": 11837,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.Tyr739Cys"
}
],
"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
}