← 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: 6-35122243-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35122243&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 35122243,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001370687.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.452A>G",
"hgvs_p": "p.His151Arg",
"transcript": "NM_001370687.1",
"protein_id": "NP_001357616.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 503,
"cds_start": 452,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": "ENST00000311875.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370687.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.452A>G",
"hgvs_p": "p.His151Arg",
"transcript": "ENST00000311875.11",
"protein_id": "ENSP00000308708.6",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 503,
"cds_start": 452,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": "NM_001370687.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311875.11"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.452A>G",
"hgvs_p": "p.His151Arg",
"transcript": "ENST00000512012.5",
"protein_id": "ENSP00000425995.1",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 503,
"cds_start": 452,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512012.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000244645.7",
"protein_id": "ENSP00000244645.3",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 441,
"cds_start": 266,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 2018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244645.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.His88Arg",
"transcript": "ENST00000611141.4",
"protein_id": "ENSP00000478603.1",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 440,
"cds_start": 263,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611141.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*420A>G",
"hgvs_p": null,
"transcript": "ENST00000455706.7",
"protein_id": "ENSP00000399012.3",
"transcript_support_level": 1,
"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": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000455706.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*532A>G",
"hgvs_p": null,
"transcript": "ENST00000504758.6",
"protein_id": "ENSP00000421916.2",
"transcript_support_level": 1,
"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": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000504758.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*517A>G",
"hgvs_p": null,
"transcript": "ENST00000505911.6",
"protein_id": "ENSP00000423293.2",
"transcript_support_level": 1,
"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": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000505911.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*420A>G",
"hgvs_p": null,
"transcript": "ENST00000455706.7",
"protein_id": "ENSP00000399012.3",
"transcript_support_level": 1,
"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": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000455706.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*532A>G",
"hgvs_p": null,
"transcript": "ENST00000504758.6",
"protein_id": "ENSP00000421916.2",
"transcript_support_level": 1,
"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": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000504758.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*517A>G",
"hgvs_p": null,
"transcript": "ENST00000505911.6",
"protein_id": "ENSP00000423293.2",
"transcript_support_level": 1,
"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": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000505911.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.His164Arg",
"transcript": "ENST00000673754.1",
"protein_id": "ENSP00000501201.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 516,
"cds_start": 491,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673754.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.437A>G",
"hgvs_p": "p.His146Arg",
"transcript": "NM_001261817.2",
"protein_id": "NP_001248746.2",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 498,
"cds_start": 437,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 1840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261817.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.437A>G",
"hgvs_p": "p.His146Arg",
"transcript": "ENST00000444780.7",
"protein_id": "ENSP00000404479.3",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 498,
"cds_start": 437,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444780.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.His118Arg",
"transcript": "NM_001261818.2",
"protein_id": "NP_001248747.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 470,
"cds_start": 353,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261818.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.His118Arg",
"transcript": "ENST00000373974.8",
"protein_id": "ENSP00000363085.4",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 470,
"cds_start": 353,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373974.8"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.His113Arg",
"transcript": "NM_001261819.2",
"protein_id": "NP_001248748.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 465,
"cds_start": 338,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261819.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.His113Arg",
"transcript": "ENST00000412155.6",
"protein_id": "ENSP00000402816.2",
"transcript_support_level": 2,
"aa_start": 113,
"aa_end": null,
"aa_length": 465,
"cds_start": 338,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412155.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "NM_001366324.2",
"protein_id": "NP_001353253.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 441,
"cds_start": 266,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366324.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "NM_018679.6",
"protein_id": "NP_061149.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 441,
"cds_start": 266,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018679.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000373979.6",
"protein_id": "ENSP00000363091.2",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 441,
"cds_start": 266,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373979.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.His88Arg",
"transcript": "NM_001261820.2",
"protein_id": "NP_001248749.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 440,
"cds_start": 263,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261820.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.His88Arg",
"transcript": "NM_001261821.2",
"protein_id": "NP_001248750.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 440,
"cds_start": 263,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 2046,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261821.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.His88Arg",
"transcript": "NM_001366323.2",
"protein_id": "NP_001353252.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 440,
"cds_start": 263,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366323.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.His88Arg",
"transcript": "ENST00000418521.6",
"protein_id": "ENSP00000415320.2",
"transcript_support_level": 5,
"aa_start": 88,
"aa_end": null,
"aa_length": 440,
"cds_start": 263,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418521.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.His113Arg",
"transcript": "NM_001366325.2",
"protein_id": "NP_001353254.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 399,
"cds_start": 338,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366325.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.His39Arg",
"transcript": "NM_001366326.2",
"protein_id": "NP_001353255.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 391,
"cds_start": 116,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 1840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366326.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.His10Arg",
"transcript": "NM_001366327.2",
"protein_id": "NP_001353256.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 362,
"cds_start": 29,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366327.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.His10Arg",
"transcript": "NM_001366328.2",
"protein_id": "NP_001353257.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 362,
"cds_start": 29,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366328.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.His10Arg",
"transcript": "NM_001366329.2",
"protein_id": "NP_001353258.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 362,
"cds_start": 29,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366329.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.His10Arg",
"transcript": "NM_001366330.2",
"protein_id": "NP_001353259.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 321,
"cds_start": 29,
"cds_end": null,
"cds_length": 966,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366330.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.His10Arg",
"transcript": "NM_001366332.2",
"protein_id": "NP_001353261.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 296,
"cds_start": 29,
"cds_end": null,
"cds_length": 891,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 1407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366332.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.His10Arg",
"transcript": "ENST00000486638.1",
"protein_id": "ENSP00000421103.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 220,
"cds_start": 29,
"cds_end": null,
"cds_length": 665,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486638.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000492680.6",
"protein_id": "ENSP00000422774.1",
"transcript_support_level": 4,
"aa_start": 89,
"aa_end": null,
"aa_length": 102,
"cds_start": 266,
"cds_end": null,
"cds_length": 310,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492680.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.404A>G",
"hgvs_p": "p.His135Arg",
"transcript": "XM_047419275.1",
"protein_id": "XP_047275231.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 487,
"cds_start": 404,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419275.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.His130Arg",
"transcript": "XM_047419276.1",
"protein_id": "XP_047275232.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 482,
"cds_start": 389,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 2041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419276.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.380A>G",
"hgvs_p": "p.His127Arg",
"transcript": "XM_047419277.1",
"protein_id": "XP_047275233.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 479,
"cds_start": 380,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419277.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.His164Arg",
"transcript": "XM_011514830.3",
"protein_id": "XP_011513132.2",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 475,
"cds_start": 491,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514830.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.His10Arg",
"transcript": "XM_011514832.2",
"protein_id": "XP_011513134.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 362,
"cds_start": 29,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514832.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.His10Arg",
"transcript": "XM_047419278.1",
"protein_id": "XP_047275234.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 362,
"cds_start": 29,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419278.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.-291A>G",
"hgvs_p": null,
"transcript": "NM_001366331.2",
"protein_id": "NP_001353260.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": null,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366331.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*109A>G",
"hgvs_p": null,
"transcript": "ENST00000427376.7",
"protein_id": "ENSP00000415562.3",
"transcript_support_level": 5,
"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": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000427376.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*109A>G",
"hgvs_p": null,
"transcript": "ENST00000469514.6",
"protein_id": "ENSP00000422259.2",
"transcript_support_level": 2,
"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": 970,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000469514.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.351A>G",
"hgvs_p": null,
"transcript": "NR_158873.2",
"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": 1387,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_158873.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.463A>G",
"hgvs_p": null,
"transcript": "NR_158874.2",
"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": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_158874.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*109A>G",
"hgvs_p": null,
"transcript": "ENST00000427376.7",
"protein_id": "ENSP00000415562.3",
"transcript_support_level": 5,
"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": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000427376.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*109A>G",
"hgvs_p": null,
"transcript": "ENST00000469514.6",
"protein_id": "ENSP00000422259.2",
"transcript_support_level": 2,
"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": 970,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000469514.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.*9A>G",
"hgvs_p": null,
"transcript": "ENST00000507706.5",
"protein_id": "ENSP00000423183.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": null,
"cds_end": null,
"cds_length": 254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507706.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "c.*54A>G",
"hgvs_p": null,
"transcript": "ENST00000505400.5",
"protein_id": "ENSP00000421333.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": null,
"cds_end": null,
"cds_length": 209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505400.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*658A>G",
"hgvs_p": null,
"transcript": "ENST00000479418.7",
"protein_id": "ENSP00000425849.2",
"transcript_support_level": 3,
"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": 758,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000479418.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*321A>G",
"hgvs_p": null,
"transcript": "ENST00000505335.2",
"protein_id": "ENSP00000424209.2",
"transcript_support_level": 4,
"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": 474,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000505335.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"hgvs_c": "n.*331A>G",
"hgvs_p": null,
"transcript": "ENST00000509988.6",
"protein_id": "ENSP00000421386.2",
"transcript_support_level": 4,
"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": 576,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509988.6"
}
],
"gene_symbol": "TCP11",
"gene_hgnc_id": 11658,
"dbsnp": "rs768848363",
"frequency_reference_population": 0.0000012391021,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84046e-7,
"gnomad_genomes_af": 0.00000657108,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16389238834381104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.0625,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.635,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001370687.1",
"gene_symbol": "TCP11",
"hgnc_id": 11658,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.452A>G",
"hgvs_p": "p.His151Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}