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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: 6-35122238-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35122238&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 35122238,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001370687.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"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.457G>T",
"hgvs_p": "p.Ala153Ser",
"transcript": "NM_001370687.1",
"protein_id": "NP_001357616.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 503,
"cds_start": 457,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311875.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370687.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.457G>T",
"hgvs_p": "p.Ala153Ser",
"transcript": "ENST00000311875.11",
"protein_id": "ENSP00000308708.6",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 503,
"cds_start": 457,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001370687.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311875.11"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.457G>T",
"hgvs_p": "p.Ala153Ser",
"transcript": "ENST00000512012.5",
"protein_id": "ENSP00000425995.1",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 503,
"cds_start": 457,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512012.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.271G>T",
"hgvs_p": "p.Ala91Ser",
"transcript": "ENST00000244645.7",
"protein_id": "ENSP00000244645.3",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 441,
"cds_start": 271,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244645.7"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.268G>T",
"hgvs_p": "p.Ala90Ser",
"transcript": "ENST00000611141.4",
"protein_id": "ENSP00000478603.1",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 440,
"cds_start": 268,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.*425G>T",
"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": null,
"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.*537G>T",
"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": null,
"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.*522G>T",
"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": null,
"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.*425G>T",
"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": null,
"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.*537G>T",
"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": null,
"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.*522G>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000505911.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.496G>T",
"hgvs_p": "p.Ala166Ser",
"transcript": "ENST00000673754.1",
"protein_id": "ENSP00000501201.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 516,
"cds_start": 496,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673754.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.442G>T",
"hgvs_p": "p.Ala148Ser",
"transcript": "NM_001261817.2",
"protein_id": "NP_001248746.2",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 498,
"cds_start": 442,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261817.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.442G>T",
"hgvs_p": "p.Ala148Ser",
"transcript": "ENST00000444780.7",
"protein_id": "ENSP00000404479.3",
"transcript_support_level": 2,
"aa_start": 148,
"aa_end": null,
"aa_length": 498,
"cds_start": 442,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444780.7"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.358G>T",
"hgvs_p": "p.Ala120Ser",
"transcript": "NM_001261818.2",
"protein_id": "NP_001248747.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 470,
"cds_start": 358,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261818.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.358G>T",
"hgvs_p": "p.Ala120Ser",
"transcript": "ENST00000373974.8",
"protein_id": "ENSP00000363085.4",
"transcript_support_level": 2,
"aa_start": 120,
"aa_end": null,
"aa_length": 470,
"cds_start": 358,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373974.8"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.343G>T",
"hgvs_p": "p.Ala115Ser",
"transcript": "NM_001261819.2",
"protein_id": "NP_001248748.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 465,
"cds_start": 343,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261819.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.343G>T",
"hgvs_p": "p.Ala115Ser",
"transcript": "ENST00000412155.6",
"protein_id": "ENSP00000402816.2",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 465,
"cds_start": 343,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412155.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.271G>T",
"hgvs_p": "p.Ala91Ser",
"transcript": "NM_001366324.2",
"protein_id": "NP_001353253.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 441,
"cds_start": 271,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366324.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.271G>T",
"hgvs_p": "p.Ala91Ser",
"transcript": "NM_018679.6",
"protein_id": "NP_061149.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 441,
"cds_start": 271,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018679.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.271G>T",
"hgvs_p": "p.Ala91Ser",
"transcript": "ENST00000373979.6",
"protein_id": "ENSP00000363091.2",
"transcript_support_level": 5,
"aa_start": 91,
"aa_end": null,
"aa_length": 441,
"cds_start": 271,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373979.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.268G>T",
"hgvs_p": "p.Ala90Ser",
"transcript": "NM_001261820.2",
"protein_id": "NP_001248749.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 440,
"cds_start": 268,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261820.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
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],
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"exon_count": 6,
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},
{
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"protein_coding": true,
"strand": true,
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],
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"exon_count": 5,
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},
{
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"strand": true,
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],
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"feature": "ENST00000505400.5"
},
{
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"strand": true,
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],
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{
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],
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"transcript": "ENST00000505335.2",
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"feature": "ENST00000505335.2"
},
{
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"strand": true,
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"downstream_gene_variant"
],
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"gene_symbol": "TCP11",
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"transcript": "ENST00000509988.6",
"protein_id": "ENSP00000421386.2",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509988.6"
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],
"gene_symbol": "TCP11",
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"dbsnp": "rs375000730",
"frequency_reference_population": 0.000121434714,
"hom_count_reference_population": 0,
"allele_count_reference_population": 196,
"gnomad_exomes_af": 0.000125864,
"gnomad_genomes_af": 0.0000788716,
"gnomad_exomes_ac": 184,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3105071187019348,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.117,
"revel_prediction": "Benign",
"alphamissense_score": 0.0839,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.562,
"phylop100way_prediction": "Benign",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001370687.1",
"gene_symbol": "TCP11",
"hgnc_id": 11658,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.457G>T",
"hgvs_p": "p.Ala153Ser"
}
],
"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
}