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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: 11-62781934-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62781934&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62781934,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006473.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"transcript": "NM_006473.4",
"protein_id": "NP_006464.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 622,
"cds_start": 572,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000294168.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006473.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"transcript": "ENST00000294168.8",
"protein_id": "ENSP00000294168.3",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 622,
"cds_start": 572,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006473.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294168.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "n.674C>T",
"hgvs_p": null,
"transcript": "ENST00000524976.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000524976.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.680C>T",
"hgvs_p": "p.Ala227Val",
"transcript": "ENST00000853526.1",
"protein_id": "ENSP00000523585.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 658,
"cds_start": 680,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853526.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"transcript": "ENST00000853524.1",
"protein_id": "ENSP00000523583.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 622,
"cds_start": 572,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853524.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"transcript": "ENST00000853527.1",
"protein_id": "ENSP00000523586.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 622,
"cds_start": 572,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853527.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"transcript": "ENST00000936991.1",
"protein_id": "ENSP00000607050.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 622,
"cds_start": 572,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936991.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"transcript": "ENST00000936993.1",
"protein_id": "ENSP00000607052.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 622,
"cds_start": 572,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936993.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"transcript": "ENST00000936995.1",
"protein_id": "ENSP00000607054.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 622,
"cds_start": 572,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936995.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"transcript": "ENST00000936996.1",
"protein_id": "ENSP00000607055.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 622,
"cds_start": 572,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936996.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"transcript": "ENST00000936998.1",
"protein_id": "ENSP00000607057.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 622,
"cds_start": 572,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936998.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"transcript": "ENST00000853525.1",
"protein_id": "ENSP00000523584.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 619,
"cds_start": 572,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853525.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Ala182Val",
"transcript": "ENST00000936988.1",
"protein_id": "ENSP00000607047.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 613,
"cds_start": 545,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936988.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Ala182Val",
"transcript": "ENST00000936997.1",
"protein_id": "ENSP00000607056.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 613,
"cds_start": 545,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936997.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Ala174Val",
"transcript": "ENST00000936992.1",
"protein_id": "ENSP00000607051.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 605,
"cds_start": 521,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936992.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000936989.1",
"protein_id": "ENSP00000607048.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 598,
"cds_start": 500,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936989.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Ala151Val",
"transcript": "ENST00000936994.1",
"protein_id": "ENSP00000607053.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 582,
"cds_start": 452,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936994.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "ENST00000958840.1",
"protein_id": "ENSP00000628899.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 523,
"cds_start": 275,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958840.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Ala182Val",
"transcript": "XM_005273714.3",
"protein_id": "XP_005273771.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 613,
"cds_start": 545,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273714.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.532-179C>T",
"hgvs_p": null,
"transcript": "ENST00000853523.1",
"protein_id": "ENSP00000523582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": null,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853523.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"hgvs_c": "c.235-179C>T",
"hgvs_p": null,
"transcript": "ENST00000936990.1",
"protein_id": "ENSP00000607049.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": null,
"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": "ENST00000936990.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM223",
"gene_hgnc_id": 28464,
"hgvs_c": "c.314-7269G>A",
"hgvs_p": null,
"transcript": "ENST00000528367.1",
"protein_id": "ENSP00000431804.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": null,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528367.1"
},
{
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"canonical": false,
"protein_coding": true,
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],
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"biotype": "protein_coding",
"feature": "XM_047427579.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
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],
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "TMEM223",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "TMEM223",
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"transcript": "XM_047427581.1",
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"biotype": "protein_coding",
"feature": "XM_047427581.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 2,
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"gene_symbol": "TAF6L",
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"hgvs_c": "n.318C>T",
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"biotype": "retained_intron",
"feature": "ENST00000531265.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 2,
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"gene_symbol": "TAF6L",
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"hgvs_c": "n.209C>T",
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"transcript": "ENST00000533823.1",
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"biotype": "retained_intron",
"feature": "ENST00000533823.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "TMEM223",
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"hgvs_c": "n.66-7269G>A",
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"transcript": "ENST00000527073.1",
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"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": "pseudogene",
"feature": "ENST00000527073.1"
}
],
"gene_symbol": "TAF6L",
"gene_hgnc_id": 17305,
"dbsnp": "rs776824631",
"frequency_reference_population": 0.000001368107,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136811,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7304432988166809,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.217,
"revel_prediction": "Benign",
"alphamissense_score": 0.1699,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.311,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.2,
"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_006473.4",
"gene_symbol": "TAF6L",
"hgnc_id": 17305,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000528367.1",
"gene_symbol": "TMEM223",
"hgnc_id": 28464,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.314-7269G>A",
"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
}