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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: 5-69365523-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=69365523&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 69365523,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003187.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "NM_003187.5",
"protein_id": "NP_003178.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000217893.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003187.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "ENST00000217893.10",
"protein_id": "ENSP00000217893.7",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003187.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000217893.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "ENST00000506736.2",
"protein_id": "ENSP00000421873.1",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506736.2"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AK6",
"gene_hgnc_id": 49151,
"hgvs_c": "c.121+980G>A",
"hgvs_p": null,
"transcript": "NM_016283.5",
"protein_id": "NP_057367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380822.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016283.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AK6",
"gene_hgnc_id": 49151,
"hgvs_c": "c.121+980G>A",
"hgvs_p": null,
"transcript": "ENST00000380822.9",
"protein_id": "ENSP00000370201.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016283.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380822.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "NM_001015892.2",
"protein_id": "NP_001015892.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001015892.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "ENST00000328663.8",
"protein_id": "ENSP00000370193.1",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328663.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "ENST00000503245.6",
"protein_id": "ENSP00000425944.4",
"transcript_support_level": 5,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503245.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "ENST00000504109.6",
"protein_id": "ENSP00000426283.2",
"transcript_support_level": 3,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504109.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "ENST00000508954.4",
"protein_id": "ENSP00000427617.4",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508954.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "ENST00000509462.6",
"protein_id": "ENSP00000427343.4",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509462.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "ENST00000512152.6",
"protein_id": "ENSP00000425798.4",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512152.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "ENST00000687836.1",
"protein_id": "ENSP00000509753.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687836.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "ENST00000688968.1",
"protein_id": "ENSP00000510364.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688968.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "ENST00000689249.1",
"protein_id": "ENSP00000508645.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689249.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "ENST00000690749.1",
"protein_id": "ENSP00000510605.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690749.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "ENST00000691076.1",
"protein_id": "ENSP00000509913.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691076.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "ENST00000691515.1",
"protein_id": "ENSP00000509452.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691515.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "ENST00000691555.1",
"protein_id": "ENSP00000510101.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691555.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "ENST00000693414.1",
"protein_id": "ENSP00000509848.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693414.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF9",
"gene_hgnc_id": 11542,
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln",
"transcript": "ENST00000926367.1",
"protein_id": "ENSP00000596426.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 264,
"cds_start": 215,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926367.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AK6",
"gene_hgnc_id": 49151,
"hgvs_c": "c.112+980G>A",
"hgvs_p": null,
"transcript": "NM_001015891.2",
"protein_id": "NP_001015891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": null,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001015891.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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"consequences": [
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},
{
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"consequences": [
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],
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"feature": "ENST00000512561.5"
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{
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"biotype": "protein_coding",
"feature": "ENST00000618980.1"
},
{
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],
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"gene_symbol": "AK6",
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"transcript": "ENST00000502819.5",
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{
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"strand": false,
"consequences": [
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],
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"feature": "ENST00000685776.1"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"feature": "ENST00000686157.1"
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{
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],
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"gene_symbol": "TAF9",
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"biotype": "retained_intron",
"feature": "ENST00000687205.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 2,
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"gene_symbol": "TAF9",
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"hgvs_c": "n.1426G>A",
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"transcript": "ENST00000693538.1",
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"biotype": "retained_intron",
"feature": "ENST00000693538.1"
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],
"gene_symbol": "TAF9",
"gene_hgnc_id": 11542,
"dbsnp": "rs750191393",
"frequency_reference_population": 0.000024169829,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000253179,
"gnomad_genomes_af": 0.0000131437,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5199634432792664,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.194,
"revel_prediction": "Benign",
"alphamissense_score": 0.3029,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.905,
"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": 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_003187.5",
"gene_symbol": "TAF9",
"hgnc_id": 11542,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.215G>A",
"hgvs_p": "p.Arg72Gln"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016283.5",
"gene_symbol": "AK6",
"hgnc_id": 49151,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.121+980G>A",
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}
],
"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
}