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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: 19-56441805-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=56441805&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 56441805,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022103.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "NM_001321356.2",
"protein_id": "NP_001308285.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000504904.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321356.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000504904.8",
"protein_id": "ENSP00000439402.1",
"transcript_support_level": 2,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001321356.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504904.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000292069.10",
"protein_id": "ENSP00000292069.5",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292069.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "NM_022103.4",
"protein_id": "NP_071386.3",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022103.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000909113.1",
"protein_id": "ENSP00000579172.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909113.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000909114.1",
"protein_id": "ENSP00000579173.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909114.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000909115.1",
"protein_id": "ENSP00000579174.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909115.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000909116.1",
"protein_id": "ENSP00000579175.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909116.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000909117.1",
"protein_id": "ENSP00000579176.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909117.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000909118.1",
"protein_id": "ENSP00000579177.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909118.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000909119.1",
"protein_id": "ENSP00000579178.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909119.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000909120.1",
"protein_id": "ENSP00000579179.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909120.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000930969.1",
"protein_id": "ENSP00000601028.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930969.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000930970.1",
"protein_id": "ENSP00000601029.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930970.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000930971.1",
"protein_id": "ENSP00000601030.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930971.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000930972.1",
"protein_id": "ENSP00000601031.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930972.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000930973.1",
"protein_id": "ENSP00000601032.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930973.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000930974.1",
"protein_id": "ENSP00000601033.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930974.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000967614.1",
"protein_id": "ENSP00000637673.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967614.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000967615.1",
"protein_id": "ENSP00000637674.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967615.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000967616.1",
"protein_id": "ENSP00000637675.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967616.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "ENST00000967617.1",
"protein_id": "ENSP00000637676.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 610,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439210.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "XM_047439211.1",
"protein_id": "XP_047295167.1",
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"aa_start": 397,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047439211.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln",
"transcript": "XM_047439212.1",
"protein_id": "XP_047295168.1",
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"aa_start": 397,
"aa_end": null,
"aa_length": 610,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439212.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "c.*957G>A",
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"transcript": "ENST00000591790.5",
"protein_id": "ENSP00000468550.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": null,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591790.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "n.*1015G>A",
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"transcript": "ENST00000592189.5",
"protein_id": "ENSP00000467627.1",
"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": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000592189.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"hgvs_c": "n.*1015G>A",
"hgvs_p": null,
"transcript": "ENST00000592189.5",
"protein_id": "ENSP00000467627.1",
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"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": "ENST00000592189.5"
}
],
"gene_symbol": "ZNF667",
"gene_hgnc_id": 28854,
"dbsnp": "rs376752822",
"frequency_reference_population": 0.00002540556,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.000021208,
"gnomad_genomes_af": 0.0000657419,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.036004066467285156,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.2674,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.748,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_022103.4",
"gene_symbol": "ZNF667",
"hgnc_id": 28854,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Gln"
}
],
"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
}