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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: X-46472872-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=46472872&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 46472872,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001129898.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRABD4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.376T>G",
"hgvs_p": "p.Cys126Gly",
"transcript": "NM_001129898.2",
"protein_id": "NP_001123370.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 171,
"cds_start": 376,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344302.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001129898.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.376T>G",
"hgvs_p": "p.Cys126Gly",
"transcript": "ENST00000344302.9",
"protein_id": "ENSP00000345797.4",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 171,
"cds_start": 376,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001129898.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344302.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.*120T>G",
"hgvs_p": null,
"transcript": "ENST00000487081.1",
"protein_id": "ENSP00000418076.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": null,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487081.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.400T>G",
"hgvs_p": "p.Cys134Gly",
"transcript": "ENST00000942305.1",
"protein_id": "ENSP00000612364.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 179,
"cds_start": 400,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942305.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.397T>G",
"hgvs_p": "p.Cys133Gly",
"transcript": "ENST00000932356.1",
"protein_id": "ENSP00000602415.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 178,
"cds_start": 397,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932356.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.376T>G",
"hgvs_p": "p.Cys126Gly",
"transcript": "ENST00000901197.1",
"protein_id": "ENSP00000571256.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 171,
"cds_start": 376,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901197.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.376T>G",
"hgvs_p": "p.Cys126Gly",
"transcript": "ENST00000901199.1",
"protein_id": "ENSP00000571258.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 171,
"cds_start": 376,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901199.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.376T>G",
"hgvs_p": "p.Cys126Gly",
"transcript": "ENST00000901202.1",
"protein_id": "ENSP00000571261.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 171,
"cds_start": 376,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901202.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.376T>G",
"hgvs_p": "p.Cys126Gly",
"transcript": "ENST00000901205.1",
"protein_id": "ENSP00000571264.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 171,
"cds_start": 376,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901205.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.376T>G",
"hgvs_p": "p.Cys126Gly",
"transcript": "ENST00000932357.1",
"protein_id": "ENSP00000602416.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 171,
"cds_start": 376,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932357.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.373T>G",
"hgvs_p": "p.Cys125Gly",
"transcript": "ENST00000901198.1",
"protein_id": "ENSP00000571257.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 170,
"cds_start": 373,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901198.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.373T>G",
"hgvs_p": "p.Cys125Gly",
"transcript": "ENST00000942306.1",
"protein_id": "ENSP00000612365.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 170,
"cds_start": 373,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942306.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRABD4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.361T>G",
"hgvs_p": "p.Cys121Gly",
"transcript": "NM_017776.3",
"protein_id": "NP_060246.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 166,
"cds_start": 361,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017776.3"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.361T>G",
"hgvs_p": "p.Cys121Gly",
"transcript": "ENST00000298190.10",
"protein_id": "ENSP00000298190.6",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 166,
"cds_start": 361,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298190.10"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.361T>G",
"hgvs_p": "p.Cys121Gly",
"transcript": "ENST00000901194.1",
"protein_id": "ENSP00000571253.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 166,
"cds_start": 361,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901194.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.361T>G",
"hgvs_p": "p.Cys121Gly",
"transcript": "ENST00000901196.1",
"protein_id": "ENSP00000571255.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 166,
"cds_start": 361,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901196.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.361T>G",
"hgvs_p": "p.Cys121Gly",
"transcript": "ENST00000901200.1",
"protein_id": "ENSP00000571259.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 166,
"cds_start": 361,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901200.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.361T>G",
"hgvs_p": "p.Cys121Gly",
"transcript": "ENST00000901201.1",
"protein_id": "ENSP00000571260.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 166,
"cds_start": 361,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901201.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.361T>G",
"hgvs_p": "p.Cys121Gly",
"transcript": "ENST00000901204.1",
"protein_id": "ENSP00000571263.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 166,
"cds_start": 361,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901204.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.361T>G",
"hgvs_p": "p.Cys121Gly",
"transcript": "ENST00000932355.1",
"protein_id": "ENSP00000602414.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 166,
"cds_start": 361,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932355.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.361T>G",
"hgvs_p": "p.Cys121Gly",
"transcript": "ENST00000942304.1",
"protein_id": "ENSP00000612363.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 166,
"cds_start": 361,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942304.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.361T>G",
"hgvs_p": "p.Cys121Gly",
"transcript": "ENST00000942307.1",
"protein_id": "ENSP00000612366.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 166,
"cds_start": 361,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942307.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"gene_symbol": "KRBOX4",
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"hgvs_p": "p.Cys120Gly",
"transcript": "ENST00000901195.1",
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"aa_start": 120,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000901195.1"
},
{
"aa_ref": "C",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
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"exon_count": 6,
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"gene_symbol": "KRBOX4",
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"hgvs_c": "c.358T>G",
"hgvs_p": "p.Cys120Gly",
"transcript": "ENST00000901203.1",
"protein_id": "ENSP00000571262.1",
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"aa_start": 120,
"aa_end": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000901203.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "KRBOX4",
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"hgvs_c": "c.358T>G",
"hgvs_p": "p.Cys120Gly",
"transcript": "ENST00000932354.1",
"protein_id": "ENSP00000602413.1",
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"aa_start": 120,
"aa_end": null,
"aa_length": 165,
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"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932354.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "KRABD4",
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"hgvs_c": "c.*123T>G",
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"transcript": "NM_001129899.2",
"protein_id": "NP_001123371.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": null,
"cds_end": null,
"cds_length": 297,
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"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001129899.2"
},
{
"aa_ref": null,
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 7,
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"gene_symbol": "KRABD4",
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"hgvs_c": "c.*123T>G",
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"transcript": "NM_001129900.2",
"protein_id": "NP_001123372.1",
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"aa_length": 93,
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"cds_end": null,
"cds_length": 282,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001129900.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
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"gene_symbol": "KRBOX4",
"gene_hgnc_id": 26007,
"hgvs_c": "c.238+9579T>G",
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"transcript": "ENST00000478600.5",
"protein_id": "ENSP00000418146.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478600.5"
}
],
"gene_symbol": "KRABD4",
"gene_hgnc_id": 26007,
"dbsnp": "rs996998674",
"frequency_reference_population": 0.000008945824,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.10591e-7,
"gnomad_genomes_af": 0.00000894582,
"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": 0.28674203157424927,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.118,
"revel_prediction": "Benign",
"alphamissense_score": 0.1184,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.951,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001129898.2",
"gene_symbol": "KRABD4",
"hgnc_id": 26007,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.376T>G",
"hgvs_p": "p.Cys126Gly"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000344302.9",
"gene_symbol": "KRBOX4",
"hgnc_id": 26007,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.376T>G",
"hgvs_p": "p.Cys126Gly"
}
],
"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
}