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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: 1-212951723-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=212951723&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 212951723,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001301056.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr",
"transcript": "NM_001301056.2",
"protein_id": "NP_001287985.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 355,
"cds_start": 181,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000517399.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301056.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr",
"transcript": "ENST00000517399.3",
"protein_id": "ENSP00000428324.1",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 355,
"cds_start": 181,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001301056.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517399.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr",
"transcript": "ENST00000366965.6",
"protein_id": "ENSP00000355932.2",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 311,
"cds_start": 181,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366965.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr",
"transcript": "ENST00000917486.1",
"protein_id": "ENSP00000587545.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 417,
"cds_start": 181,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917486.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr",
"transcript": "ENST00000917490.1",
"protein_id": "ENSP00000587549.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 372,
"cds_start": 181,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917490.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr",
"transcript": "ENST00000917479.1",
"protein_id": "ENSP00000587538.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 355,
"cds_start": 181,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917479.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr",
"transcript": "ENST00000917482.1",
"protein_id": "ENSP00000587541.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 355,
"cds_start": 181,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917482.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr",
"transcript": "ENST00000917484.1",
"protein_id": "ENSP00000587543.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 355,
"cds_start": 181,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917484.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr",
"transcript": "NM_024749.5",
"protein_id": "NP_079025.2",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 311,
"cds_start": 181,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024749.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr",
"transcript": "ENST00000917481.1",
"protein_id": "ENSP00000587540.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 311,
"cds_start": 181,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917481.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr",
"transcript": "ENST00000917485.1",
"protein_id": "ENSP00000587544.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 311,
"cds_start": 181,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917485.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr",
"transcript": "ENST00000917491.1",
"protein_id": "ENSP00000587550.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 306,
"cds_start": 181,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917491.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr",
"transcript": "ENST00000917489.1",
"protein_id": "ENSP00000587548.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 291,
"cds_start": 181,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917489.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr",
"transcript": "ENST00000917480.1",
"protein_id": "ENSP00000587539.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 219,
"cds_start": 181,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917480.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr",
"transcript": "ENST00000917487.1",
"protein_id": "ENSP00000587546.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 219,
"cds_start": 181,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917487.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr",
"transcript": "ENST00000366964.7",
"protein_id": "ENSP00000355931.4",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 169,
"cds_start": 181,
"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": "ENST00000366964.7"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr",
"transcript": "ENST00000917483.1",
"protein_id": "ENSP00000587542.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 154,
"cds_start": 181,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917483.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr",
"transcript": "ENST00000917488.1",
"protein_id": "ENSP00000587547.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 154,
"cds_start": 181,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917488.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.-15C>T",
"hgvs_p": null,
"transcript": "NM_001136474.3",
"protein_id": "NP_001129946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": null,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136474.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.-15C>T",
"hgvs_p": null,
"transcript": "ENST00000366966.6",
"protein_id": "ENSP00000430319.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": null,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366966.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.-15C>T",
"hgvs_p": null,
"transcript": "ENST00000366968.8",
"protein_id": "ENSP00000355935.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": null,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366968.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.-15C>T",
"hgvs_p": null,
"transcript": "ENST00000490792.1",
"protein_id": "ENSP00000419918.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 24,
"cds_start": null,
"cds_end": null,
"cds_length": 75,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490792.1"
},
{
"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": 1,
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"gene_symbol": "VASH2",
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"hgvs_c": "c.-37+983C>T",
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"transcript": "NM_001136475.3",
"protein_id": "NP_001129947.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136475.3"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "c.-37+983C>T",
"hgvs_p": null,
"transcript": "ENST00000366967.6",
"protein_id": "ENSP00000429040.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366967.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"hgvs_c": "n.196C>T",
"hgvs_p": null,
"transcript": "ENST00000493155.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000493155.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VASH2",
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"hgvs_c": "n.100+983C>T",
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"transcript": "ENST00000271776.4",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000271776.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000306165",
"gene_hgnc_id": null,
"hgvs_c": "n.-79G>A",
"hgvs_p": null,
"transcript": "ENST00000815954.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000815954.1"
}
],
"gene_symbol": "VASH2",
"gene_hgnc_id": 25723,
"dbsnp": "rs1366818216",
"frequency_reference_population": 0.000002491172,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 6.88013e-7,
"gnomad_genomes_af": 0.0000197096,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1128060519695282,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.1026,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.509,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001301056.2",
"gene_symbol": "VASH2",
"hgnc_id": 25723,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.His61Tyr"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000815954.1",
"gene_symbol": "ENSG00000306165",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-79G>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
}