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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: 1-155238519-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155238519&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155238519,
"ref": "T",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_000157.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.586A>C",
"hgvs_p": "p.Lys196Gln",
"transcript": "NM_000157.4",
"protein_id": "NP_000148.2",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 536,
"cds_start": 586,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368373.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000157.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.586A>C",
"hgvs_p": "p.Lys196Gln",
"transcript": "ENST00000368373.8",
"protein_id": "ENSP00000357357.3",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 536,
"cds_start": 586,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000157.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368373.8"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.586A>C",
"hgvs_p": "p.Lys196Gln",
"transcript": "ENST00000327247.9",
"protein_id": "ENSP00000314508.5",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 536,
"cds_start": 586,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327247.9"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.652A>C",
"hgvs_p": "p.Lys218Gln",
"transcript": "ENST00000948997.1",
"protein_id": "ENSP00000619056.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 558,
"cds_start": 652,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948997.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.586A>C",
"hgvs_p": "p.Lys196Gln",
"transcript": "ENST00000852365.1",
"protein_id": "ENSP00000522424.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 543,
"cds_start": 586,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852365.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.586A>C",
"hgvs_p": "p.Lys196Gln",
"transcript": "ENST00000852367.1",
"protein_id": "ENSP00000522426.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 543,
"cds_start": 586,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852367.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.586A>C",
"hgvs_p": "p.Lys196Gln",
"transcript": "NM_001005741.3",
"protein_id": "NP_001005741.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 536,
"cds_start": 586,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005741.3"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.586A>C",
"hgvs_p": "p.Lys196Gln",
"transcript": "NM_001005742.3",
"protein_id": "NP_001005742.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 536,
"cds_start": 586,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005742.3"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.586A>C",
"hgvs_p": "p.Lys196Gln",
"transcript": "ENST00000852359.1",
"protein_id": "ENSP00000522418.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 536,
"cds_start": 586,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852359.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.586A>C",
"hgvs_p": "p.Lys196Gln",
"transcript": "ENST00000852360.1",
"protein_id": "ENSP00000522419.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 536,
"cds_start": 586,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852360.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.586A>C",
"hgvs_p": "p.Lys196Gln",
"transcript": "ENST00000852361.1",
"protein_id": "ENSP00000522420.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 536,
"cds_start": 586,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852361.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.586A>C",
"hgvs_p": "p.Lys196Gln",
"transcript": "ENST00000852362.1",
"protein_id": "ENSP00000522421.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 536,
"cds_start": 586,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852362.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.586A>C",
"hgvs_p": "p.Lys196Gln",
"transcript": "ENST00000852363.1",
"protein_id": "ENSP00000522422.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 536,
"cds_start": 586,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852363.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.586A>C",
"hgvs_p": "p.Lys196Gln",
"transcript": "ENST00000852366.1",
"protein_id": "ENSP00000522425.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 536,
"cds_start": 586,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852366.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.586A>C",
"hgvs_p": "p.Lys196Gln",
"transcript": "ENST00000948996.1",
"protein_id": "ENSP00000619055.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 536,
"cds_start": 586,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948996.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.586A>C",
"hgvs_p": "p.Lys196Gln",
"transcript": "ENST00000948998.1",
"protein_id": "ENSP00000619057.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 535,
"cds_start": 586,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948998.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.439A>C",
"hgvs_p": "p.Lys147Gln",
"transcript": "NM_001171812.2",
"protein_id": "NP_001165283.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 487,
"cds_start": 439,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171812.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.439A>C",
"hgvs_p": "p.Lys147Gln",
"transcript": "ENST00000427500.7",
"protein_id": "ENSP00000402577.2",
"transcript_support_level": 2,
"aa_start": 147,
"aa_end": null,
"aa_length": 487,
"cds_start": 439,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427500.7"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.325A>C",
"hgvs_p": "p.Lys109Gln",
"transcript": "NM_001171811.2",
"protein_id": "NP_001165282.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 449,
"cds_start": 325,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171811.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.325A>C",
"hgvs_p": "p.Lys109Gln",
"transcript": "ENST00000428024.3",
"protein_id": "ENSP00000397986.2",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 449,
"cds_start": 325,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428024.3"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.247A>C",
"hgvs_p": "p.Lys83Gln",
"transcript": "ENST00000852364.1",
"protein_id": "ENSP00000522423.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 423,
"cds_start": 247,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852364.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "GBA1",
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"biotype": "protein_coding",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 2,
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"biotype": "pseudogene",
"feature": "ENST00000460156.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "GBA1",
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"hgvs_c": "n.191A>C",
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"transcript": "ENST00000491081.5",
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"biotype": "pseudogene",
"feature": "ENST00000491081.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "GBA1",
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"hgvs_c": "n.924A>C",
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"transcript": "ENST00000493842.5",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000493842.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 5,
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"gene_symbol": "GBA1",
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"transcript": "ENST00000497670.5",
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"biotype": "pseudogene",
"feature": "ENST00000497670.5"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "GBA1",
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"hgvs_c": "n.339+1454A>C",
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"transcript": "ENST00000484489.5",
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "GBA1",
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"hgvs_c": "n.*45A>C",
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"transcript": "ENST00000473570.5",
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"biotype": "pseudogene",
"feature": "ENST00000473570.5"
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],
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"dbsnp": "rs121908297",
"frequency_reference_population": 0.00001323469,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00246246,
"gnomad_genomes_af": 0.0000132347,
"gnomad_exomes_ac": 3536,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9290032386779785,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.23800000548362732,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.892,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8091,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.055,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0400507743898383,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000157.4",
"gene_symbol": "GBA1",
"hgnc_id": 4177,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.586A>C",
"hgvs_p": "p.Lys196Gln"
}
],
"clinvar_disease": "Gaucher disease type I,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Gaucher disease type I|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}