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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: 10-89215004-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=89215004&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 89215004,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000336233.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_000235.4",
"protein_id": "NP_000226.2",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": "ENST00000336233.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "ENST00000336233.10",
"protein_id": "ENSP00000337354.5",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": "NM_000235.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1156G>T",
"hgvs_p": "p.Gly386Trp",
"transcript": "NM_001440836.1",
"protein_id": "NP_001427765.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 443,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1045G>T",
"hgvs_p": "p.Gly349Trp",
"transcript": "NM_001440837.1",
"protein_id": "NP_001427766.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 406,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1039G>T",
"hgvs_p": "p.Gly347Trp",
"transcript": "NM_001440838.1",
"protein_id": "NP_001427767.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 404,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001127605.3",
"protein_id": "NP_001121077.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001440818.1",
"protein_id": "NP_001427747.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1603,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001440819.1",
"protein_id": "NP_001427748.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001440820.1",
"protein_id": "NP_001427749.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001440821.1",
"protein_id": "NP_001427750.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001440822.1",
"protein_id": "NP_001427751.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 2862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001440823.1",
"protein_id": "NP_001427752.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001440824.1",
"protein_id": "NP_001427753.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001440825.1",
"protein_id": "NP_001427754.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001440826.1",
"protein_id": "NP_001427755.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001440827.1",
"protein_id": "NP_001427756.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001440828.1",
"protein_id": "NP_001427757.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001440829.1",
"protein_id": "NP_001427758.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001440830.1",
"protein_id": "NP_001427759.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001440831.1",
"protein_id": "NP_001427760.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001440832.1",
"protein_id": "NP_001427761.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 3622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001440833.1",
"protein_id": "NP_001427762.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 399,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Gly342Trp",
"transcript": "NM_001440834.1",
"protein_id": "NP_001427763.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
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}
],
"gene_symbol": "LIPA",
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"dbsnp": "rs776472526",
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"computational_score_selected": 0.9930213689804077,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.86,
"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.989,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 11,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 11,
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"pathogenic_score": 11,
"criteria": [
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"PM5",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000336233.10",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "Lysosomal acid lipase deficiency",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Lysosomal acid lipase deficiency",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}