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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: 10-89223821-CA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=89223821&ref=CA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 89223821,
"ref": "CA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000336233.10",
"consequences": [
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "NM_000235.4",
"protein_id": "NP_000226.2",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": "ENST00000336233.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "ENST00000336233.10",
"protein_id": "ENSP00000337354.5",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": "NM_000235.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "ENST00000428800.5",
"protein_id": "ENSP00000388415.1",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 289,
"cds_start": 684,
"cds_end": null,
"cds_length": 872,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.816delT",
"hgvs_p": "p.Phe272fs",
"transcript": "NM_001440836.1",
"protein_id": "NP_001427765.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 443,
"cds_start": 816,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.705delT",
"hgvs_p": "p.Phe235fs",
"transcript": "NM_001440837.1",
"protein_id": "NP_001427766.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 406,
"cds_start": 705,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.699delT",
"hgvs_p": "p.Phe233fs",
"transcript": "NM_001440838.1",
"protein_id": "NP_001427767.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 404,
"cds_start": 699,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "NM_001127605.3",
"protein_id": "NP_001121077.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "NM_001440818.1",
"protein_id": "NP_001427747.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "NM_001440819.1",
"protein_id": "NP_001427748.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "NM_001440820.1",
"protein_id": "NP_001427749.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "NM_001440821.1",
"protein_id": "NP_001427750.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "NM_001440822.1",
"protein_id": "NP_001427751.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 2862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "NM_001440823.1",
"protein_id": "NP_001427752.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "NM_001440824.1",
"protein_id": "NP_001427753.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
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"cdna_start": 1071,
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"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "NM_001440825.1",
"protein_id": "NP_001427754.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "NM_001440826.1",
"protein_id": "NP_001427755.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
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"cdna_start": 911,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "NM_001440827.1",
"protein_id": "NP_001427756.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 881,
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"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "NM_001440828.1",
"protein_id": "NP_001427757.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "NM_001440829.1",
"protein_id": "NP_001427758.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
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"cdna_start": 980,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "NM_001440830.1",
"protein_id": "NP_001427759.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "NM_001440831.1",
"protein_id": "NP_001427760.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
"cds_end": null,
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"cdna_start": 1107,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "NM_001440832.1",
"protein_id": "NP_001427761.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 3622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.684delT",
"hgvs_p": "p.Phe228fs",
"transcript": "NM_001440833.1",
"protein_id": "NP_001427762.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 399,
"cds_start": 684,
"cds_end": null,
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],
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
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"phylop100way_score": 3.012,
"phylop100way_prediction": "Benign",
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"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
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"PP5_Very_Strong"
],
"verdict": "Pathogenic",
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"effects": [
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],
"clinvar_disease": "Cholesteryl ester storage disease,Lysosomal acid lipase deficiency,Wolman disease",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Lysosomal acid lipase deficiency|Wolman disease|Cholesteryl ester storage disease",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}