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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: 11-78121146-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=78121146&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 78121146,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000299626.10",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.396delA",
"hgvs_p": "p.Val133fs",
"transcript": "NM_024079.5",
"protein_id": "NP_076984.2",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 526,
"cds_start": 396,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1637,
"mane_select": "ENST00000299626.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.396delA",
"hgvs_p": "p.Val133fs",
"transcript": "ENST00000299626.10",
"protein_id": "ENSP00000299626.5",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 526,
"cds_start": 396,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1637,
"mane_select": "NM_024079.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "n.396delA",
"hgvs_p": null,
"transcript": "ENST00000532050.5",
"protein_id": "ENSP00000437199.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.396delA",
"hgvs_p": "p.Val133fs",
"transcript": "ENST00000679559.1",
"protein_id": "ENSP00000505433.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 560,
"cds_start": 396,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 1793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.396delA",
"hgvs_p": "p.Val133fs",
"transcript": "NM_001425224.1",
"protein_id": "NP_001412153.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 557,
"cds_start": 396,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.396delA",
"hgvs_p": "p.Val133fs",
"transcript": "NM_001425225.1",
"protein_id": "NP_001412154.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 542,
"cds_start": 396,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.396delA",
"hgvs_p": "p.Val133fs",
"transcript": "ENST00000532440.6",
"protein_id": "ENSP00000433429.2",
"transcript_support_level": 3,
"aa_start": 132,
"aa_end": null,
"aa_length": 542,
"cds_start": 396,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.396delA",
"hgvs_p": "p.Val133fs",
"transcript": "NM_001425222.1",
"protein_id": "NP_001412151.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 534,
"cds_start": 396,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.399delA",
"hgvs_p": "p.Val134fs",
"transcript": "NM_001425219.1",
"protein_id": "NP_001412148.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 527,
"cds_start": 399,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 1640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.399delA",
"hgvs_p": "p.Val134fs",
"transcript": "ENST00000680256.1",
"protein_id": "ENSP00000505074.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 527,
"cds_start": 399,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 1636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.396delA",
"hgvs_p": "p.Val133fs",
"transcript": "NM_001425223.1",
"protein_id": "NP_001412152.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 524,
"cds_start": 396,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.381delA",
"hgvs_p": "p.Val128fs",
"transcript": "NM_001425220.1",
"protein_id": "NP_001412149.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 521,
"cds_start": 381,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.396delA",
"hgvs_p": "p.Val133fs",
"transcript": "NM_001425221.1",
"protein_id": "NP_001412150.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 501,
"cds_start": 396,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.396delA",
"hgvs_p": "p.Val133fs",
"transcript": "ENST00000680398.1",
"protein_id": "ENSP00000506189.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 494,
"cds_start": 396,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.243delA",
"hgvs_p": "p.Val82fs",
"transcript": "NM_001425226.1",
"protein_id": "NP_001412155.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 475,
"cds_start": 243,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.396delA",
"hgvs_p": "p.Val133fs",
"transcript": "NM_001425227.1",
"protein_id": "NP_001412156.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 469,
"cds_start": 396,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.132delA",
"hgvs_p": "p.Val45fs",
"transcript": "ENST00000681699.1",
"protein_id": "ENSP00000504969.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 469,
"cds_start": 132,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.396delA",
"hgvs_p": "p.Val133fs",
"transcript": "NM_001425228.1",
"protein_id": "NP_001412157.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 468,
"cds_start": 396,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.396delA",
"hgvs_p": "p.Val133fs",
"transcript": "ENST00000529139.6",
"protein_id": "ENSP00000432953.2",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 468,
"cds_start": 396,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 1471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.396delA",
"hgvs_p": "p.Val133fs",
"transcript": "NM_001007027.3",
"protein_id": "NP_001007028.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 467,
"cds_start": 396,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.396delA",
"hgvs_p": "p.Val133fs",
"transcript": "ENST00000376156.7",
"protein_id": "ENSP00000365326.3",
"transcript_support_level": 2,
"aa_start": 132,
"aa_end": null,
"aa_length": 467,
"cds_start": 396,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.396delA",
"hgvs_p": "p.Val133fs",
"transcript": "NM_001425229.1",
"protein_id": "NP_001412158.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 460,
"cds_start": 396,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.396delA",
"hgvs_p": "p.Val133fs",
"transcript": "NM_001425230.1",
"protein_id": "NP_001412159.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 460,
"cds_start": 396,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1687,
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"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.911,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000299626.10",
"gene_symbol": "ALG8",
"hgnc_id": 23161,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.396delA",
"hgvs_p": "p.Val133fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}