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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": "NM_001425224.1",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299626.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024079.5"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024079.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299626.10"
},
{
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000532050.5"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679559.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425224.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425225.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532440.6"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425222.1"
},
{
"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": "ENST00000853774.1",
"protein_id": "ENSP00000523833.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 533,
"cds_start": 396,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853774.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425219.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680256.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425223.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425220.1"
},
{
"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": "ENST00000853769.1",
"protein_id": "ENSP00000523828.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 521,
"cds_start": 381,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853769.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425221.1"
},
{
"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": "ENST00000853773.1",
"protein_id": "ENSP00000523832.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 501,
"cds_start": 396,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853773.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680398.1"
},
{
"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.252delA",
"hgvs_p": "p.Val85fs",
"transcript": "ENST00000853770.1",
"protein_id": "ENSP00000523829.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 478,
"cds_start": 252,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853770.1"
},
{
"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": "ENST00000965607.1",
"protein_id": "ENSP00000635666.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 477,
"cds_start": 396,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965607.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425226.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425227.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681699.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
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}