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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: 22-26453266-C-CTGCTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=26453266&ref=C&alt=CTGCTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 26453266,
"ref": "C",
"alt": "CTGCTT",
"effect": "frameshift_variant",
"transcript": "ENST00000398145.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.2089_2093dupAAGCA",
"hgvs_p": "p.Lys699fs",
"transcript": "NM_022081.6",
"protein_id": "NP_071364.4",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 708,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 5066,
"mane_select": "ENST00000398145.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.2089_2093dupAAGCA",
"hgvs_p": "p.Lys699fs",
"transcript": "ENST00000398145.7",
"protein_id": "ENSP00000381213.2",
"transcript_support_level": 1,
"aa_start": 698,
"aa_end": null,
"aa_length": 708,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 5066,
"mane_select": "NM_022081.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.2074_2078dupAAGCA",
"hgvs_p": "p.Lys694fs",
"transcript": "ENST00000402105.7",
"protein_id": "ENSP00000384185.3",
"transcript_support_level": 1,
"aa_start": 693,
"aa_end": null,
"aa_length": 703,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "n.*1607_*1611dupAAGCA",
"hgvs_p": null,
"transcript": "ENST00000439453.5",
"protein_id": "ENSP00000406764.1",
"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": 3936,
"mane_select": null,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "n.4948_4952dupAAGCA",
"hgvs_p": null,
"transcript": "ENST00000466781.5",
"protein_id": null,
"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": 6136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "n.*1607_*1611dupAAGCA",
"hgvs_p": null,
"transcript": "ENST00000439453.5",
"protein_id": "ENSP00000406764.1",
"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": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.2143_2147dupAAGCA",
"hgvs_p": "p.Lys717fs",
"transcript": "NM_001349900.2",
"protein_id": "NP_001336829.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 726,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 2735,
"cdna_end": null,
"cdna_length": 5120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.2143_2147dupAAGCA",
"hgvs_p": "p.Lys717fs",
"transcript": "NM_001349901.1",
"protein_id": "NP_001336830.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 726,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 2724,
"cdna_end": null,
"cdna_length": 5109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.2143_2147dupAAGCA",
"hgvs_p": "p.Lys717fs",
"transcript": "ENST00000422379.3",
"protein_id": "ENSP00000415081.3",
"transcript_support_level": 5,
"aa_start": 716,
"aa_end": null,
"aa_length": 726,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.2089_2093dupAAGCA",
"hgvs_p": "p.Lys699fs",
"transcript": "NM_001349896.1",
"protein_id": "NP_001336825.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 708,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2670,
"cdna_end": null,
"cdna_length": 5055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.2089_2093dupAAGCA",
"hgvs_p": "p.Lys699fs",
"transcript": "NM_001349898.2",
"protein_id": "NP_001336827.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 708,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2809,
"cdna_end": null,
"cdna_length": 5194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.2089_2093dupAAGCA",
"hgvs_p": "p.Lys699fs",
"transcript": "NM_001349899.2",
"protein_id": "NP_001336828.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 708,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2610,
"cdna_end": null,
"cdna_length": 4995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.2089_2093dupAAGCA",
"hgvs_p": "p.Lys699fs",
"transcript": "ENST00000336873.9",
"protein_id": "ENSP00000338457.5",
"transcript_support_level": 5,
"aa_start": 698,
"aa_end": null,
"aa_length": 708,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2602,
"cdna_end": null,
"cdna_length": 3786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.2089_2093dupAAGCA",
"hgvs_p": "p.Lys699fs",
"transcript": "ENST00000473782.2",
"protein_id": "ENSP00000514223.1",
"transcript_support_level": 2,
"aa_start": 698,
"aa_end": null,
"aa_length": 708,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2814,
"cdna_end": null,
"cdna_length": 4586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.2074_2078dupAAGCA",
"hgvs_p": "p.Lys694fs",
"transcript": "NM_152841.2",
"protein_id": "NP_690054.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 703,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 4763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1999_2003dupAAGCA",
"hgvs_p": "p.Lys669fs",
"transcript": "ENST00000699242.1",
"protein_id": "ENSP00000514231.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 678,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1942_1946dupAAGCA",
"hgvs_p": "p.Lys650fs",
"transcript": "ENST00000699244.1",
"protein_id": "ENSP00000514233.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 659,
"cds_start": 1946,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2548,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1847_1851dupAAGCA",
"hgvs_p": "p.Glu618fs",
"transcript": "NM_001349902.1",
"protein_id": "NP_001336831.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 649,
"cds_start": 1851,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 4813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1847_1851dupAAGCA",
"hgvs_p": "p.Glu618fs",
"transcript": "NM_001349903.2",
"protein_id": "NP_001336832.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 649,
"cds_start": 1851,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2439,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AK?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1847_1851dupAAGCA",
"hgvs_p": "p.Glu618fs",
"transcript": "ENST00000699250.1",
"protein_id": "ENSP00000514237.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 649,
"cds_start": 1851,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 4164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1294_1298dupAAGCA",
"hgvs_p": "p.Lys434fs",
"transcript": "ENST00000483631.2",
"protein_id": "ENSP00000514228.1",
"transcript_support_level": 3,
"aa_start": 433,
"aa_end": null,
"aa_length": 443,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 2559,
"cdna_end": null,
"cdna_length": 4331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1294_1298dupAAGCA",
"hgvs_p": "p.Lys434fs",
"transcript": "ENST00000699235.1",
"protein_id": "ENSP00000514224.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 443,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 2539,
"cdna_end": null,
"cdna_length": 4311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
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"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Hermansky-Pudlak syndrome 4",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}