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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: 11-10031159-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=10031159&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 10031159,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000256190.13",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Lys97Lys",
"transcript": "NM_030962.4",
"protein_id": "NP_112224.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1849,
"cds_start": 291,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 7450,
"mane_select": "ENST00000256190.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Lys97Lys",
"transcript": "ENST00000256190.13",
"protein_id": "ENSP00000256190.8",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 1849,
"cds_start": 291,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 7450,
"mane_select": "NM_030962.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Lys97Lys",
"transcript": "ENST00000533770.6",
"protein_id": "ENSP00000509247.1",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 1152,
"cds_start": 291,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 4914,
"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": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.441G>A",
"hgvs_p": null,
"transcript": "ENST00000526353.2",
"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": 7399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Lys97Lys",
"transcript": "NM_001386339.1",
"protein_id": "NP_001373268.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1881,
"cds_start": 291,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 7546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Lys97Lys",
"transcript": "ENST00000689128.1",
"protein_id": "ENSP00000509587.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1881,
"cds_start": 291,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 7279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Lys97Lys",
"transcript": "ENST00000675281.2",
"protein_id": "ENSP00000502491.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1874,
"cds_start": 291,
"cds_end": null,
"cds_length": 5625,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 7347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Lys97Lys",
"transcript": "ENST00000676387.2",
"protein_id": "ENSP00000502779.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1868,
"cds_start": 291,
"cds_end": null,
"cds_length": 5607,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 7167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.327G>A",
"hgvs_p": "p.Lys109Lys",
"transcript": "NM_001424318.1",
"protein_id": "NP_001411247.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 1861,
"cds_start": 327,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 7880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.327G>A",
"hgvs_p": "p.Lys109Lys",
"transcript": "NM_001425070.1",
"protein_id": "NP_001411999.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 1861,
"cds_start": 327,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 7680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Lys97Lys",
"transcript": "ENST00000689940.1",
"protein_id": "ENSP00000508452.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1847,
"cds_start": 291,
"cds_end": null,
"cds_length": 5544,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 7452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.153G>A",
"hgvs_p": "p.Lys51Lys",
"transcript": "ENST00000689258.1",
"protein_id": "ENSP00000510475.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 1828,
"cds_start": 153,
"cds_end": null,
"cds_length": 5487,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 6667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.327G>A",
"hgvs_p": "p.Lys109Lys",
"transcript": "NM_001425069.1",
"protein_id": "NP_001411998.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 1814,
"cds_start": 327,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 7539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Lys97Lys",
"transcript": "NM_001386342.1",
"protein_id": "NP_001373271.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1806,
"cds_start": 291,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 7321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Lys97Lys",
"transcript": "ENST00000692716.1",
"protein_id": "ENSP00000509545.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1806,
"cds_start": 291,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 9215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Lys4Lys",
"transcript": "ENST00000688344.1",
"protein_id": "ENSP00000509987.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1718,
"cds_start": 12,
"cds_end": null,
"cds_length": 5157,
"cdna_start": 12,
"cdna_end": null,
"cdna_length": 6763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Lys97Lys",
"transcript": "ENST00000688206.1",
"protein_id": "ENSP00000510516.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 284,
"cds_start": 291,
"cds_end": null,
"cds_length": 855,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Lys97Lys",
"transcript": "ENST00000686079.1",
"protein_id": "ENSP00000509599.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 238,
"cds_start": 291,
"cds_end": null,
"cds_length": 717,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Lys97Lys",
"transcript": "ENST00000687256.1",
"protein_id": "ENSP00000508741.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 235,
"cds_start": 291,
"cds_end": null,
"cds_length": 708,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 1124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Lys97Lys",
"transcript": "ENST00000687300.1",
"protein_id": "ENSP00000508415.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 221,
"cds_start": 291,
"cds_end": null,
"cds_length": 666,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Lys97Lys",
"transcript": "ENST00000693212.1",
"protein_id": "ENSP00000510716.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 219,
"cds_start": 291,
"cds_end": null,
"cds_length": 660,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Lys97Lys",
"transcript": "XM_047427657.1",
"protein_id": "XP_047283613.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1554,
"cds_start": 291,
"cds_end": null,
"cds_length": 4665,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Lys97Lys",
"transcript": "XM_011520395.4",
"protein_id": "XP_011518697.1",
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "Charcot-Marie-Tooth disease type 4|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
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}
],
"message": null
}