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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: 12-94308821-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=94308821&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 94308821,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_016122.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2098G>T",
"hgvs_p": "p.Gly700*",
"transcript": "NM_016122.3",
"protein_id": "NP_057206.2",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 701,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397809.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016122.3"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2098G>T",
"hgvs_p": "p.Gly700*",
"transcript": "ENST00000397809.10",
"protein_id": "ENSP00000380911.4",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 701,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016122.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397809.10"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2098G>T",
"hgvs_p": "p.Gly700*",
"transcript": "ENST00000339839.9",
"protein_id": "ENSP00000344655.5",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 701,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339839.9"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2098G>T",
"hgvs_p": "p.Gly700*",
"transcript": "NM_001042399.2",
"protein_id": "NP_001035858.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 701,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042399.2"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2098G>T",
"hgvs_p": "p.Gly700*",
"transcript": "NM_001346457.2",
"protein_id": "NP_001333386.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 701,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346457.2"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2098G>T",
"hgvs_p": "p.Gly700*",
"transcript": "NM_001368037.1",
"protein_id": "NP_001354966.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 701,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368037.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2098G>T",
"hgvs_p": "p.Gly700*",
"transcript": "NM_001368038.1",
"protein_id": "NP_001354967.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 701,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368038.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2038G>T",
"hgvs_p": "p.Gly680*",
"transcript": "ENST00000914421.1",
"protein_id": "ENSP00000584480.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 681,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914421.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1873G>T",
"hgvs_p": "p.Gly625*",
"transcript": "NM_001368041.1",
"protein_id": "NP_001354970.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 626,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368041.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1873G>T",
"hgvs_p": "p.Gly625*",
"transcript": "ENST00000861191.1",
"protein_id": "ENSP00000531250.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 626,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861191.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1873G>T",
"hgvs_p": "p.Gly625*",
"transcript": "ENST00000949376.1",
"protein_id": "ENSP00000619435.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 626,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949376.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1873G>T",
"hgvs_p": "p.Gly625*",
"transcript": "ENST00000949377.1",
"protein_id": "ENSP00000619436.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 626,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949377.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1810G>T",
"hgvs_p": "p.Gly604*",
"transcript": "ENST00000914423.1",
"protein_id": "ENSP00000584482.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 605,
"cds_start": 1810,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914423.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1786G>T",
"hgvs_p": "p.Gly596*",
"transcript": "NM_001346458.2",
"protein_id": "NP_001333387.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 597,
"cds_start": 1786,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346458.2"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1786G>T",
"hgvs_p": "p.Gly596*",
"transcript": "NM_001346459.2",
"protein_id": "NP_001333388.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 597,
"cds_start": 1786,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346459.2"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1786G>T",
"hgvs_p": "p.Gly596*",
"transcript": "NM_001368039.1",
"protein_id": "NP_001354968.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 597,
"cds_start": 1786,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368039.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1786G>T",
"hgvs_p": "p.Gly596*",
"transcript": "NM_001368040.1",
"protein_id": "NP_001354969.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 597,
"cds_start": 1786,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368040.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.715G>T",
"hgvs_p": "p.Gly239*",
"transcript": "ENST00000914422.1",
"protein_id": "ENSP00000584481.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 240,
"cds_start": 715,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914422.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Gly164*",
"transcript": "ENST00000552632.5",
"protein_id": "ENSP00000447094.1",
"transcript_support_level": 3,
"aa_start": 164,
"aa_end": null,
"aa_length": 165,
"cds_start": 490,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552632.5"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2098G>T",
"hgvs_p": "p.Gly700*",
"transcript": "XM_011538424.3",
"protein_id": "XP_011536726.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 701,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538424.3"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2098G>T",
"hgvs_p": "p.Gly700*",
"transcript": "XM_017019385.3",
"protein_id": "XP_016874874.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 701,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019385.3"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2098G>T",
"hgvs_p": "p.Gly700*",
"transcript": "XM_017019386.3",
"protein_id": "XP_016874875.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 701,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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},
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}
],
"message": null
}