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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: 12-94308893-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=94308893&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 94308893,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016122.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.2026T>C",
"hgvs_p": "p.Ser676Pro",
"transcript": "NM_016122.3",
"protein_id": "NP_057206.2",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 701,
"cds_start": 2026,
"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": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.2026T>C",
"hgvs_p": "p.Ser676Pro",
"transcript": "ENST00000397809.10",
"protein_id": "ENSP00000380911.4",
"transcript_support_level": 1,
"aa_start": 676,
"aa_end": null,
"aa_length": 701,
"cds_start": 2026,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.2026T>C",
"hgvs_p": "p.Ser676Pro",
"transcript": "ENST00000339839.9",
"protein_id": "ENSP00000344655.5",
"transcript_support_level": 1,
"aa_start": 676,
"aa_end": null,
"aa_length": 701,
"cds_start": 2026,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.2026T>C",
"hgvs_p": "p.Ser676Pro",
"transcript": "NM_001042399.2",
"protein_id": "NP_001035858.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 701,
"cds_start": 2026,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.2026T>C",
"hgvs_p": "p.Ser676Pro",
"transcript": "NM_001346457.2",
"protein_id": "NP_001333386.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 701,
"cds_start": 2026,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.2026T>C",
"hgvs_p": "p.Ser676Pro",
"transcript": "NM_001368037.1",
"protein_id": "NP_001354966.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 701,
"cds_start": 2026,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.2026T>C",
"hgvs_p": "p.Ser676Pro",
"transcript": "NM_001368038.1",
"protein_id": "NP_001354967.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 701,
"cds_start": 2026,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.1966T>C",
"hgvs_p": "p.Ser656Pro",
"transcript": "ENST00000914421.1",
"protein_id": "ENSP00000584480.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 681,
"cds_start": 1966,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.1801T>C",
"hgvs_p": "p.Ser601Pro",
"transcript": "NM_001368041.1",
"protein_id": "NP_001354970.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 626,
"cds_start": 1801,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.1801T>C",
"hgvs_p": "p.Ser601Pro",
"transcript": "ENST00000861191.1",
"protein_id": "ENSP00000531250.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 626,
"cds_start": 1801,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.1801T>C",
"hgvs_p": "p.Ser601Pro",
"transcript": "ENST00000949376.1",
"protein_id": "ENSP00000619435.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 626,
"cds_start": 1801,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.1801T>C",
"hgvs_p": "p.Ser601Pro",
"transcript": "ENST00000949377.1",
"protein_id": "ENSP00000619436.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 626,
"cds_start": 1801,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.1738T>C",
"hgvs_p": "p.Ser580Pro",
"transcript": "ENST00000914423.1",
"protein_id": "ENSP00000584482.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 605,
"cds_start": 1738,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.1714T>C",
"hgvs_p": "p.Ser572Pro",
"transcript": "NM_001346458.2",
"protein_id": "NP_001333387.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 597,
"cds_start": 1714,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.1714T>C",
"hgvs_p": "p.Ser572Pro",
"transcript": "NM_001346459.2",
"protein_id": "NP_001333388.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 597,
"cds_start": 1714,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.1714T>C",
"hgvs_p": "p.Ser572Pro",
"transcript": "NM_001368039.1",
"protein_id": "NP_001354968.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 597,
"cds_start": 1714,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.1714T>C",
"hgvs_p": "p.Ser572Pro",
"transcript": "NM_001368040.1",
"protein_id": "NP_001354969.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 597,
"cds_start": 1714,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.643T>C",
"hgvs_p": "p.Ser215Pro",
"transcript": "ENST00000914422.1",
"protein_id": "ENSP00000584481.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 240,
"cds_start": 643,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.418T>C",
"hgvs_p": "p.Ser140Pro",
"transcript": "ENST00000552632.5",
"protein_id": "ENSP00000447094.1",
"transcript_support_level": 3,
"aa_start": 140,
"aa_end": null,
"aa_length": 165,
"cds_start": 418,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.2026T>C",
"hgvs_p": "p.Ser676Pro",
"transcript": "XM_011538424.3",
"protein_id": "XP_011536726.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 701,
"cds_start": 2026,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.2026T>C",
"hgvs_p": "p.Ser676Pro",
"transcript": "XM_017019385.3",
"protein_id": "XP_016874874.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 701,
"cds_start": 2026,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.2026T>C",
"hgvs_p": "p.Ser676Pro",
"transcript": "XM_017019386.3",
"protein_id": "XP_016874875.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 701,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
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}
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}