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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: X-130625321-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=130625321&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 130625321,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001382518.1",
"consequences": [
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1739T>C",
"hgvs_p": "p.Leu580Pro",
"transcript": "NM_006375.4",
"protein_id": "NP_006366.2",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 581,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394363.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006375.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1739T>C",
"hgvs_p": "p.Leu580Pro",
"transcript": "ENST00000394363.6",
"protein_id": "ENSP00000377890.1",
"transcript_support_level": 2,
"aa_start": 580,
"aa_end": null,
"aa_length": 581,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006375.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394363.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "ENST00000370927.5",
"protein_id": "ENSP00000359965.1",
"transcript_support_level": 1,
"aa_start": 609,
"aa_end": null,
"aa_length": 610,
"cds_start": 1826,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370927.5"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.2015T>C",
"hgvs_p": "p.Leu672Pro",
"transcript": "NM_001382518.1",
"protein_id": "NP_001369447.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 673,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382518.1"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.2015T>C",
"hgvs_p": "p.Leu672Pro",
"transcript": "ENST00000686943.1",
"protein_id": "ENSP00000509235.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 673,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686943.1"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1943T>C",
"hgvs_p": "p.Leu648Pro",
"transcript": "ENST00000714528.1",
"protein_id": "ENSP00000519773.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 649,
"cds_start": 1943,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714528.1"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "NM_001382516.1",
"protein_id": "NP_001369445.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 610,
"cds_start": 1826,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382516.1"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "NM_001382517.1",
"protein_id": "NP_001369446.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 610,
"cds_start": 1826,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382517.1"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "NM_182314.3",
"protein_id": "NP_872114.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 610,
"cds_start": 1826,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182314.3"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Leu609Pro",
"transcript": "ENST00000338144.8",
"protein_id": "ENSP00000337146.3",
"transcript_support_level": 2,
"aa_start": 609,
"aa_end": null,
"aa_length": 610,
"cds_start": 1826,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338144.8"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1820T>C",
"hgvs_p": "p.Leu607Pro",
"transcript": "NM_001382519.1",
"protein_id": "NP_001369448.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 608,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382519.1"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1820T>C",
"hgvs_p": "p.Leu607Pro",
"transcript": "NM_001382520.1",
"protein_id": "NP_001369449.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 608,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382520.1"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1799T>C",
"hgvs_p": "p.Leu600Pro",
"transcript": "ENST00000714529.1",
"protein_id": "ENSP00000519774.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 601,
"cds_start": 1799,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714529.1"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1739T>C",
"hgvs_p": "p.Leu580Pro",
"transcript": "NM_001281736.2",
"protein_id": "NP_001268665.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 581,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281736.2"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1739T>C",
"hgvs_p": "p.Leu580Pro",
"transcript": "ENST00000370935.5",
"protein_id": "ENSP00000359973.1",
"transcript_support_level": 2,
"aa_start": 580,
"aa_end": null,
"aa_length": 581,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370935.5"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1739T>C",
"hgvs_p": "p.Leu580Pro",
"transcript": "ENST00000900503.1",
"protein_id": "ENSP00000570562.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 581,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900503.1"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1739T>C",
"hgvs_p": "p.Leu580Pro",
"transcript": "ENST00000900504.1",
"protein_id": "ENSP00000570563.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 581,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900504.1"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1739T>C",
"hgvs_p": "p.Leu580Pro",
"transcript": "ENST00000900508.1",
"protein_id": "ENSP00000570567.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 581,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900508.1"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1739T>C",
"hgvs_p": "p.Leu580Pro",
"transcript": "ENST00000900512.1",
"protein_id": "ENSP00000570571.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 581,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900512.1"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1739T>C",
"hgvs_p": "p.Leu580Pro",
"transcript": "ENST00000900513.1",
"protein_id": "ENSP00000570572.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 581,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900513.1"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1739T>C",
"hgvs_p": "p.Leu580Pro",
"transcript": "ENST00000937154.1",
"protein_id": "ENSP00000607213.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 581,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937154.1"
},
{
"aa_ref": "L",
"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": "ENOX2",
"gene_hgnc_id": 2259,
"hgvs_c": "c.1739T>C",
"hgvs_p": "p.Leu580Pro",
"transcript": "ENST00000937155.1",
"protein_id": "ENSP00000607214.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 581,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
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"phenotype_combined": "not specified",
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}