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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: 10-35016285-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=35016285&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 35016285,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000374749.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1794G>T",
"hgvs_p": "p.Glu598Asp",
"transcript": "NM_003591.4",
"protein_id": "NP_003582.2",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 745,
"cds_start": 1794,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 4183,
"mane_select": "ENST00000374749.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1794G>T",
"hgvs_p": "p.Glu598Asp",
"transcript": "ENST00000374749.8",
"protein_id": "ENSP00000363881.3",
"transcript_support_level": 1,
"aa_start": 598,
"aa_end": null,
"aa_length": 745,
"cds_start": 1794,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 4183,
"mane_select": "NM_003591.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1794G>T",
"hgvs_p": "p.Glu598Asp",
"transcript": "ENST00000374751.7",
"protein_id": "ENSP00000363883.3",
"transcript_support_level": 1,
"aa_start": 598,
"aa_end": null,
"aa_length": 745,
"cds_start": 1794,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2029,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Glu617Asp",
"transcript": "NM_001198778.2",
"protein_id": "NP_001185707.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 764,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Glu617Asp",
"transcript": "ENST00000421317.5",
"protein_id": "ENSP00000414095.2",
"transcript_support_level": 2,
"aa_start": 617,
"aa_end": null,
"aa_length": 764,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1833G>T",
"hgvs_p": "p.Glu611Asp",
"transcript": "NM_001198779.1",
"protein_id": "NP_001185708.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 758,
"cds_start": 1833,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1833G>T",
"hgvs_p": "p.Glu611Asp",
"transcript": "ENST00000537177.6",
"protein_id": "ENSP00000444856.2",
"transcript_support_level": 5,
"aa_start": 611,
"aa_end": null,
"aa_length": 758,
"cds_start": 1833,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2019,
"cdna_end": null,
"cdna_length": 4223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1833G>T",
"hgvs_p": "p.Glu611Asp",
"transcript": "ENST00000688571.1",
"protein_id": "ENSP00000509574.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 758,
"cds_start": 1833,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2124,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1818G>T",
"hgvs_p": "p.Glu606Asp",
"transcript": "ENST00000687524.1",
"protein_id": "ENSP00000510171.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 753,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 2738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1794G>T",
"hgvs_p": "p.Glu598Asp",
"transcript": "NM_001198777.2",
"protein_id": "NP_001185706.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 745,
"cds_start": 1794,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 4205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1794G>T",
"hgvs_p": "p.Glu598Asp",
"transcript": "ENST00000374748.5",
"protein_id": "ENSP00000363880.1",
"transcript_support_level": 5,
"aa_start": 598,
"aa_end": null,
"aa_length": 745,
"cds_start": 1794,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2108,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1794G>T",
"hgvs_p": "p.Glu598Asp",
"transcript": "ENST00000673636.2",
"protein_id": "ENSP00000501215.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 745,
"cds_start": 1794,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2103,
"cdna_end": null,
"cdna_length": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1794G>T",
"hgvs_p": "p.Glu598Asp",
"transcript": "ENST00000690393.1",
"protein_id": "ENSP00000510691.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 745,
"cds_start": 1794,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2045,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1794G>T",
"hgvs_p": "p.Glu598Asp",
"transcript": "ENST00000691974.1",
"protein_id": "ENSP00000508908.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 745,
"cds_start": 1794,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2284,
"cdna_end": null,
"cdna_length": 3187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1785G>T",
"hgvs_p": "p.Glu595Asp",
"transcript": "ENST00000691263.1",
"protein_id": "ENSP00000510240.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 742,
"cds_start": 1785,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1973,
"cdna_end": null,
"cdna_length": 2717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1794G>T",
"hgvs_p": "p.Glu598Asp",
"transcript": "ENST00000691201.1",
"protein_id": "ENSP00000509778.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 716,
"cds_start": 1794,
"cds_end": null,
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"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1794G>T",
"hgvs_p": "p.Glu598Asp",
"transcript": "ENST00000690092.1",
"protein_id": "ENSP00000508675.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 711,
"cds_start": 1794,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1794G>T",
"hgvs_p": "p.Glu598Asp",
"transcript": "ENST00000626172.3",
"protein_id": "ENSP00000485986.1",
"transcript_support_level": 5,
"aa_start": 598,
"aa_end": null,
"aa_length": 706,
"cds_start": 1794,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1641G>T",
"hgvs_p": "p.Glu547Asp",
"transcript": "ENST00000374746.6",
"protein_id": "ENSP00000363878.2",
"transcript_support_level": 5,
"aa_start": 547,
"aa_end": null,
"aa_length": 694,
"cds_start": 1641,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 3867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1605G>T",
"hgvs_p": "p.Glu535Asp",
"transcript": "NM_001324375.2",
"protein_id": "NP_001311304.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 682,
"cds_start": 1605,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 3994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1605G>T",
"hgvs_p": "p.Glu535Asp",
"transcript": "ENST00000690123.1",
"protein_id": "ENSP00000508924.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 682,
"cds_start": 1605,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1401G>T",
"hgvs_p": "p.Glu467Asp",
"transcript": "NM_001324376.2",
"protein_id": "NP_001311305.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 614,
"cds_start": 1401,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
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"phenotype_combined": "not specified",
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}
],
"message": null
}