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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: 10-29458544-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=29458544&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 29458544,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_021738.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.6448G>A",
"hgvs_p": "p.Ala2150Thr",
"transcript": "NM_021738.3",
"protein_id": "NP_068506.2",
"transcript_support_level": null,
"aa_start": 2150,
"aa_end": null,
"aa_length": 2214,
"cds_start": 6448,
"cds_end": null,
"cds_length": 6645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355867.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021738.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.6448G>A",
"hgvs_p": "p.Ala2150Thr",
"transcript": "ENST00000355867.9",
"protein_id": "ENSP00000348128.4",
"transcript_support_level": 1,
"aa_start": 2150,
"aa_end": null,
"aa_length": 2214,
"cds_start": 6448,
"cds_end": null,
"cds_length": 6645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021738.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355867.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.5170G>A",
"hgvs_p": "p.Ala1724Thr",
"transcript": "ENST00000375400.7",
"protein_id": "ENSP00000364549.3",
"transcript_support_level": 1,
"aa_start": 1724,
"aa_end": null,
"aa_length": 1788,
"cds_start": 5170,
"cds_end": null,
"cds_length": 5367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375400.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SVIL-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.212-28611C>T",
"hgvs_p": null,
"transcript": "ENST00000413405.7",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000413405.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SVIL-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.213-24289C>T",
"hgvs_p": null,
"transcript": "ENST00000414457.7",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000414457.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.6574G>A",
"hgvs_p": "p.Ala2192Thr",
"transcript": "ENST00000860295.1",
"protein_id": "ENSP00000530354.1",
"transcript_support_level": null,
"aa_start": 2192,
"aa_end": null,
"aa_length": 2256,
"cds_start": 6574,
"cds_end": null,
"cds_length": 6771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860295.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.6574G>A",
"hgvs_p": "p.Ala2192Thr",
"transcript": "ENST00000946673.1",
"protein_id": "ENSP00000616732.1",
"transcript_support_level": null,
"aa_start": 2192,
"aa_end": null,
"aa_length": 2256,
"cds_start": 6574,
"cds_end": null,
"cds_length": 6771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946673.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.6448G>A",
"hgvs_p": "p.Ala2150Thr",
"transcript": "ENST00000860289.1",
"protein_id": "ENSP00000530348.1",
"transcript_support_level": null,
"aa_start": 2150,
"aa_end": null,
"aa_length": 2214,
"cds_start": 6448,
"cds_end": null,
"cds_length": 6645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860289.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.6403G>A",
"hgvs_p": "p.Ala2135Thr",
"transcript": "ENST00000946674.1",
"protein_id": "ENSP00000616733.1",
"transcript_support_level": null,
"aa_start": 2135,
"aa_end": null,
"aa_length": 2199,
"cds_start": 6403,
"cds_end": null,
"cds_length": 6600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946674.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.6403G>A",
"hgvs_p": "p.Ala2135Thr",
"transcript": "ENST00000946678.1",
"protein_id": "ENSP00000616737.1",
"transcript_support_level": null,
"aa_start": 2135,
"aa_end": null,
"aa_length": 2199,
"cds_start": 6403,
"cds_end": null,
"cds_length": 6600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946678.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.6352G>A",
"hgvs_p": "p.Ala2118Thr",
"transcript": "ENST00000375398.6",
"protein_id": "ENSP00000364547.3",
"transcript_support_level": 5,
"aa_start": 2118,
"aa_end": null,
"aa_length": 2182,
"cds_start": 6352,
"cds_end": null,
"cds_length": 6549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375398.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.6352G>A",
"hgvs_p": "p.Ala2118Thr",
"transcript": "ENST00000946672.1",
"protein_id": "ENSP00000616731.1",
"transcript_support_level": null,
"aa_start": 2118,
"aa_end": null,
"aa_length": 2182,
"cds_start": 6352,
"cds_end": null,
"cds_length": 6549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946672.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.6277G>A",
"hgvs_p": "p.Ala2093Thr",
"transcript": "ENST00000860298.1",
"protein_id": "ENSP00000530357.1",
"transcript_support_level": null,
"aa_start": 2093,
"aa_end": null,
"aa_length": 2157,
"cds_start": 6277,
"cds_end": null,
"cds_length": 6474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860298.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.6271G>A",
"hgvs_p": "p.Ala2091Thr",
"transcript": "ENST00000946670.1",
"protein_id": "ENSP00000616729.1",
"transcript_support_level": null,
"aa_start": 2091,
"aa_end": null,
"aa_length": 2155,
"cds_start": 6271,
"cds_end": null,
"cds_length": 6468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946670.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.6223G>A",
"hgvs_p": "p.Ala2075Thr",
"transcript": "ENST00000860288.1",
"protein_id": "ENSP00000530347.1",
"transcript_support_level": null,
"aa_start": 2075,
"aa_end": null,
"aa_length": 2139,
"cds_start": 6223,
"cds_end": null,
"cds_length": 6420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860288.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.6181G>A",
"hgvs_p": "p.Ala2061Thr",
"transcript": "ENST00000860291.1",
"protein_id": "ENSP00000530350.1",
"transcript_support_level": null,
"aa_start": 2061,
"aa_end": null,
"aa_length": 2125,
"cds_start": 6181,
"cds_end": null,
"cds_length": 6378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860291.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.5518G>A",
"hgvs_p": "p.Ala1840Thr",
"transcript": "NM_001323599.2",
"protein_id": "NP_001310528.1",
"transcript_support_level": null,
"aa_start": 1840,
"aa_end": null,
"aa_length": 1904,
"cds_start": 5518,
"cds_end": null,
"cds_length": 5715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323599.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.5518G>A",
"hgvs_p": "p.Ala1840Thr",
"transcript": "ENST00000674475.1",
"protein_id": "ENSP00000501521.1",
"transcript_support_level": null,
"aa_start": 1840,
"aa_end": null,
"aa_length": 1904,
"cds_start": 5518,
"cds_end": null,
"cds_length": 5715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674475.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.5473G>A",
"hgvs_p": "p.Ala1825Thr",
"transcript": "ENST00000946679.1",
"protein_id": "ENSP00000616738.1",
"transcript_support_level": null,
"aa_start": 1825,
"aa_end": null,
"aa_length": 1889,
"cds_start": 5473,
"cds_end": null,
"cds_length": 5670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946679.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.5467G>A",
"hgvs_p": "p.Ala1823Thr",
"transcript": "ENST00000946680.1",
"protein_id": "ENSP00000616739.1",
"transcript_support_level": null,
"aa_start": 1823,
"aa_end": null,
"aa_length": 1887,
"cds_start": 5467,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946680.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.5422G>A",
"hgvs_p": "p.Ala1808Thr",
"transcript": "ENST00000860299.1",
"protein_id": "ENSP00000530358.1",
"transcript_support_level": null,
"aa_start": 1808,
"aa_end": null,
"aa_length": 1872,
"cds_start": 5422,
"cds_end": null,
"cds_length": 5619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860299.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SVIL",
"gene_hgnc_id": 11480,
"hgvs_c": "c.5422G>A",
"hgvs_p": "p.Ala1808Thr",
"transcript": "ENST00000924356.1",
"protein_id": "ENSP00000594415.1",
"transcript_support_level": null,
"aa_start": 1808,
"aa_end": null,
"aa_length": 1872,
"cds_start": 5422,
"cds_end": null,
"cds_length": 5619,
"cdna_start": null,
"cdna_end": null,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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{
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"BP4"
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"verdict": "Uncertain_significance",
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"effects": [
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{
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],
"verdict": "Uncertain_significance",
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"effects": [
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}