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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: 5-31409059-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=31409059&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 31409059,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_013235.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3851A>G",
"hgvs_p": "p.Tyr1284Cys",
"transcript": "NM_001382508.1",
"protein_id": "NP_001369437.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3851,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344624.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382508.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3851A>G",
"hgvs_p": "p.Tyr1284Cys",
"transcript": "ENST00000344624.8",
"protein_id": "ENSP00000339845.3",
"transcript_support_level": 5,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3851,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001382508.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344624.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3851A>G",
"hgvs_p": "p.Tyr1284Cys",
"transcript": "ENST00000511367.6",
"protein_id": "ENSP00000425979.2",
"transcript_support_level": 1,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3851,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511367.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3740A>G",
"hgvs_p": "p.Tyr1247Cys",
"transcript": "ENST00000513349.5",
"protein_id": "ENSP00000424161.1",
"transcript_support_level": 1,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3740,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513349.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3893A>G",
"hgvs_p": "p.Tyr1298Cys",
"transcript": "ENST00000866948.1",
"protein_id": "ENSP00000537007.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1388,
"cds_start": 3893,
"cds_end": null,
"cds_length": 4167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866948.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3893A>G",
"hgvs_p": "p.Tyr1298Cys",
"transcript": "ENST00000926014.1",
"protein_id": "ENSP00000596073.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1388,
"cds_start": 3893,
"cds_end": null,
"cds_length": 4167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926014.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3869A>G",
"hgvs_p": "p.Tyr1290Cys",
"transcript": "ENST00000926025.1",
"protein_id": "ENSP00000596084.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1380,
"cds_start": 3869,
"cds_end": null,
"cds_length": 4143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926025.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3851A>G",
"hgvs_p": "p.Tyr1284Cys",
"transcript": "NM_013235.5",
"protein_id": "NP_037367.3",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3851,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013235.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3851A>G",
"hgvs_p": "p.Tyr1284Cys",
"transcript": "ENST00000866937.1",
"protein_id": "ENSP00000536996.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3851,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866937.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3851A>G",
"hgvs_p": "p.Tyr1284Cys",
"transcript": "ENST00000866943.1",
"protein_id": "ENSP00000537002.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3851,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866943.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3851A>G",
"hgvs_p": "p.Tyr1284Cys",
"transcript": "ENST00000926013.1",
"protein_id": "ENSP00000596072.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3851,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926013.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3851A>G",
"hgvs_p": "p.Tyr1284Cys",
"transcript": "ENST00000926021.1",
"protein_id": "ENSP00000596080.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3851,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926021.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3851A>G",
"hgvs_p": "p.Tyr1284Cys",
"transcript": "ENST00000926027.1",
"protein_id": "ENSP00000596086.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3851,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926027.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3848A>G",
"hgvs_p": "p.Tyr1283Cys",
"transcript": "ENST00000866947.1",
"protein_id": "ENSP00000537006.1",
"transcript_support_level": null,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1373,
"cds_start": 3848,
"cds_end": null,
"cds_length": 4122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866947.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3827A>G",
"hgvs_p": "p.Tyr1276Cys",
"transcript": "ENST00000866936.1",
"protein_id": "ENSP00000536995.1",
"transcript_support_level": null,
"aa_start": 1276,
"aa_end": null,
"aa_length": 1366,
"cds_start": 3827,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866936.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3827A>G",
"hgvs_p": "p.Tyr1276Cys",
"transcript": "ENST00000866941.1",
"protein_id": "ENSP00000537000.1",
"transcript_support_level": null,
"aa_start": 1276,
"aa_end": null,
"aa_length": 1366,
"cds_start": 3827,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866941.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3827A>G",
"hgvs_p": "p.Tyr1276Cys",
"transcript": "ENST00000926022.1",
"protein_id": "ENSP00000596081.1",
"transcript_support_level": null,
"aa_start": 1276,
"aa_end": null,
"aa_length": 1366,
"cds_start": 3827,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926022.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3824A>G",
"hgvs_p": "p.Tyr1275Cys",
"transcript": "ENST00000926019.1",
"protein_id": "ENSP00000596078.1",
"transcript_support_level": null,
"aa_start": 1275,
"aa_end": null,
"aa_length": 1365,
"cds_start": 3824,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926019.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3782A>G",
"hgvs_p": "p.Tyr1261Cys",
"transcript": "ENST00000926020.1",
"protein_id": "ENSP00000596079.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 1351,
"cds_start": 3782,
"cds_end": null,
"cds_length": 4056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926020.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3764A>G",
"hgvs_p": "p.Tyr1255Cys",
"transcript": "ENST00000926017.1",
"protein_id": "ENSP00000596076.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1345,
"cds_start": 3764,
"cds_end": null,
"cds_length": 4038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926017.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3740A>G",
"hgvs_p": "p.Tyr1247Cys",
"transcript": "NM_001100412.2",
"protein_id": "NP_001093882.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3740,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100412.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3740A>G",
"hgvs_p": "p.Tyr1247Cys",
"transcript": "ENST00000866938.1",
"protein_id": "ENSP00000536997.1",
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"phenotype_combined": "not specified",
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}
],
"message": null
}