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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: 8-144051372-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144051372&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144051372,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_017570.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "NM_017570.5",
"protein_id": "NP_060040.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000618853.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017570.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000618853.5",
"protein_id": "ENSP00000480476.1",
"transcript_support_level": 1,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017570.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618853.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3851A>T",
"hgvs_p": "p.Glu1284Val",
"transcript": "ENST00000894965.1",
"protein_id": "ENSP00000565024.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3851,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894965.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3845A>T",
"hgvs_p": "p.Glu1282Val",
"transcript": "ENST00000919620.1",
"protein_id": "ENSP00000589679.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3845,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919620.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000894953.1",
"protein_id": "ENSP00000565012.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894953.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000894954.1",
"protein_id": "ENSP00000565013.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894954.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000894955.1",
"protein_id": "ENSP00000565014.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894955.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000894956.1",
"protein_id": "ENSP00000565015.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894956.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000894957.1",
"protein_id": "ENSP00000565016.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894957.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000894958.1",
"protein_id": "ENSP00000565017.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894958.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000894959.1",
"protein_id": "ENSP00000565018.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894959.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000894960.1",
"protein_id": "ENSP00000565019.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894960.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000894961.1",
"protein_id": "ENSP00000565020.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894961.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000971668.1",
"protein_id": "ENSP00000641727.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971668.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000971669.1",
"protein_id": "ENSP00000641728.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971669.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000971670.1",
"protein_id": "ENSP00000641729.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971670.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000971671.1",
"protein_id": "ENSP00000641730.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971671.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000971672.1",
"protein_id": "ENSP00000641731.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971672.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000971674.1",
"protein_id": "ENSP00000641733.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971674.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000971676.1",
"protein_id": "ENSP00000641735.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971676.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000971678.1",
"protein_id": "ENSP00000641737.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3821,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971678.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3821A>T",
"hgvs_p": "p.Glu1274Val",
"transcript": "ENST00000971679.1",
"protein_id": "ENSP00000641738.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1288,
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{
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"BS1",
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],
"verdict": "Benign",
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{
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"criteria": [
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"verdict": "Benign",
"transcript": "ENST00000686861.2",
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"effects": [
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{
"score": -16,
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"verdict": "Benign",
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"effects": [
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{
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"verdict": "Benign",
"transcript": "ENST00000639008.2",
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],
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"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "5-Oxoprolinase deficiency",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}