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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: 22-50525787-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50525787&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50525787,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000252029.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.1432C>G",
"hgvs_p": "p.Leu478Val",
"transcript": "NM_001953.5",
"protein_id": "NP_001944.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 482,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": "ENST00000252029.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.1432C>G",
"hgvs_p": "p.Leu478Val",
"transcript": "ENST00000252029.8",
"protein_id": "ENSP00000252029.3",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 482,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": "NM_001953.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.1447C>G",
"hgvs_p": "p.Leu483Val",
"transcript": "ENST00000395681.6",
"protein_id": "ENSP00000379038.1",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 487,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.1432C>G",
"hgvs_p": "p.Leu478Val",
"transcript": "ENST00000395678.7",
"protein_id": "ENSP00000379036.3",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 482,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 1614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.1432C>G",
"hgvs_p": "p.Leu478Val",
"transcript": "ENST00000395680.6",
"protein_id": "ENSP00000379037.1",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 482,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 1621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.1432C>G",
"hgvs_p": "p.Leu478Val",
"transcript": "ENST00000487577.5",
"protein_id": "ENSP00000498844.1",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 482,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 1751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.1447C>G",
"hgvs_p": "p.Leu483Val",
"transcript": "NM_001257989.1",
"protein_id": "NP_001244918.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 487,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.1432C>G",
"hgvs_p": "p.Leu478Val",
"transcript": "NM_001113755.3",
"protein_id": "NP_001107227.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 482,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.1432C>G",
"hgvs_p": "p.Leu478Val",
"transcript": "NM_001113756.3",
"protein_id": "NP_001107228.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 482,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 1770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.1432C>G",
"hgvs_p": "p.Leu478Val",
"transcript": "NM_001257988.1",
"protein_id": "NP_001244917.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 482,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 1694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.223C>G",
"hgvs_p": "p.Leu75Val",
"transcript": "ENST00000651490.1",
"protein_id": "ENSP00000498433.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 79,
"cds_start": 223,
"cds_end": null,
"cds_length": 240,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.1333C>G",
"hgvs_p": "p.Leu445Val",
"transcript": "ENST00000425169.1",
"protein_id": "ENSP00000395875.1",
"transcript_support_level": 5,
"aa_start": 445,
"aa_end": null,
"aa_length": 444,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 1432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "n.1542C>G",
"hgvs_p": null,
"transcript": "ENST00000476284.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.-14+459C>G",
"hgvs_p": null,
"transcript": "NM_001169109.2",
"protein_id": "NP_001162580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": -4,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.-14+214C>G",
"hgvs_p": null,
"transcript": "NM_001169110.1",
"protein_id": "NP_001162581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": -4,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.-14+214C>G",
"hgvs_p": null,
"transcript": "ENST00000535425.5",
"protein_id": "ENSP00000444242.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": -4,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.-14+459C>G",
"hgvs_p": null,
"transcript": "ENST00000543927.6",
"protein_id": "ENSP00000444433.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": -4,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.-14+214C>G",
"hgvs_p": null,
"transcript": "ENST00000638598.2",
"protein_id": "ENSP00000491753.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.-329C>G",
"hgvs_p": null,
"transcript": "NM_005138.3",
"protein_id": "NP_005129.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": -4,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 984,
"mane_select": "ENST00000395693.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.-329C>G",
"hgvs_p": null,
"transcript": "ENST00000395693.8",
"protein_id": "ENSP00000379046.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": -4,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 984,
"mane_select": "NM_005138.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.-359C>G",
"hgvs_p": null,
"transcript": "NM_001169111.2",
"protein_id": "NP_001162582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": -4,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.-359C>G",
"hgvs_p": null,
"transcript": "ENST00000252785.3",
"protein_id": "ENSP00000252785.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": -4,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYMP",
"gene_hgnc_id": 3148,
"hgvs_c": "c.*67C>G",
"hgvs_p": null,
"transcript": "ENST00000652401.1",
"protein_id": "ENSP00000498619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": -4,
"cds_end": null,
"cds_length": 864,
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}
],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
"score": 0,
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"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000252029.8",
"gene_symbol": "TYMP",
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"effects": [
"missense_variant"
],
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"hgvs_p": "p.Leu478Val"
},
{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001169109.2",
"gene_symbol": "SCO2",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.-14+459C>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}