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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: 18-33883351-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=33883351&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NOL4",
"hgnc_id": 7870,
"hgvs_c": "c.1685C>T",
"hgvs_p": "p.Pro562Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001384467.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.0781,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "18",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.24546584486961365,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 638,
"aa_ref": "P",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5319,
"cdna_start": 3276,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1616,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_003787.5",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Pro539Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261592.10",
"protein_coding": true,
"protein_id": "NP_003778.2",
"strand": false,
"transcript": "NM_003787.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 638,
"aa_ref": "P",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5319,
"cdna_start": 3276,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1616,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000261592.10",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Pro539Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003787.5",
"protein_coding": true,
"protein_id": "ENSP00000261592.4",
"strand": false,
"transcript": "ENST00000261592.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 536,
"aa_ref": "P",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2221,
"cdna_start": 1528,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000589544.5",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.1310C>T",
"hgvs_p": "p.Pro437Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465450.1",
"strand": false,
"transcript": "ENST00000589544.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 661,
"aa_ref": "P",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5388,
"cdna_start": 3345,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1685,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001384467.1",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.1685C>T",
"hgvs_p": "p.Pro562Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371396.1",
"strand": false,
"transcript": "NM_001384467.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 597,
"aa_ref": "P",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5196,
"cdna_start": 3153,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1493,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001384468.1",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.1493C>T",
"hgvs_p": "p.Pro498Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371397.1",
"strand": false,
"transcript": "NM_001384468.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 595,
"aa_ref": "P",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5190,
"cdna_start": 3147,
"cds_end": null,
"cds_length": 1788,
"cds_start": 1487,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001384469.1",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.1487C>T",
"hgvs_p": "p.Pro496Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371398.1",
"strand": false,
"transcript": "NM_001384469.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 574,
"aa_ref": "P",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3765,
"cdna_start": 1722,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1424,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001198546.1",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Pro475Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185475.1",
"strand": false,
"transcript": "NM_001198546.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3846,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001198547.2",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Pro465Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185476.1",
"strand": false,
"transcript": "NM_001198547.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1979,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000538587.5",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Pro465Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443472.1",
"strand": false,
"transcript": "ENST00000538587.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 558,
"aa_ref": "P",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1930,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1376,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000590712.5",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.1376C>T",
"hgvs_p": "p.Pro459Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467629.1",
"strand": false,
"transcript": "ENST00000590712.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 536,
"aa_ref": "P",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3651,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001198548.1",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.1310C>T",
"hgvs_p": "p.Pro437Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185477.1",
"strand": false,
"transcript": "NM_001198548.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 524,
"aa_ref": "P",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3547,
"cdna_start": 2829,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1274,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000867151.1",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.1274C>T",
"hgvs_p": "p.Pro425Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537210.1",
"strand": false,
"transcript": "ENST00000867151.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 500,
"aa_ref": "P",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3654,
"cdna_start": 1611,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1202,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001353234.2",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.1202C>T",
"hgvs_p": "p.Pro401Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340163.1",
"strand": false,
"transcript": "NM_001353234.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 483,
"aa_ref": "P",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3887,
"cdna_start": 1844,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1151,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001353235.2",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Pro384Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340164.1",
"strand": false,
"transcript": "NM_001353235.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 460,
"aa_ref": "P",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4210,
"cdna_start": 2167,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1082,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001384470.1",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.1082C>T",
"hgvs_p": "p.Pro361Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371399.1",
"strand": false,
"transcript": "NM_001384470.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "P",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3695,
"cdna_start": 1652,
"cds_end": null,
"cds_length": 1260,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001282527.2",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.959C>T",
"hgvs_p": "p.Pro320Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269456.1",
"strand": false,
"transcript": "NM_001282527.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "P",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3806,
"cdna_start": 1763,
"cds_end": null,
"cds_length": 1260,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001353237.1",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.959C>T",
"hgvs_p": "p.Pro320Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340166.1",
"strand": false,
"transcript": "NM_001353237.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "P",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5237,
"cdna_start": 3194,
"cds_end": null,
"cds_length": 1260,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001384471.1",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.959C>T",
"hgvs_p": "p.Pro320Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371400.1",
"strand": false,
"transcript": "NM_001384471.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 387,
"aa_ref": "P",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4169,
"cdna_start": 2126,
"cds_end": null,
"cds_length": 1164,
"cds_start": 863,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001353233.1",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Pro288Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340162.1",
"strand": false,
"transcript": "NM_001353233.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "P",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3061,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1062,
"cds_start": 761,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001198549.2",
"gene_hgnc_id": 7870,
"gene_symbol": "NOL4",
"hgvs_c": "c.761C>T",
"hgvs_p": "p.Pro254Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185478.1",
"strand": false,
"transcript": "NM_001198549.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "P",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5425,
"cdna_start": 3382,
"cds_end": null,
"cds_length": 1062,
"cds_start": 761,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001384472.1",
"gene_hgnc_id": 7870,
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