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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: 1-156937323-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156937323&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARHGEF11",
"hgnc_id": 14580,
"hgvs_c": "c.4366A>T",
"hgvs_p": "p.Ser1456Cys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_198236.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LRRC71",
"hgnc_id": 26556,
"hgvs_c": "c.1330-3732T>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "XM_017000459.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0846,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.28803932666778564,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1562,
"aa_ref": "S",
"aa_start": 1456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7261,
"cdna_start": 5778,
"cds_end": null,
"cds_length": 4689,
"cds_start": 4366,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_198236.3",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4366A>T",
"hgvs_p": "p.Ser1456Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368194.8",
"protein_coding": true,
"protein_id": "NP_937879.1",
"strand": false,
"transcript": "NM_198236.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1562,
"aa_ref": "S",
"aa_start": 1456,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7261,
"cdna_start": 5778,
"cds_end": null,
"cds_length": 4689,
"cds_start": 4366,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000368194.8",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4366A>T",
"hgvs_p": "p.Ser1456Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198236.3",
"protein_coding": true,
"protein_id": "ENSP00000357177.3",
"strand": false,
"transcript": "ENST00000368194.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1522,
"aa_ref": "S",
"aa_start": 1416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5788,
"cdna_start": 4989,
"cds_end": null,
"cds_length": 4569,
"cds_start": 4246,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000361409.2",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4246A>T",
"hgvs_p": "p.Ser1416Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354644.2",
"strand": false,
"transcript": "ENST00000361409.2",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1578,
"aa_ref": "S",
"aa_start": 1472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7309,
"cdna_start": 5826,
"cds_end": null,
"cds_length": 4737,
"cds_start": 4414,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000715594.1",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4414A>T",
"hgvs_p": "p.Ser1472Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520488.1",
"strand": false,
"transcript": "ENST00000715594.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1563,
"aa_ref": "S",
"aa_start": 1457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6620,
"cdna_start": 5257,
"cds_end": null,
"cds_length": 4692,
"cds_start": 4369,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000956715.1",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4369A>T",
"hgvs_p": "p.Ser1457Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626774.1",
"strand": false,
"transcript": "ENST00000956715.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1559,
"aa_ref": "S",
"aa_start": 1453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6328,
"cdna_start": 4845,
"cds_end": null,
"cds_length": 4680,
"cds_start": 4357,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001377418.1",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4357A>T",
"hgvs_p": "p.Ser1453Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364347.1",
"strand": false,
"transcript": "NM_001377418.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1558,
"aa_ref": "S",
"aa_start": 1452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6325,
"cdna_start": 4842,
"cds_end": null,
"cds_length": 4677,
"cds_start": 4354,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000715595.1",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4354A>T",
"hgvs_p": "p.Ser1452Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520489.1",
"strand": false,
"transcript": "ENST00000715595.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1552,
"aa_ref": "S",
"aa_start": 1446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7231,
"cdna_start": 5748,
"cds_end": null,
"cds_length": 4659,
"cds_start": 4336,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001377419.1",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4336A>T",
"hgvs_p": "p.Ser1446Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364348.1",
"strand": false,
"transcript": "NM_001377419.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1552,
"aa_ref": "S",
"aa_start": 1446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7328,
"cdna_start": 5849,
"cds_end": null,
"cds_length": 4659,
"cds_start": 4336,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000956713.1",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4336A>T",
"hgvs_p": "p.Ser1446Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626772.1",
"strand": false,
"transcript": "ENST00000956713.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1538,
"aa_ref": "S",
"aa_start": 1432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7233,
"cdna_start": 5751,
"cds_end": null,
"cds_length": 4617,
"cds_start": 4294,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000956714.1",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4294A>T",
"hgvs_p": "p.Ser1432Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626773.1",
"strand": false,
"transcript": "ENST00000956714.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "S",
"aa_start": 1425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7282,
"cdna_start": 5802,
"cds_end": null,
"cds_length": 4596,
"cds_start": 4273,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000935553.1",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4273A>T",
"hgvs_p": "p.Ser1425Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605612.1",
"strand": false,
"transcript": "ENST00000935553.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1530,
"aa_ref": "S",
"aa_start": 1424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7295,
"cdna_start": 5812,
"cds_end": null,
"cds_length": 4593,
"cds_start": 4270,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000935551.1",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4270A>T",
"hgvs_p": "p.Ser1424Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605610.1",
"strand": false,
"transcript": "ENST00000935551.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1523,
"aa_ref": "S",
"aa_start": 1417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7284,
"cdna_start": 5802,
"cds_end": null,
"cds_length": 4572,
"cds_start": 4249,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000956711.1",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4249A>T",
"hgvs_p": "p.Ser1417Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626770.1",
"strand": false,
"transcript": "ENST00000956711.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1522,
"aa_ref": "S",
"aa_start": 1416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7141,
"cdna_start": 5658,
"cds_end": null,
"cds_length": 4569,
"cds_start": 4246,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_014784.4",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4246A>T",
"hgvs_p": "p.Ser1416Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055599.1",
"strand": false,
"transcript": "NM_014784.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1521,
"aa_ref": "S",
"aa_start": 1415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7251,
"cdna_start": 5771,
"cds_end": null,
"cds_length": 4566,
"cds_start": 4243,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000935554.1",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4243A>T",
"hgvs_p": "p.Ser1415Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605613.1",
"strand": false,
"transcript": "ENST00000935554.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1520,
"aa_ref": "S",
"aa_start": 1414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7198,
"cdna_start": 5715,
"cds_end": null,
"cds_length": 4563,
"cds_start": 4240,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000935557.1",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4240A>T",
"hgvs_p": "p.Ser1414Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605616.1",
"strand": false,
"transcript": "ENST00000935557.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1514,
"aa_ref": "S",
"aa_start": 1408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7219,
"cdna_start": 5743,
"cds_end": null,
"cds_length": 4545,
"cds_start": 4222,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000956712.1",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4222A>T",
"hgvs_p": "p.Ser1408Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626771.1",
"strand": false,
"transcript": "ENST00000956712.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1491,
"aa_ref": "S",
"aa_start": 1385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7148,
"cdna_start": 5665,
"cds_end": null,
"cds_length": 4476,
"cds_start": 4153,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000935556.1",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4153A>T",
"hgvs_p": "p.Ser1385Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605615.1",
"strand": false,
"transcript": "ENST00000935556.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1490,
"aa_ref": "S",
"aa_start": 1384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7159,
"cdna_start": 5676,
"cds_end": null,
"cds_length": 4473,
"cds_start": 4150,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000935552.1",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4150A>T",
"hgvs_p": "p.Ser1384Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605611.1",
"strand": false,
"transcript": "ENST00000935552.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1480,
"aa_ref": "S",
"aa_start": 1374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7122,
"cdna_start": 5639,
"cds_end": null,
"cds_length": 4443,
"cds_start": 4120,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000935555.1",
"gene_hgnc_id": 14580,
"gene_symbol": "ARHGEF11",
"hgvs_c": "c.4120A>T",
"hgvs_p": "p.Ser1374Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605614.1",
"strand": false,
"transcript": "ENST00000935555.1",
"transcript_support_level": null
},
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