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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: 10-88938111-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=88938111&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACTA2",
"hgnc_id": 130,
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_001613.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "STAMBPL1",
"hgnc_id": 24105,
"hgvs_c": "c.1254+15675G>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000371927.7",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ACTA2-AS1",
"hgnc_id": 45169,
"hgvs_c": "n.1240-101G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000437930.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Strong",
"acmg_score": 7,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9981,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.52,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9928880929946899,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1349,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001613.4",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000224784.10",
"protein_coding": true,
"protein_id": "NP_001604.1",
"strand": false,
"transcript": "NM_001613.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1349,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000224784.10",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001613.4",
"protein_coding": true,
"protein_id": "ENSP00000224784.6",
"strand": false,
"transcript": "ENST00000224784.10",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 391,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1391,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 1176,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000713598.1",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.982C>G",
"hgvs_p": "p.Arg328Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518894.1",
"strand": false,
"transcript": "ENST00000713598.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1705,
"cdna_start": 1362,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001141945.3",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135417.1",
"strand": false,
"transcript": "NM_001141945.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1622,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001320855.2",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307784.1",
"strand": false,
"transcript": "NM_001320855.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 1437,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001406462.1",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393391.1",
"strand": false,
"transcript": "NM_001406462.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1863,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001406463.1",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393392.1",
"strand": false,
"transcript": "NM_001406463.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1494,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001406464.1",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393393.1",
"strand": false,
"transcript": "NM_001406464.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1694,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000415557.2",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396730.2",
"strand": false,
"transcript": "ENST00000415557.2",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1617,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000458159.6",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398239.2",
"strand": false,
"transcript": "ENST00000458159.6",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1805,
"cdna_start": 1210,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000713597.1",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518893.1",
"strand": false,
"transcript": "ENST00000713597.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1379,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000713599.1",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518895.1",
"strand": false,
"transcript": "ENST00000713599.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1761,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000713602.1",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518898.1",
"strand": false,
"transcript": "ENST00000713602.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1451,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000903375.1",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573434.1",
"strand": false,
"transcript": "ENST00000903375.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1515,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000903377.1",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573436.1",
"strand": false,
"transcript": "ENST00000903377.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1404,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000946937.1",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616996.1",
"strand": false,
"transcript": "ENST00000946937.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1409,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000946938.1",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616997.1",
"strand": false,
"transcript": "ENST00000946938.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1789,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000946939.1",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616998.1",
"strand": false,
"transcript": "ENST00000946939.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1490,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000946940.1",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616999.1",
"strand": false,
"transcript": "ENST00000946940.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2320,
"cdna_start": 1979,
"cds_end": null,
"cds_length": 1134,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000946942.1",
"gene_hgnc_id": 130,
"gene_symbol": "ACTA2",
"hgvs_c": "c.940C>G",
"hgvs_p": "p.Arg314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617001.1",
"strand": false,
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