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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: 10-125815061-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=125815061&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UROS",
"hgnc_id": 12592,
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001324036.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.319,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.858069896697998,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 265,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1336,
"cdna_start": 473,
"cds_end": null,
"cds_length": 798,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000375.3",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368797.10",
"protein_coding": true,
"protein_id": "NP_000366.1",
"strand": false,
"transcript": "NM_000375.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 265,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1336,
"cdna_start": 473,
"cds_end": null,
"cds_length": 798,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000368797.10",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000375.3",
"protein_coding": true,
"protein_id": "ENSP00000357787.4",
"strand": false,
"transcript": "ENST00000368797.10",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 265,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1216,
"cdna_start": 350,
"cds_end": null,
"cds_length": 798,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000368786.5",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357775.1",
"strand": false,
"transcript": "ENST00000368786.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 325,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1544,
"cdna_start": 498,
"cds_end": null,
"cds_length": 978,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000940865.1",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610924.1",
"strand": false,
"transcript": "ENST00000940865.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 324,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1502,
"cdna_start": 460,
"cds_end": null,
"cds_length": 975,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879953.1",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550012.1",
"strand": false,
"transcript": "ENST00000879953.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1492,
"cdna_start": 473,
"cds_end": null,
"cds_length": 954,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879950.1",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550009.1",
"strand": false,
"transcript": "ENST00000879950.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 317,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1315,
"cdna_start": 295,
"cds_end": null,
"cds_length": 954,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000940867.1",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610926.1",
"strand": false,
"transcript": "ENST00000940867.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 299,
"aa_ref": "C",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1447,
"cdna_start": 503,
"cds_end": null,
"cds_length": 900,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000940866.1",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.238T>G",
"hgvs_p": "p.Cys80Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610925.1",
"strand": false,
"transcript": "ENST00000940866.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 298,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1389,
"cdna_start": 429,
"cds_end": null,
"cds_length": 897,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879956.1",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550015.1",
"strand": false,
"transcript": "ENST00000879956.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 292,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1417,
"cdna_start": 473,
"cds_end": null,
"cds_length": 879,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001324036.2",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310965.1",
"strand": false,
"transcript": "NM_001324036.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 292,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1172,
"cdna_start": 228,
"cds_end": null,
"cds_length": 879,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000650587.1",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497366.1",
"strand": false,
"transcript": "ENST00000650587.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 282,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1391,
"cdna_start": 471,
"cds_end": null,
"cds_length": 849,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879945.1",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550004.1",
"strand": false,
"transcript": "ENST00000879945.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 272,
"aa_ref": "C",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1316,
"cdna_start": 450,
"cds_end": null,
"cds_length": 819,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879955.1",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.238T>G",
"hgvs_p": "p.Cys80Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550014.1",
"strand": false,
"transcript": "ENST00000879955.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 267,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1342,
"cdna_start": 470,
"cds_end": null,
"cds_length": 804,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000961000.1",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631059.1",
"strand": false,
"transcript": "ENST00000961000.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 265,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1336,
"cdna_start": 473,
"cds_end": null,
"cds_length": 798,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001324037.2",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310966.1",
"strand": false,
"transcript": "NM_001324037.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 265,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1279,
"cdna_start": 416,
"cds_end": null,
"cds_length": 798,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000649536.1",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497817.1",
"strand": false,
"transcript": "ENST00000649536.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 265,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1366,
"cdna_start": 503,
"cds_end": null,
"cds_length": 798,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000713579.1",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518871.1",
"strand": false,
"transcript": "ENST00000713579.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 265,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1195,
"cdna_start": 325,
"cds_end": null,
"cds_length": 798,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879943.1",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550002.1",
"strand": false,
"transcript": "ENST00000879943.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 265,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1437,
"cdna_start": 569,
"cds_end": null,
"cds_length": 798,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000879944.1",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550003.1",
"strand": false,
"transcript": "ENST00000879944.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 265,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1678,
"cdna_start": 813,
"cds_end": null,
"cds_length": 798,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879948.1",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550007.1",
"strand": false,
"transcript": "ENST00000879948.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 265,
"aa_ref": "C",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1883,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 798,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879949.1",
"gene_hgnc_id": 12592,
"gene_symbol": "UROS",
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Cys73Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550008.1",
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