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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: 11-65866959-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65866959&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EFEMP2",
"hgnc_id": 3219,
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Val431Ile",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_016938.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MUS81",
"hgnc_id": 29814,
"hgvs_c": "n.38-298C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000525006.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1102,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Cardiovascular phenotype",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3133915066719055,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "V",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1934,
"cdna_start": 1416,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_016938.5",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Val431Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000307998.11",
"protein_coding": true,
"protein_id": "NP_058634.4",
"strand": false,
"transcript": "NM_016938.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "V",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1934,
"cdna_start": 1416,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000307998.11",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Val431Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016938.5",
"protein_coding": true,
"protein_id": "ENSP00000309953.6",
"strand": false,
"transcript": "ENST00000307998.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000531972.5",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "n.1291G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435295.1",
"strand": false,
"transcript": "ENST00000531972.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 516,
"aa_ref": "V",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1718,
"cdna_start": 1604,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1510,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000907927.1",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Val504Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577986.1",
"strand": false,
"transcript": "ENST00000907927.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 471,
"aa_ref": "V",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": 1538,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1375,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000947418.1",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1375G>A",
"hgvs_p": "p.Val459Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617477.1",
"strand": false,
"transcript": "ENST00000947418.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 445,
"aa_ref": "V",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1297,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907924.1",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Val433Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577983.1",
"strand": false,
"transcript": "ENST00000907924.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "V",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1933,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907916.1",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Val431Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577975.1",
"strand": false,
"transcript": "ENST00000907916.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "V",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2485,
"cdna_start": 1967,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907917.1",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Val431Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577976.1",
"strand": false,
"transcript": "ENST00000907917.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "V",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1573,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000907918.1",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Val431Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577977.1",
"strand": false,
"transcript": "ENST00000907918.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "V",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": 1424,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907919.1",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Val431Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577978.1",
"strand": false,
"transcript": "ENST00000907919.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "V",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1912,
"cdna_start": 1400,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000907920.1",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Val431Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577979.1",
"strand": false,
"transcript": "ENST00000907920.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "V",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1900,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907922.1",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Val431Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577981.1",
"strand": false,
"transcript": "ENST00000907922.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "V",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1894,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907923.1",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Val431Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577982.1",
"strand": false,
"transcript": "ENST00000907923.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "V",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2365,
"cdna_start": 1848,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000947415.1",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Val431Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617474.1",
"strand": false,
"transcript": "ENST00000947415.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "V",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2251,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000947416.1",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Val431Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617475.1",
"strand": false,
"transcript": "ENST00000947416.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "V",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2015,
"cdna_start": 1888,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000947417.1",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Val431Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617476.1",
"strand": false,
"transcript": "ENST00000947417.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 443,
"aa_ref": "V",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1957,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000947419.1",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Val431Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617478.1",
"strand": false,
"transcript": "ENST00000947419.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 442,
"aa_ref": "V",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1910,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1288,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907921.1",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Val430Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577980.1",
"strand": false,
"transcript": "ENST00000907921.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 442,
"aa_ref": "V",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1687,
"cdna_start": 1556,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1288,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000947421.1",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Val430Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617480.1",
"strand": false,
"transcript": "ENST00000947421.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 402,
"aa_ref": "V",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1398,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 1209,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907925.1",
"gene_hgnc_id": 3219,
"gene_symbol": "EFEMP2",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Val390Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577984.1",
"strand": false,
"transcript": "ENST00000907925.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 385,
"aa_ref": "V",
"aa_start": 373,
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