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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: 1-45330521-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45330521&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM1",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MUTYH",
"hgnc_id": 7527,
"hgvs_c": "c.1513T>G",
"hgvs_p": "p.Cys505Gly",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001128425.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000288208",
"hgnc_id": null,
"hgvs_c": "n.2017T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000671898.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.0554,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Familial adenomatous polyposis 2,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:9",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07170683145523071,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 549,
"aa_ref": "C",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1900,
"cdna_start": 1699,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1513,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001128425.2",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1513T>G",
"hgvs_p": "p.Cys505Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000710952.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121897.1",
"strand": false,
"transcript": "NM_001128425.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 549,
"aa_ref": "C",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1900,
"cdna_start": 1699,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1513,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000710952.2",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1513T>G",
"hgvs_p": "p.Cys505Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001128425.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518552.2",
"strand": false,
"transcript": "ENST00000710952.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 521,
"aa_ref": "C",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1429,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001048174.2",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1429T>G",
"hgvs_p": "p.Cys477Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000456914.7",
"protein_coding": true,
"protein_id": "NP_001041639.1",
"strand": false,
"transcript": "NM_001048174.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 521,
"aa_ref": "C",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1429,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000456914.7",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1429T>G",
"hgvs_p": "p.Cys477Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001048174.2",
"protein_coding": true,
"protein_id": "ENSP00000407590.2",
"strand": false,
"transcript": "ENST00000456914.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 546,
"aa_ref": "C",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 1638,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000372098.7",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1504T>G",
"hgvs_p": "p.Cys502Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361170.3",
"strand": false,
"transcript": "ENST00000372098.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 536,
"aa_ref": "C",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1474,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000372110.7",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1474T>G",
"hgvs_p": "p.Cys492Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361182.3",
"strand": false,
"transcript": "ENST00000372110.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 535,
"aa_ref": "C",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 1687,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1471,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000372115.7",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1471T>G",
"hgvs_p": "p.Cys491Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361187.3",
"strand": false,
"transcript": "ENST00000372115.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 532,
"aa_ref": "C",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1706,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1462,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000448481.5",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1462T>G",
"hgvs_p": "p.Cys488Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409718.1",
"strand": false,
"transcript": "ENST00000448481.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 522,
"aa_ref": "C",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1744,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1432,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000354383.10",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1432T>G",
"hgvs_p": "p.Cys478Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346354.6",
"strand": false,
"transcript": "ENST00000354383.10",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 521,
"aa_ref": "C",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1429,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000355498.6",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1429T>G",
"hgvs_p": "p.Cys477Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347685.2",
"strand": false,
"transcript": "ENST00000355498.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 521,
"aa_ref": "C",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1823,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1429,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000372104.5",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1429T>G",
"hgvs_p": "p.Cys477Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361176.1",
"strand": false,
"transcript": "ENST00000372104.5",
"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": 1677,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000475516.5",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "n.*1242T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433843.1",
"strand": false,
"transcript": "ENST00000475516.5",
"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": 1742,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000481571.5",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "n.*1242T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436597.1",
"strand": false,
"transcript": "ENST00000481571.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2768,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000671898.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288208",
"hgvs_c": "n.2017T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499896.1",
"strand": false,
"transcript": "ENST00000671898.1",
"transcript_support_level": null
},
{
"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": 1677,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000475516.5",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "n.*1242T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433843.1",
"strand": false,
"transcript": "ENST00000475516.5",
"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": 1742,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000481571.5",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "n.*1242T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436597.1",
"strand": false,
"transcript": "ENST00000481571.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 546,
"aa_ref": "C",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_012222.3",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1504T>G",
"hgvs_p": "p.Cys502Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_036354.1",
"strand": false,
"transcript": "NM_012222.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 546,
"aa_ref": "C",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000672818.3",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1504T>G",
"hgvs_p": "p.Cys502Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500891.1",
"strand": false,
"transcript": "ENST00000672818.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 536,
"aa_ref": "C",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1861,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1474,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001293190.2",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1474T>G",
"hgvs_p": "p.Cys492Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001280119.1",
"strand": false,
"transcript": "NM_001293190.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 535,
"aa_ref": "C",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1823,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1471,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001407083.1",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1471T>G",
"hgvs_p": "p.Cys491Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394012.1",
"strand": false,
"transcript": "NM_001407083.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 535,
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