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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: 1-45329389-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45329389&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MUTYH",
"hgnc_id": 7527,
"hgvs_c": "c.1567C>A",
"hgvs_p": "p.Arg523Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001128425.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000288208",
"hgnc_id": null,
"hgvs_c": "n.*226C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000671898.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0974,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03693503141403198,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1900,
"cdna_start": 1753,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1567,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001128425.2",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1567C>A",
"hgvs_p": "p.Arg523Ser",
"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": "S",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1900,
"cdna_start": 1753,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1567,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000710952.2",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1567C>A",
"hgvs_p": "p.Arg523Ser",
"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": "S",
"aa_end": null,
"aa_length": 521,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1483,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001048174.2",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1483C>A",
"hgvs_p": "p.Arg495Ser",
"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": "S",
"aa_end": null,
"aa_length": 521,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1483,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000456914.7",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1483C>A",
"hgvs_p": "p.Arg495Ser",
"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": "S",
"aa_end": null,
"aa_length": 546,
"aa_ref": "R",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 1692,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1558,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000372098.7",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1558C>A",
"hgvs_p": "p.Arg520Ser",
"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": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "R",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 1662,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000372110.7",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1528C>A",
"hgvs_p": "p.Arg510Ser",
"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": "S",
"aa_end": null,
"aa_length": 535,
"aa_ref": "R",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 1741,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000372115.7",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1525C>A",
"hgvs_p": "p.Arg509Ser",
"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": "S",
"aa_end": null,
"aa_length": 532,
"aa_ref": "R",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1706,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1516,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000448481.5",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1516C>A",
"hgvs_p": "p.Arg506Ser",
"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": "S",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1744,
"cdna_start": 1597,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000354383.10",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1486C>A",
"hgvs_p": "p.Arg496Ser",
"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": "S",
"aa_end": null,
"aa_length": 521,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": 1629,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1483,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000355498.6",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1483C>A",
"hgvs_p": "p.Arg495Ser",
"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": "S",
"aa_end": null,
"aa_length": 521,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1823,
"cdna_start": 1676,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1483,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000372104.5",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1483C>A",
"hgvs_p": "p.Arg495Ser",
"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": 16,
"exon_rank_end": null,
"feature": "ENST00000475516.5",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "n.*1296C>A",
"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": 16,
"exon_rank_end": null,
"feature": "ENST00000481571.5",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "n.*1296C>A",
"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": 21,
"exon_rank_end": null,
"feature": "ENST00000671898.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288208",
"hgvs_c": "n.*226C>A",
"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": 16,
"exon_rank_end": null,
"feature": "ENST00000475516.5",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "n.*1296C>A",
"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": 16,
"exon_rank_end": null,
"feature": "ENST00000481571.5",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "n.*1296C>A",
"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": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000671898.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288208",
"hgvs_c": "n.*226C>A",
"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": "S",
"aa_end": null,
"aa_length": 546,
"aa_ref": "R",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": 1744,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1558,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_012222.3",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1558C>A",
"hgvs_p": "p.Arg520Ser",
"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": "S",
"aa_end": null,
"aa_length": 546,
"aa_ref": "R",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": 1744,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1558,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000672818.3",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1558C>A",
"hgvs_p": "p.Arg520Ser",
"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": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "R",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1861,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001293190.2",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.1528C>A",
"hgvs_p": "p.Arg510Ser",
"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": "S",
"aa_end": null,
"aa_length": 535,
"aa_ref": "R",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1823,
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