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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: 1-45332039-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45332039&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MUTYH",
"hgnc_id": 7527,
"hgvs_c": "c.981T>C",
"hgvs_p": "p.Pro327Pro",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_001128425.2",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000288208",
"hgnc_id": null,
"hgvs_c": "n.1485T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -10,
"transcript": "ENST00000671898.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_score": -11,
"allele_count_reference_population": 25,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Familial adenomatous polyposis 2,Hereditary cancer-predisposing syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08699999749660492,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 549,
"aa_ref": "P",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1900,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1650,
"cds_start": 981,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001128425.2",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.981T>C",
"hgvs_p": "p.Pro327Pro",
"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": "P",
"aa_end": null,
"aa_length": 549,
"aa_ref": "P",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1900,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1650,
"cds_start": 981,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000710952.2",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.981T>C",
"hgvs_p": "p.Pro327Pro",
"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": "P",
"aa_end": null,
"aa_length": 521,
"aa_ref": "P",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1566,
"cds_start": 897,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001048174.2",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.897T>C",
"hgvs_p": "p.Pro299Pro",
"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": "P",
"aa_end": null,
"aa_length": 521,
"aa_ref": "P",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1566,
"cds_start": 897,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000456914.7",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.897T>C",
"hgvs_p": "p.Pro299Pro",
"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": "P",
"aa_end": null,
"aa_length": 546,
"aa_ref": "P",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 1106,
"cds_end": null,
"cds_length": 1641,
"cds_start": 972,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000372098.7",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.972T>C",
"hgvs_p": "p.Pro324Pro",
"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": "P",
"aa_end": null,
"aa_length": 536,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 1611,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000372110.7",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.942T>C",
"hgvs_p": "p.Pro314Pro",
"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": "P",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 1608,
"cds_start": 939,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000372115.7",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.939T>C",
"hgvs_p": "p.Pro313Pro",
"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": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "P",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1706,
"cdna_start": 973,
"cds_end": null,
"cds_length": 1599,
"cds_start": 930,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000448481.5",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.930T>C",
"hgvs_p": "p.Pro310Pro",
"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": "P",
"aa_end": null,
"aa_length": 522,
"aa_ref": "P",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1744,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1569,
"cds_start": 900,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000354383.10",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.900T>C",
"hgvs_p": "p.Pro300Pro",
"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": "P",
"aa_end": null,
"aa_length": 521,
"aa_ref": "P",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 1566,
"cds_start": 897,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000355498.6",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.897T>C",
"hgvs_p": "p.Pro299Pro",
"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": "P",
"aa_end": null,
"aa_length": 521,
"aa_ref": "P",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1823,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 1566,
"cds_start": 897,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000372104.5",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.897T>C",
"hgvs_p": "p.Pro299Pro",
"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": 11,
"exon_rank_end": null,
"feature": "ENST00000475516.5",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "n.*710T>C",
"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": 11,
"exon_rank_end": null,
"feature": "ENST00000481571.5",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "n.*710T>C",
"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": 15,
"exon_rank_end": null,
"feature": "ENST00000671898.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288208",
"hgvs_c": "n.1485T>C",
"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": 11,
"exon_rank_end": null,
"feature": "ENST00000475516.5",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "n.*710T>C",
"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": 11,
"exon_rank_end": null,
"feature": "ENST00000481571.5",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "n.*710T>C",
"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": "P",
"aa_end": null,
"aa_length": 546,
"aa_ref": "P",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 1641,
"cds_start": 972,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_012222.3",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.972T>C",
"hgvs_p": "p.Pro324Pro",
"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": "P",
"aa_end": null,
"aa_length": 546,
"aa_ref": "P",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 1641,
"cds_start": 972,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000672818.3",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.972T>C",
"hgvs_p": "p.Pro324Pro",
"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": "P",
"aa_end": null,
"aa_length": 536,
"aa_ref": "P",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1861,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1611,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001293190.2",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.942T>C",
"hgvs_p": "p.Pro314Pro",
"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": "P",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1823,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 1608,
"cds_start": 939,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001407083.1",
"gene_hgnc_id": 7527,
"gene_symbol": "MUTYH",
"hgvs_c": "c.939T>C",
"hgvs_p": "p.Pro313Pro",
"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": "P",
"aa_end": null,
"aa_length": 535,
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