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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: 20-32800227-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=32800227&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM1",
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DNMT3B",
"hgnc_id": 2979,
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Ala612Thr",
"inheritance_mode": "AR,AD",
"pathogenic_score": 4,
"score": 2,
"transcript": "NM_006892.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4_Moderate",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.3184,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09891104698181152,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 853,
"aa_ref": "A",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4336,
"cdna_start": 2155,
"cds_end": null,
"cds_length": 2562,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_006892.4",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Ala612Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000328111.6",
"protein_coding": true,
"protein_id": "NP_008823.1",
"strand": true,
"transcript": "NM_006892.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 853,
"aa_ref": "A",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4336,
"cdna_start": 2155,
"cds_end": null,
"cds_length": 2562,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000328111.6",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Ala612Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006892.4",
"protein_coding": true,
"protein_id": "ENSP00000328547.2",
"strand": true,
"transcript": "ENST00000328111.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 845,
"aa_ref": "A",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4255,
"cdna_start": 2074,
"cds_end": null,
"cds_length": 2538,
"cds_start": 1810,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000201963.3",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1810G>A",
"hgvs_p": "p.Ala604Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000201963.3",
"strand": true,
"transcript": "ENST00000201963.3",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 770,
"aa_ref": "A",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4048,
"cdna_start": 2056,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1774,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000348286.6",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1774G>A",
"hgvs_p": "p.Ala592Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000337764.2",
"strand": true,
"transcript": "ENST00000348286.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 845,
"aa_ref": "A",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4255,
"cdna_start": 2074,
"cds_end": null,
"cds_length": 2538,
"cds_start": 1810,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_175850.3",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1810G>A",
"hgvs_p": "p.Ala604Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_787046.1",
"strand": true,
"transcript": "NM_175850.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 833,
"aa_ref": "A",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4276,
"cdna_start": 2095,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1774,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_175848.2",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1774G>A",
"hgvs_p": "p.Ala592Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_787044.1",
"strand": true,
"transcript": "NM_175848.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 833,
"aa_ref": "A",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4237,
"cdna_start": 2056,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1774,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000353855.6",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1774G>A",
"hgvs_p": "p.Ala592Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000313397.4",
"strand": true,
"transcript": "ENST00000353855.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 812,
"aa_ref": "A",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4217,
"cdna_start": 2155,
"cds_end": null,
"cds_length": 2439,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001424351.1",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Ala612Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411280.1",
"strand": true,
"transcript": "NM_001424351.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 811,
"aa_ref": "A",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4210,
"cdna_start": 2029,
"cds_end": null,
"cds_length": 2436,
"cds_start": 1708,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001424352.1",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1708G>A",
"hgvs_p": "p.Ala570Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411281.1",
"strand": true,
"transcript": "NM_001424352.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 792,
"aa_ref": "A",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": 2095,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1774,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001424353.1",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1774G>A",
"hgvs_p": "p.Ala592Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411282.1",
"strand": true,
"transcript": "NM_001424353.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 791,
"aa_ref": "A",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4150,
"cdna_start": 1969,
"cds_end": null,
"cds_length": 2376,
"cds_start": 1648,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001424354.1",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Ala550Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411283.1",
"strand": true,
"transcript": "NM_001424354.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 790,
"aa_ref": "A",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4147,
"cdna_start": 2155,
"cds_end": null,
"cds_length": 2373,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001424355.1",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Ala612Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411284.1",
"strand": true,
"transcript": "NM_001424355.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 790,
"aa_ref": "A",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4150,
"cdna_start": 2155,
"cds_end": null,
"cds_length": 2373,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000696232.1",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Ala612Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512498.1",
"strand": true,
"transcript": "ENST00000696232.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 782,
"aa_ref": "A",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4066,
"cdna_start": 2074,
"cds_end": null,
"cds_length": 2349,
"cds_start": 1810,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001424359.1",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1810G>A",
"hgvs_p": "p.Ala604Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411288.1",
"strand": true,
"transcript": "NM_001424359.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 780,
"aa_ref": "A",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2343,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 2343,
"cds_start": 1615,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000696239.1",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1615G>A",
"hgvs_p": "p.Ala539Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512503.1",
"strand": true,
"transcript": "ENST00000696239.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 770,
"aa_ref": "A",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4091,
"cdna_start": 2029,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1708,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001424356.1",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1708G>A",
"hgvs_p": "p.Ala570Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411285.1",
"strand": true,
"transcript": "NM_001424356.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 770,
"aa_ref": "A",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4087,
"cdna_start": 2095,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1774,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_175849.2",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1774G>A",
"hgvs_p": "p.Ala592Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_787045.1",
"strand": true,
"transcript": "NM_175849.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 750,
"aa_ref": "A",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4031,
"cdna_start": 1969,
"cds_end": null,
"cds_length": 2253,
"cds_start": 1648,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001424357.1",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Ala550Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411286.1",
"strand": true,
"transcript": "NM_001424357.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 748,
"aa_ref": "A",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4021,
"cdna_start": 2029,
"cds_end": null,
"cds_length": 2247,
"cds_start": 1708,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001424358.1",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1708G>A",
"hgvs_p": "p.Ala570Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411287.1",
"strand": true,
"transcript": "NM_001424358.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 740,
"aa_ref": "A",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3940,
"cdna_start": 1948,
"cds_end": null,
"cds_length": 2223,
"cds_start": 1684,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001424360.1",
"gene_hgnc_id": 2979,
"gene_symbol": "DNMT3B",
"hgvs_c": "c.1684G>A",
"hgvs_p": "p.Ala562Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411289.1",
"strand": true,
"transcript": "NM_001424360.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 728,
"aa_ref": "A",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3961,
"cdna_start": 1969,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1648,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001207055.2",
"gene_hgnc_id": 2979,
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