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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: 20-32800916-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=32800916&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 32800916,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000328111.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Gly663Ser",
"transcript": "NM_006892.4",
"protein_id": "NP_008823.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 853,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": "ENST00000328111.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Gly663Ser",
"transcript": "ENST00000328111.6",
"protein_id": "ENSP00000328547.2",
"transcript_support_level": 1,
"aa_start": 663,
"aa_end": null,
"aa_length": 853,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": "NM_006892.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Gly655Ser",
"transcript": "ENST00000201963.3",
"protein_id": "ENSP00000201963.3",
"transcript_support_level": 1,
"aa_start": 655,
"aa_end": null,
"aa_length": 845,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 4255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1927G>A",
"hgvs_p": "p.Gly643Ser",
"transcript": "ENST00000348286.6",
"protein_id": "ENSP00000337764.2",
"transcript_support_level": 1,
"aa_start": 643,
"aa_end": null,
"aa_length": 770,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2209,
"cdna_end": null,
"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Gly655Ser",
"transcript": "NM_175850.3",
"protein_id": "NP_787046.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 845,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 4255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1927G>A",
"hgvs_p": "p.Gly643Ser",
"transcript": "NM_175848.2",
"protein_id": "NP_787044.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 833,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1927G>A",
"hgvs_p": "p.Gly643Ser",
"transcript": "ENST00000353855.6",
"protein_id": "ENSP00000313397.4",
"transcript_support_level": 5,
"aa_start": 643,
"aa_end": null,
"aa_length": 833,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2209,
"cdna_end": null,
"cdna_length": 4237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Gly663Ser",
"transcript": "NM_001424351.1",
"protein_id": "NP_001411280.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 812,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1861G>A",
"hgvs_p": "p.Gly621Ser",
"transcript": "NM_001424352.1",
"protein_id": "NP_001411281.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 811,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1927G>A",
"hgvs_p": "p.Gly643Ser",
"transcript": "NM_001424353.1",
"protein_id": "NP_001411282.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 792,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Gly601Ser",
"transcript": "NM_001424354.1",
"protein_id": "NP_001411283.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 791,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 4150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Gly663Ser",
"transcript": "NM_001424355.1",
"protein_id": "NP_001411284.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 790,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Gly663Ser",
"transcript": "ENST00000696232.1",
"protein_id": "ENSP00000512498.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 790,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 4150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Gly655Ser",
"transcript": "NM_001424359.1",
"protein_id": "NP_001411288.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 782,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1768G>A",
"hgvs_p": "p.Gly590Ser",
"transcript": "ENST00000696239.1",
"protein_id": "ENSP00000512503.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 780,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1768,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1861G>A",
"hgvs_p": "p.Gly621Ser",
"transcript": "NM_001424356.1",
"protein_id": "NP_001411285.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 770,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 4091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1927G>A",
"hgvs_p": "p.Gly643Ser",
"transcript": "NM_175849.2",
"protein_id": "NP_787045.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 770,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 4087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Gly601Ser",
"transcript": "NM_001424357.1",
"protein_id": "NP_001411286.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 750,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 4031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1861G>A",
"hgvs_p": "p.Gly621Ser",
"transcript": "NM_001424358.1",
"protein_id": "NP_001411287.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 748,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1837G>A",
"hgvs_p": "p.Gly613Ser",
"transcript": "NM_001424360.1",
"protein_id": "NP_001411289.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 740,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 2101,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Gly601Ser",
"transcript": "NM_001207055.2",
"protein_id": "NP_001193984.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 728,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Gly601Ser",
"transcript": "ENST00000443239.7",
"protein_id": "ENSP00000403169.2",
"transcript_support_level": 2,
"aa_start": 601,
"aa_end": null,
"aa_length": 728,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Immunodeficiency-centromeric instability-facial anomalies syndrome 1",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
"message": null
}