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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: 20-18406000-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=18406000&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DZANK1",
"hgnc_id": 15858,
"hgvs_c": "c.1507+6646T>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001367614.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 56036,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 777,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3420,
"cdna_start": null,
"cds_end": null,
"cds_length": 2334,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001367614.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.1507+6646T>C",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000699568.1",
"protein_coding": true,
"protein_id": "NP_001354543.1",
"strand": false,
"transcript": "NM_001367614.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 777,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3420,
"cdna_start": null,
"cds_end": null,
"cds_length": 2334,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699568.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.1507+6646T>C",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001367614.1",
"protein_coding": true,
"protein_id": "ENSP00000514442.1",
"strand": false,
"transcript": "ENST00000699568.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 763,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3138,
"cdna_start": null,
"cds_end": null,
"cds_length": 2292,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699590.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.1465+6646T>C",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514461.1",
"strand": false,
"transcript": "ENST00000699590.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 758,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": null,
"cds_end": null,
"cds_length": 2277,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699525.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.1450+6646T>C",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514418.1",
"strand": false,
"transcript": "ENST00000699525.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 559,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3739,
"cdna_start": null,
"cds_end": null,
"cds_length": 1680,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000357236.8",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.853+6646T>C",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349774.5",
"strand": false,
"transcript": "ENST00000357236.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 139,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 837,
"cdna_start": null,
"cds_end": null,
"cds_length": 420,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000480488.2",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.46+6646T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484666.1",
"strand": false,
"transcript": "ENST00000480488.2",
"transcript_support_level": 5
},
{
"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": 3295,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377630.9",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "n.*638+6646T>C",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000366857.6",
"strand": false,
"transcript": "ENST00000377630.9",
"transcript_support_level": 2
},
{
"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": 3156,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000460891.5",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "n.*1895+6646T>C",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000477872.1",
"strand": false,
"transcript": "ENST00000460891.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 780,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3446,
"cdna_start": null,
"cds_end": null,
"cds_length": 2343,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913456.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.1450+6646T>C",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583515.1",
"strand": false,
"transcript": "ENST00000913456.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 780,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3502,
"cdna_start": null,
"cds_end": null,
"cds_length": 2343,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913459.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.1450+6646T>C",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583518.1",
"strand": false,
"transcript": "ENST00000913459.1",
"transcript_support_level": null
},
{
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"aa_length": 778,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3582,
"cdna_start": null,
"cds_end": null,
"cds_length": 2337,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913462.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.1450+6646T>C",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583521.1",
"strand": false,
"transcript": "ENST00000913462.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 777,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3410,
"cdna_start": null,
"cds_end": null,
"cds_length": 2334,
"cds_start": null,
"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001367617.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.1507+6646T>C",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354546.1",
"strand": false,
"transcript": "NM_001367617.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
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"feature": "NM_001367618.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.1507+6646T>C",
"hgvs_p": null,
"intron_rank": 13,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354547.1",
"strand": false,
"transcript": "NM_001367618.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3561,
"cdna_start": null,
"cds_end": null,
"cds_length": 2334,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
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"feature": "ENST00000907847.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.1507+6646T>C",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577906.1",
"strand": false,
"transcript": "ENST00000907847.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
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"feature": "ENST00000907854.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.1507+6646T>C",
"hgvs_p": null,
"intron_rank": 13,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577913.1",
"strand": false,
"transcript": "ENST00000907854.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3531,
"cdna_start": null,
"cds_end": null,
"cds_length": 2334,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913461.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.1507+6646T>C",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583520.1",
"strand": false,
"transcript": "ENST00000913461.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": null,
"cds_end": null,
"cds_length": 2316,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351683.4",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.1489+6646T>C",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001338612.2",
"strand": false,
"transcript": "NM_001351683.4",
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},
{
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"cdna_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 21,
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"feature": "NM_001351684.2",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.1489+6646T>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001338613.1",
"strand": false,
"transcript": "NM_001351684.2",
"transcript_support_level": null
},
{
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"cdna_length": 3398,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
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"feature": "ENST00000907851.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.1489+6646T>C",
"hgvs_p": null,
"intron_rank": 13,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000577910.1",
"strand": false,
"transcript": "ENST00000907851.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3378,
"cdna_start": null,
"cds_end": null,
"cds_length": 2292,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001367612.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.1465+6646T>C",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354541.1",
"strand": false,
"transcript": "NM_001367612.1",
"transcript_support_level": null
},
{
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"aa_length": 763,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3376,
"cdna_start": null,
"cds_end": null,
"cds_length": 2292,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001367613.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.1465+6646T>C",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354542.1",
"strand": false,
"transcript": "NM_001367613.1",
"transcript_support_level": null
},
{
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