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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: 20-18433712-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=18433712&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DZANK1",
"hgnc_id": 15858,
"hgvs_c": "c.858T>C",
"hgvs_p": "p.Cys286Cys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_001367614.1",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP4_Moderate",
"BA1"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "RNA5SP476",
"hgnc_id": 43376,
"hgvs_c": "n.-130A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -10,
"transcript": "ENST00000516613.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_score": -11,
"allele_count_reference_population": 1416844,
"alphamissense_prediction": null,
"alphamissense_score": 0.1539,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.15000000596046448,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 777,
"aa_ref": "C",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3420,
"cdna_start": 912,
"cds_end": null,
"cds_length": 2334,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001367614.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.858T>C",
"hgvs_p": "p.Cys286Cys",
"intron_rank": null,
"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": "C",
"aa_end": null,
"aa_length": 777,
"aa_ref": "C",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3420,
"cdna_start": 912,
"cds_end": null,
"cds_length": 2334,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000699568.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.858T>C",
"hgvs_p": "p.Cys286Cys",
"intron_rank": null,
"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": "C",
"aa_end": null,
"aa_length": 763,
"aa_ref": "C",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3138,
"cdna_start": 878,
"cds_end": null,
"cds_length": 2292,
"cds_start": 816,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000699590.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Cys272Cys",
"intron_rank": null,
"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": "C",
"aa_end": null,
"aa_length": 758,
"aa_ref": "C",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": 855,
"cds_end": null,
"cds_length": 2277,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000699525.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.801T>C",
"hgvs_p": "p.Cys267Cys",
"intron_rank": null,
"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": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "C",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3739,
"cdna_start": 1235,
"cds_end": null,
"cds_length": 1680,
"cds_start": 204,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000357236.8",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.204T>C",
"hgvs_p": "p.Cys68Cys",
"intron_rank": null,
"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": 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": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000377630.9",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "n.733T>C",
"hgvs_p": null,
"intron_rank": null,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000460891.5",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "n.733T>C",
"hgvs_p": null,
"intron_rank": null,
"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": "C",
"aa_end": null,
"aa_length": 780,
"aa_ref": "C",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3446,
"cdna_start": 875,
"cds_end": null,
"cds_length": 2343,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000913456.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.801T>C",
"hgvs_p": "p.Cys267Cys",
"intron_rank": null,
"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": "C",
"aa_end": null,
"aa_length": 780,
"aa_ref": "C",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3502,
"cdna_start": 930,
"cds_end": null,
"cds_length": 2343,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000913459.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.801T>C",
"hgvs_p": "p.Cys267Cys",
"intron_rank": null,
"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
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 778,
"aa_ref": "C",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3582,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 2337,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000913462.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.801T>C",
"hgvs_p": "p.Cys267Cys",
"intron_rank": null,
"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
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 777,
"aa_ref": "C",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3410,
"cdna_start": 902,
"cds_end": null,
"cds_length": 2334,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001367617.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.858T>C",
"hgvs_p": "p.Cys286Cys",
"intron_rank": null,
"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
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 777,
"aa_ref": "C",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3554,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 2334,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001367618.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.858T>C",
"hgvs_p": "p.Cys286Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354547.1",
"strand": false,
"transcript": "NM_001367618.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 777,
"aa_ref": "C",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3561,
"cdna_start": 1056,
"cds_end": null,
"cds_length": 2334,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907847.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.858T>C",
"hgvs_p": "p.Cys286Cys",
"intron_rank": null,
"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
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 777,
"aa_ref": "C",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": 1176,
"cds_end": null,
"cds_length": 2334,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907854.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.858T>C",
"hgvs_p": "p.Cys286Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577913.1",
"strand": false,
"transcript": "ENST00000907854.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 777,
"aa_ref": "C",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3531,
"cdna_start": 1023,
"cds_end": null,
"cds_length": 2334,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000913461.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.858T>C",
"hgvs_p": "p.Cys286Cys",
"intron_rank": null,
"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
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 771,
"aa_ref": "C",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 2316,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001351683.4",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.858T>C",
"hgvs_p": "p.Cys286Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338612.2",
"strand": false,
"transcript": "NM_001351683.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 771,
"aa_ref": "C",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3402,
"cdna_start": 912,
"cds_end": null,
"cds_length": 2316,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001351684.2",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.858T>C",
"hgvs_p": "p.Cys286Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338613.1",
"strand": false,
"transcript": "NM_001351684.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 771,
"aa_ref": "C",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3398,
"cdna_start": 910,
"cds_end": null,
"cds_length": 2316,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907851.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.858T>C",
"hgvs_p": "p.Cys286Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577910.1",
"strand": false,
"transcript": "ENST00000907851.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 763,
"aa_ref": "C",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3378,
"cdna_start": 870,
"cds_end": null,
"cds_length": 2292,
"cds_start": 816,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001367612.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Cys272Cys",
"intron_rank": null,
"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
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 763,
"aa_ref": "C",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3376,
"cdna_start": 868,
"cds_end": null,
"cds_length": 2292,
"cds_start": 816,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001367613.1",
"gene_hgnc_id": 15858,
"gene_symbol": "DZANK1",
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Cys272Cys",
"intron_rank": null,
"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
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 763,
"aa_ref": "C",
"aa_start": 272,
"biotype": "protein_coding",
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