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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: 12-133105548-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=133105548&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF140",
"hgnc_id": 12925,
"hgvs_c": "c.271A>G",
"hgvs_p": "p.Lys91Glu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_003440.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "ZNF891",
"hgnc_id": 38709,
"hgvs_c": "c.*14736T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001277291.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 175,
"alphamissense_prediction": null,
"alphamissense_score": 0.0702,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03759649395942688,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 457,
"aa_ref": "K",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": 469,
"cds_end": null,
"cds_length": 1374,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_003440.4",
"gene_hgnc_id": 12925,
"gene_symbol": "ZNF140",
"hgvs_c": "c.271A>G",
"hgvs_p": "p.Lys91Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355557.7",
"protein_coding": true,
"protein_id": "NP_003431.2",
"strand": true,
"transcript": "NM_003440.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 457,
"aa_ref": "K",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": 469,
"cds_end": null,
"cds_length": 1374,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000355557.7",
"gene_hgnc_id": 12925,
"gene_symbol": "ZNF140",
"hgvs_c": "c.271A>G",
"hgvs_p": "p.Lys91Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003440.4",
"protein_coding": true,
"protein_id": "ENSP00000347755.2",
"strand": true,
"transcript": "ENST00000355557.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 544,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17294,
"cdna_start": null,
"cds_end": null,
"cds_length": 1635,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001277291.2",
"gene_hgnc_id": 38709,
"gene_symbol": "ZNF891",
"hgvs_c": "c.*14736T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000537226.3",
"protein_coding": true,
"protein_id": "NP_001264220.1",
"strand": false,
"transcript": "NM_001277291.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 544,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 17294,
"cdna_start": null,
"cds_end": null,
"cds_length": 1635,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000537226.3",
"gene_hgnc_id": 38709,
"gene_symbol": "ZNF891",
"hgvs_c": "c.*14736T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001277291.2",
"protein_coding": true,
"protein_id": "ENSP00000437590.1",
"strand": false,
"transcript": "ENST00000537226.3",
"transcript_support_level": 2
},
{
"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": 2328,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000536790.5",
"gene_hgnc_id": 12925,
"gene_symbol": "ZNF140",
"hgvs_c": "n.*98A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000441170.1",
"strand": true,
"transcript": "ENST00000536790.5",
"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": 2328,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000536790.5",
"gene_hgnc_id": 12925,
"gene_symbol": "ZNF140",
"hgvs_c": "n.*98A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000441170.1",
"strand": true,
"transcript": "ENST00000536790.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 457,
"aa_ref": "K",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3044,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1374,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000880216.1",
"gene_hgnc_id": 12925,
"gene_symbol": "ZNF140",
"hgvs_c": "c.271A>G",
"hgvs_p": "p.Lys91Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550275.1",
"strand": true,
"transcript": "ENST00000880216.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 457,
"aa_ref": "K",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2445,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1374,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000880217.1",
"gene_hgnc_id": 12925,
"gene_symbol": "ZNF140",
"hgvs_c": "c.271A>G",
"hgvs_p": "p.Lys91Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550276.1",
"strand": true,
"transcript": "ENST00000880217.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 457,
"aa_ref": "K",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 1374,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880218.1",
"gene_hgnc_id": 12925,
"gene_symbol": "ZNF140",
"hgvs_c": "c.271A>G",
"hgvs_p": "p.Lys91Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550277.1",
"strand": true,
"transcript": "ENST00000880218.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 160,
"aa_ref": "K",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1945,
"cdna_start": 1780,
"cds_end": null,
"cds_length": 484,
"cds_start": 319,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000429434.3",
"gene_hgnc_id": 12925,
"gene_symbol": "ZNF140",
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Lys107Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415499.2",
"strand": true,
"transcript": "ENST00000429434.3",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 115,
"aa_ref": "K",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 726,
"cdna_start": 648,
"cds_end": null,
"cds_length": 349,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000356456.9",
"gene_hgnc_id": 12925,
"gene_symbol": "ZNF140",
"hgvs_c": "c.271A>G",
"hgvs_p": "p.Lys91Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444905.1",
"strand": true,
"transcript": "ENST00000356456.9",
"transcript_support_level": 3
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 86,
"aa_ref": "K",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 553,
"cdna_start": 460,
"cds_end": null,
"cds_length": 262,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000412146.6",
"gene_hgnc_id": 12925,
"gene_symbol": "ZNF140",
"hgvs_c": "c.169A>G",
"hgvs_p": "p.Lys57Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389566.2",
"strand": true,
"transcript": "ENST00000412146.6",
"transcript_support_level": 3
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 458,
"aa_ref": "K",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": 472,
"cds_end": null,
"cds_length": 1377,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011534833.3",
"gene_hgnc_id": 12925,
"gene_symbol": "ZNF140",
"hgvs_c": "c.274A>G",
"hgvs_p": "p.Lys92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533135.1",
"strand": true,
"transcript": "XM_011534833.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 458,
"aa_ref": "K",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2329,
"cdna_start": 449,
"cds_end": null,
"cds_length": 1377,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011534834.4",
"gene_hgnc_id": 12925,
"gene_symbol": "ZNF140",
"hgvs_c": "c.274A>G",
"hgvs_p": "p.Lys92Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533136.1",
"strand": true,
"transcript": "XM_011534834.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 457,
"aa_ref": "K",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2326,
"cdna_start": 446,
"cds_end": null,
"cds_length": 1374,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011534835.4",
"gene_hgnc_id": 12925,
"gene_symbol": "ZNF140",
"hgvs_c": "c.271A>G",
"hgvs_p": "p.Lys91Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533137.1",
"strand": true,
"transcript": "XM_011534835.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 424,
"aa_ref": "K",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 477,
"cds_end": null,
"cds_length": 1275,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011534837.3",
"gene_hgnc_id": 12925,
"gene_symbol": "ZNF140",
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Lys58Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533139.1",
"strand": true,
"transcript": "XM_011534837.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 387,
"aa_ref": "K",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 203,
"cds_end": null,
"cds_length": 1164,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047429512.1",
"gene_hgnc_id": 12925,
"gene_symbol": "ZNF140",
"hgvs_c": "c.61A>G",
"hgvs_p": "p.Lys21Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285468.1",
"strand": true,
"transcript": "XM_047429512.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 354,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": null,
"cds_end": null,
"cds_length": 1065,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001300776.2",
"gene_hgnc_id": 12925,
"gene_symbol": "ZNF140",
"hgvs_c": "c.-39A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287705.1",
"strand": true,
"transcript": "NM_001300776.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 354,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2416,
"cdna_start": null,
"cds_end": null,
"cds_length": 1065,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001300778.2",
"gene_hgnc_id": 12925,
"gene_symbol": "ZNF140",
"hgvs_c": "c.-39A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287707.1",
"strand": true,
"transcript": "NM_001300778.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 354,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2340,
"cdna_start": null,
"cds_end": null,
"cds_length": 1065,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000544426.5",
"gene_hgnc_id": 12925,
"gene_symbol": "ZNF140",
"hgvs_c": "c.-39A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445411.1",
"strand": true,
"transcript": "ENST00000544426.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 114,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 596,
"cdna_start": null,
"cds_end": null,
"cds_length": 345,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
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]
}