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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: 1-156346819-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156346819&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TSACC",
"hgnc_id": 30636,
"hgvs_c": "c.269A>G",
"hgvs_p": "p.Asn90Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001304826.2",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CCT3",
"hgnc_id": 1616,
"hgvs_c": "c.104-10931T>C",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "ENST00000446905.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 15,
"alphamissense_prediction": null,
"alphamissense_score": 0.1631,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "1",
"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": 0.09518226981163025,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 125,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 595,
"cdna_start": 419,
"cds_end": null,
"cds_length": 378,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001304817.2",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.215A>G",
"hgvs_p": "p.Asn72Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368254.6",
"protein_coding": true,
"protein_id": "NP_001291746.1",
"strand": true,
"transcript": "NM_001304817.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 125,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 595,
"cdna_start": 419,
"cds_end": null,
"cds_length": 378,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000368254.6",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.215A>G",
"hgvs_p": "p.Asn72Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001304817.2",
"protein_coding": true,
"protein_id": "ENSP00000357237.1",
"strand": true,
"transcript": "ENST00000368254.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 125,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 491,
"cdna_start": 315,
"cds_end": null,
"cds_length": 378,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000368252.5",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.215A>G",
"hgvs_p": "p.Asn72Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357235.1",
"strand": true,
"transcript": "ENST00000368252.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 125,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 512,
"cdna_start": 341,
"cds_end": null,
"cds_length": 378,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000368253.6",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.215A>G",
"hgvs_p": "p.Asn72Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357236.1",
"strand": true,
"transcript": "ENST00000368253.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 125,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 751,
"cdna_start": 575,
"cds_end": null,
"cds_length": 378,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000368255.7",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.215A>G",
"hgvs_p": "p.Asn72Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357238.3",
"strand": true,
"transcript": "ENST00000368255.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 143,
"aa_ref": "N",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 659,
"cdna_start": 483,
"cds_end": null,
"cds_length": 432,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001304826.2",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.269A>G",
"hgvs_p": "p.Asn90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291755.1",
"strand": true,
"transcript": "NM_001304826.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 125,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 494,
"cdna_start": 318,
"cds_end": null,
"cds_length": 378,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001304818.2",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.215A>G",
"hgvs_p": "p.Asn72Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291747.1",
"strand": true,
"transcript": "NM_001304818.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 125,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 753,
"cdna_start": 577,
"cds_end": null,
"cds_length": 378,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001304819.2",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.215A>G",
"hgvs_p": "p.Asn72Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291748.1",
"strand": true,
"transcript": "NM_001304819.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 125,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 438,
"cdna_start": 262,
"cds_end": null,
"cds_length": 378,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001304820.1",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.215A>G",
"hgvs_p": "p.Asn72Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291749.1",
"strand": true,
"transcript": "NM_001304820.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 125,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 854,
"cdna_start": 678,
"cds_end": null,
"cds_length": 378,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001304821.2",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.215A>G",
"hgvs_p": "p.Asn72Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291750.1",
"strand": true,
"transcript": "NM_001304821.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 125,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 751,
"cdna_start": 575,
"cds_end": null,
"cds_length": 378,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_144627.5",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.215A>G",
"hgvs_p": "p.Asn72Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_653228.1",
"strand": true,
"transcript": "NM_144627.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 125,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 438,
"cdna_start": 262,
"cds_end": null,
"cds_length": 378,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000368251.1",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.215A>G",
"hgvs_p": "p.Asn72Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357234.1",
"strand": true,
"transcript": "ENST00000368251.1",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 125,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 442,
"cdna_start": 272,
"cds_end": null,
"cds_length": 378,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000902464.1",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.215A>G",
"hgvs_p": "p.Asn72Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572523.1",
"strand": true,
"transcript": "ENST00000902464.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 125,
"aa_ref": "N",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 498,
"cdna_start": 323,
"cds_end": null,
"cds_length": 378,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000922497.1",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.215A>G",
"hgvs_p": "p.Asn72Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592556.1",
"strand": true,
"transcript": "ENST00000922497.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 82,
"aa_ref": "N",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 379,
"cdna_start": 203,
"cds_end": null,
"cds_length": 249,
"cds_start": 86,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922498.1",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.86A>G",
"hgvs_p": "p.Asn29Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592557.1",
"strand": true,
"transcript": "ENST00000922498.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 100,
"aa_ref": "K",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 483,
"cdna_start": 307,
"cds_end": null,
"cds_length": 303,
"cds_start": 204,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001304822.2",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.204A>G",
"hgvs_p": "p.Lys68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291751.1",
"strand": true,
"transcript": "NM_001304822.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 100,
"aa_ref": "K",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 584,
"cdna_start": 408,
"cds_end": null,
"cds_length": 303,
"cds_start": 204,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001304823.2",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.204A>G",
"hgvs_p": "p.Lys68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291752.1",
"strand": true,
"transcript": "NM_001304823.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 100,
"aa_ref": "K",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 742,
"cdna_start": 566,
"cds_end": null,
"cds_length": 303,
"cds_start": 204,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001304824.2",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.204A>G",
"hgvs_p": "p.Lys68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291753.1",
"strand": true,
"transcript": "NM_001304824.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 100,
"aa_ref": "K",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 843,
"cdna_start": 667,
"cds_end": null,
"cds_length": 303,
"cds_start": 204,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001304825.2",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.204A>G",
"hgvs_p": "p.Lys68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291754.1",
"strand": true,
"transcript": "NM_001304825.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 100,
"aa_ref": "K",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 477,
"cdna_start": 304,
"cds_end": null,
"cds_length": 303,
"cds_start": 204,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000466306.5",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
"hgvs_c": "c.204A>G",
"hgvs_p": "p.Lys68Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477010.1",
"strand": true,
"transcript": "ENST00000466306.5",
"transcript_support_level": 3
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 100,
"aa_ref": "K",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 601,
"cdna_start": 427,
"cds_end": null,
"cds_length": 303,
"cds_start": 204,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000470342.5",
"gene_hgnc_id": 30636,
"gene_symbol": "TSACC",
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}