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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: 6-35290329-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35290329&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF76",
"hgnc_id": 13149,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_003427.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 32,
"alphamissense_prediction": null,
"alphamissense_score": 0.359,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.665294885635376,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 570,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2653,
"cdna_start": 699,
"cds_end": null,
"cds_length": 1713,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_003427.5",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373953.8",
"protein_coding": true,
"protein_id": "NP_003418.2",
"strand": true,
"transcript": "NM_003427.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 570,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2653,
"cdna_start": 699,
"cds_end": null,
"cds_length": 1713,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000373953.8",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003427.5",
"protein_coding": true,
"protein_id": "ENSP00000363064.3",
"strand": true,
"transcript": "ENST00000373953.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 515,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": 660,
"cds_end": null,
"cds_length": 1548,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000339411.5",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344097.5",
"strand": true,
"transcript": "ENST00000339411.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 582,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2685,
"cdna_start": 731,
"cds_end": null,
"cds_length": 1749,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000905457.1",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575516.1",
"strand": true,
"transcript": "ENST00000905457.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 576,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2750,
"cdna_start": 796,
"cds_end": null,
"cds_length": 1731,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000905439.1",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575498.1",
"strand": true,
"transcript": "ENST00000905439.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 573,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2660,
"cdna_start": 699,
"cds_end": null,
"cds_length": 1722,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000944836.1",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614895.1",
"strand": true,
"transcript": "ENST00000944836.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 571,
"aa_ref": "R",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 706,
"cds_end": null,
"cds_length": 1716,
"cds_start": 499,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000905449.1",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.499C>T",
"hgvs_p": "p.Arg167Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575508.1",
"strand": true,
"transcript": "ENST00000905449.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 570,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2937,
"cdna_start": 983,
"cds_end": null,
"cds_length": 1713,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000905434.1",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575493.1",
"strand": true,
"transcript": "ENST00000905434.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 570,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2620,
"cdna_start": 666,
"cds_end": null,
"cds_length": 1713,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000905451.1",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575510.1",
"strand": true,
"transcript": "ENST00000905451.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 569,
"aa_ref": "R",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2755,
"cdna_start": 803,
"cds_end": null,
"cds_length": 1710,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000905436.1",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575495.1",
"strand": true,
"transcript": "ENST00000905436.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 569,
"aa_ref": "R",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2744,
"cdna_start": 791,
"cds_end": null,
"cds_length": 1710,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000905438.1",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575497.1",
"strand": true,
"transcript": "ENST00000905438.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 569,
"aa_ref": "R",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2671,
"cdna_start": 717,
"cds_end": null,
"cds_length": 1710,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000905444.1",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575503.1",
"strand": true,
"transcript": "ENST00000905444.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 569,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 717,
"cds_end": null,
"cds_length": 1710,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000905446.1",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575505.1",
"strand": true,
"transcript": "ENST00000905446.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 569,
"aa_ref": "R",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2648,
"cdna_start": 696,
"cds_end": null,
"cds_length": 1710,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000905455.1",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575514.1",
"strand": true,
"transcript": "ENST00000905455.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 569,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2756,
"cdna_start": 802,
"cds_end": null,
"cds_length": 1710,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000934067.1",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604126.1",
"strand": true,
"transcript": "ENST00000934067.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 560,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2811,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1683,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000905442.1",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575501.1",
"strand": true,
"transcript": "ENST00000905442.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 544,
"aa_ref": "R",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2573,
"cdna_start": 621,
"cds_end": null,
"cds_length": 1635,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000905453.1",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575512.1",
"strand": true,
"transcript": "ENST00000905453.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 542,
"aa_ref": "R",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1629,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000905445.1",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Arg138Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575504.1",
"strand": true,
"transcript": "ENST00000905445.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 527,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 755,
"cds_end": null,
"cds_length": 1584,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000944835.1",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614894.1",
"strand": true,
"transcript": "ENST00000944835.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 521,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": 796,
"cds_end": null,
"cds_length": 1566,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000905441.1",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575500.1",
"strand": true,
"transcript": "ENST00000905441.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 521,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2501,
"cdna_start": 713,
"cds_end": null,
"cds_length": 1566,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000905458.1",
"gene_hgnc_id": 13149,
"gene_symbol": "ZNF76",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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