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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: 17-770453-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=770453&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GLOD4",
"hgnc_id": 14111,
"hgvs_c": "c.796G>C",
"hgvs_p": "p.Gly266Arg",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001389725.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 96,
"alphamissense_prediction": null,
"alphamissense_score": 0.9715,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.28,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9659899473190308,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 298,
"aa_ref": "G",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1765,
"cdna_start": 623,
"cds_end": null,
"cds_length": 897,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_016080.4",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.598G>C",
"hgvs_p": "p.Gly200Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000301329.11",
"protein_coding": true,
"protein_id": "NP_057164.3",
"strand": false,
"transcript": "NM_016080.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 298,
"aa_ref": "G",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1765,
"cdna_start": 623,
"cds_end": null,
"cds_length": 897,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000301329.11",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.598G>C",
"hgvs_p": "p.Gly200Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016080.4",
"protein_coding": true,
"protein_id": "ENSP00000301329.6",
"strand": false,
"transcript": "ENST00000301329.11",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 667,
"cds_end": null,
"cds_length": 942,
"cds_start": 643,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000301328.9",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.643G>C",
"hgvs_p": "p.Gly215Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000301328.5",
"strand": false,
"transcript": "ENST00000301328.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 364,
"aa_ref": "G",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 821,
"cds_end": null,
"cds_length": 1095,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001389725.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.796G>C",
"hgvs_p": "p.Gly266Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376654.1",
"strand": false,
"transcript": "NM_001389725.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 335,
"aa_ref": "G",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1008,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001389726.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.709G>C",
"hgvs_p": "p.Gly237Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376655.1",
"strand": false,
"transcript": "NM_001389726.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 335,
"aa_ref": "G",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1762,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1008,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891260.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.709G>C",
"hgvs_p": "p.Gly237Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561319.1",
"strand": false,
"transcript": "ENST00000891260.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 326,
"aa_ref": "G",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1134,
"cdna_start": 623,
"cds_end": null,
"cds_length": 981,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001389727.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.598G>C",
"hgvs_p": "p.Gly200Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376656.1",
"strand": false,
"transcript": "NM_001389727.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 313,
"aa_ref": "G",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1810,
"cdna_start": 668,
"cds_end": null,
"cds_length": 942,
"cds_start": 643,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001366247.2",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.643G>C",
"hgvs_p": "p.Gly215Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353176.1",
"strand": false,
"transcript": "NM_001366247.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 296,
"aa_ref": "G",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 678,
"cds_end": null,
"cds_length": 891,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000940416.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Gly198Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610475.1",
"strand": false,
"transcript": "ENST00000940416.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 293,
"aa_ref": "G",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1745,
"cdna_start": 606,
"cds_end": null,
"cds_length": 882,
"cds_start": 583,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000940420.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.583G>C",
"hgvs_p": "p.Gly195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610479.1",
"strand": false,
"transcript": "ENST00000940420.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 293,
"aa_ref": "G",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 626,
"cds_end": null,
"cds_length": 882,
"cds_start": 583,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956992.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.583G>C",
"hgvs_p": "p.Gly195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627051.1",
"strand": false,
"transcript": "ENST00000956992.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 289,
"aa_ref": "G",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 999,
"cds_end": null,
"cds_length": 870,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001366249.2",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.571G>C",
"hgvs_p": "p.Gly191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353178.1",
"strand": false,
"transcript": "NM_001366249.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 289,
"aa_ref": "G",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": 696,
"cds_end": null,
"cds_length": 870,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001366250.2",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.571G>C",
"hgvs_p": "p.Gly191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353179.1",
"strand": false,
"transcript": "NM_001366250.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 289,
"aa_ref": "G",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": 877,
"cds_end": null,
"cds_length": 870,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001389728.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.571G>C",
"hgvs_p": "p.Gly191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376657.1",
"strand": false,
"transcript": "NM_001389728.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 289,
"aa_ref": "G",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1893,
"cdna_start": 751,
"cds_end": null,
"cds_length": 870,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001389729.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.571G>C",
"hgvs_p": "p.Gly191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376658.1",
"strand": false,
"transcript": "NM_001389729.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 289,
"aa_ref": "G",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 898,
"cds_end": null,
"cds_length": 870,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001389730.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.571G>C",
"hgvs_p": "p.Gly191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376659.1",
"strand": false,
"transcript": "NM_001389730.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 285,
"aa_ref": "G",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1726,
"cdna_start": 623,
"cds_end": null,
"cds_length": 858,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001389731.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.598G>C",
"hgvs_p": "p.Gly200Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376660.1",
"strand": false,
"transcript": "NM_001389731.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 280,
"aa_ref": "G",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1711,
"cdna_start": 623,
"cds_end": null,
"cds_length": 843,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001389732.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.598G>C",
"hgvs_p": "p.Gly200Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376661.1",
"strand": false,
"transcript": "NM_001389732.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 280,
"aa_ref": "G",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1770,
"cdna_start": 618,
"cds_end": null,
"cds_length": 843,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000940417.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.544G>C",
"hgvs_p": "p.Gly182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610476.1",
"strand": false,
"transcript": "ENST00000940417.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 279,
"aa_ref": "G",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 623,
"cds_end": null,
"cds_length": 840,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001389733.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.598G>C",
"hgvs_p": "p.Gly200Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376662.1",
"strand": false,
"transcript": "NM_001389733.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 260,
"aa_ref": "G",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1651,
"cdna_start": 623,
"cds_end": null,
"cds_length": 783,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001389735.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.598G>C",
"hgvs_p": "p.Gly200Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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