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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: 14-20456995-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=20456995&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "APEX1",
"hgnc_id": 587,
"hgvs_c": "c.444T>G",
"hgvs_p": "p.Asp148Glu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001641.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 729633,
"alphamissense_prediction": null,
"alphamissense_score": 0.0504,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "14",
"clinvar_classification": "Benign",
"clinvar_disease": "APEX1-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00034034252166748047,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1453,
"cdna_start": 681,
"cds_end": null,
"cds_length": 957,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001641.4",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.444T>G",
"hgvs_p": "p.Asp148Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000216714.8",
"protein_coding": true,
"protein_id": "NP_001632.2",
"strand": true,
"transcript": "NM_001641.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1453,
"cdna_start": 681,
"cds_end": null,
"cds_length": 957,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000216714.8",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.444T>G",
"hgvs_p": "p.Asp148Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001641.4",
"protein_coding": true,
"protein_id": "ENSP00000216714.3",
"strand": true,
"transcript": "ENST00000216714.8",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1387,
"cdna_start": 615,
"cds_end": null,
"cds_length": 957,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000398030.8",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.444T>G",
"hgvs_p": "p.Asp148Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381111.4",
"strand": true,
"transcript": "ENST00000398030.8",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1437,
"cdna_start": 660,
"cds_end": null,
"cds_length": 957,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000555414.5",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.444T>G",
"hgvs_p": "p.Asp148Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451979.1",
"strand": true,
"transcript": "ENST00000555414.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1603,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000553555.5",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "n.864T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000553555.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 325,
"aa_ref": "D",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1474,
"cdna_start": 702,
"cds_end": null,
"cds_length": 978,
"cds_start": 465,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936691.1",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.465T>G",
"hgvs_p": "p.Asp155Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606750.1",
"strand": true,
"transcript": "ENST00000936691.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1448,
"cdna_start": 676,
"cds_end": null,
"cds_length": 957,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001244249.2",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.444T>G",
"hgvs_p": "p.Asp148Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001231178.1",
"strand": true,
"transcript": "NM_001244249.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1387,
"cdna_start": 615,
"cds_end": null,
"cds_length": 957,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_080648.3",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.444T>G",
"hgvs_p": "p.Asp148Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_542379.1",
"strand": true,
"transcript": "NM_080648.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1397,
"cdna_start": 625,
"cds_end": null,
"cds_length": 957,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_080649.3",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.444T>G",
"hgvs_p": "p.Asp148Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_542380.1",
"strand": true,
"transcript": "NM_080649.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1412,
"cdna_start": 638,
"cds_end": null,
"cds_length": 957,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000899615.1",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.444T>G",
"hgvs_p": "p.Asp148Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569674.1",
"strand": true,
"transcript": "ENST00000899615.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1387,
"cdna_start": 613,
"cds_end": null,
"cds_length": 957,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000899616.1",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.444T>G",
"hgvs_p": "p.Asp148Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569675.1",
"strand": true,
"transcript": "ENST00000899616.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1364,
"cdna_start": 592,
"cds_end": null,
"cds_length": 957,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000899617.1",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.444T>G",
"hgvs_p": "p.Asp148Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569676.1",
"strand": true,
"transcript": "ENST00000899617.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1486,
"cdna_start": 714,
"cds_end": null,
"cds_length": 957,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936690.1",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.444T>G",
"hgvs_p": "p.Asp148Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606749.1",
"strand": true,
"transcript": "ENST00000936690.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1341,
"cdna_start": 569,
"cds_end": null,
"cds_length": 957,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936693.1",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.444T>G",
"hgvs_p": "p.Asp148Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606752.1",
"strand": true,
"transcript": "ENST00000936693.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1397,
"cdna_start": 625,
"cds_end": null,
"cds_length": 957,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936695.1",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.444T>G",
"hgvs_p": "p.Asp148Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606754.1",
"strand": true,
"transcript": "ENST00000936695.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1352,
"cdna_start": 575,
"cds_end": null,
"cds_length": 957,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000956430.1",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.444T>G",
"hgvs_p": "p.Asp148Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626489.1",
"strand": true,
"transcript": "ENST00000956430.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 316,
"aa_ref": "D",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1478,
"cdna_start": 694,
"cds_end": null,
"cds_length": 951,
"cds_start": 438,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936687.1",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.438T>G",
"hgvs_p": "p.Asp146Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606746.1",
"strand": true,
"transcript": "ENST00000936687.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 316,
"aa_ref": "D",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": 654,
"cds_end": null,
"cds_length": 951,
"cds_start": 438,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936688.1",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.438T>G",
"hgvs_p": "p.Asp146Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606747.1",
"strand": true,
"transcript": "ENST00000936688.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 316,
"aa_ref": "D",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1640,
"cdna_start": 868,
"cds_end": null,
"cds_length": 951,
"cds_start": 438,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936689.1",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.438T>G",
"hgvs_p": "p.Asp146Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606748.1",
"strand": true,
"transcript": "ENST00000936689.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 316,
"aa_ref": "D",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1451,
"cdna_start": 679,
"cds_end": null,
"cds_length": 951,
"cds_start": 438,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936692.1",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.438T>G",
"hgvs_p": "p.Asp146Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606751.1",
"strand": true,
"transcript": "ENST00000936692.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 262,
"aa_ref": "D",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 899,
"cdna_start": 552,
"cds_end": null,
"cds_length": 791,
"cds_start": 444,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000553681.5",
"gene_hgnc_id": 587,
"gene_symbol": "APEX1",
"hgvs_c": "c.444T>G",
"hgvs_p": "p.Asp148Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451327.1",
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