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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: 20-45419351-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45419351&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PIGT",
"hgnc_id": 14938,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_015937.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_score": 5,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.9982,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.33,
"chr": "20",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Multiple congenital anomalies-hypotonia-seizures syndrome 3",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8953642845153809,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 578,
"aa_ref": "E",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 566,
"cds_end": null,
"cds_length": 1737,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_015937.6",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000279036.12",
"protein_coding": true,
"protein_id": "NP_057021.2",
"strand": true,
"transcript": "NM_015937.6",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 578,
"aa_ref": "E",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 566,
"cds_end": null,
"cds_length": 1737,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000279036.12",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015937.6",
"protein_coding": true,
"protein_id": "ENSP00000279036.6",
"strand": true,
"transcript": "ENST00000279036.12",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 511,
"aa_ref": "E",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": 570,
"cds_end": null,
"cds_length": 1536,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000372689.9",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361774.4",
"strand": true,
"transcript": "ENST00000372689.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 315,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 961,
"cdna_start": 451,
"cds_end": null,
"cds_length": 949,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000639235.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Glu147Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492498.1",
"strand": true,
"transcript": "ENST00000639235.1",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 313,
"aa_ref": "E",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 957,
"cdna_start": 535,
"cds_end": null,
"cds_length": 942,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000638489.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491566.1",
"strand": true,
"transcript": "ENST00000638489.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 392,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1193,
"cdna_start": null,
"cds_end": null,
"cds_length": 1180,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639382.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.454-153G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491534.1",
"strand": true,
"transcript": "ENST00000639382.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 317,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 970,
"cdna_start": null,
"cds_end": null,
"cds_length": 955,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638353.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.316-153G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491538.1",
"strand": true,
"transcript": "ENST00000638353.1",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 605,
"aa_ref": "E",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 550,
"cds_end": null,
"cds_length": 1818,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000639292.2",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491678.2",
"strand": true,
"transcript": "ENST00000639292.2",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 580,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2098,
"cdna_start": 556,
"cds_end": null,
"cds_length": 1743,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000640324.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Glu186Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491074.1",
"strand": true,
"transcript": "ENST00000640324.1",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 572,
"aa_ref": "E",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 577,
"cds_end": null,
"cds_length": 1719,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000956767.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626826.1",
"strand": true,
"transcript": "ENST00000956767.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 569,
"aa_ref": "E",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2155,
"cdna_start": 550,
"cds_end": null,
"cds_length": 1710,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000854442.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Glu175Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524501.1",
"strand": true,
"transcript": "ENST00000854442.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 562,
"aa_ref": "E",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": 566,
"cds_end": null,
"cds_length": 1689,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000956771.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626830.1",
"strand": true,
"transcript": "ENST00000956771.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 550,
"aa_ref": "E",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 566,
"cds_end": null,
"cds_length": 1653,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000638691.2",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492094.2",
"strand": true,
"transcript": "ENST00000638691.2",
"transcript_support_level": 3
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 550,
"aa_ref": "E",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 481,
"cds_end": null,
"cds_length": 1653,
"cds_start": 466,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000956773.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Glu156Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626832.1",
"strand": true,
"transcript": "ENST00000956773.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 522,
"aa_ref": "E",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2000,
"cdna_start": 398,
"cds_end": null,
"cds_length": 1569,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001184728.3",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Glu128Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171657.1",
"strand": true,
"transcript": "NM_001184728.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 522,
"aa_ref": "E",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2037,
"cdna_start": 432,
"cds_end": null,
"cds_length": 1569,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000543458.7",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Glu128Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441577.1",
"strand": true,
"transcript": "ENST00000543458.7",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 516,
"aa_ref": "E",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1979,
"cdna_start": 398,
"cds_end": null,
"cds_length": 1551,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000956774.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Glu128Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626833.1",
"strand": true,
"transcript": "ENST00000956774.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 511,
"aa_ref": "E",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1967,
"cdna_start": 566,
"cds_end": null,
"cds_length": 1536,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001184729.3",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171658.1",
"strand": true,
"transcript": "NM_001184729.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 505,
"aa_ref": "E",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 566,
"cds_end": null,
"cds_length": 1518,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000638594.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491697.1",
"strand": true,
"transcript": "ENST00000638594.1",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 495,
"aa_ref": "E",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2021,
"cdna_start": 566,
"cds_end": null,
"cds_length": 1488,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000639499.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491170.1",
"strand": true,
"transcript": "ENST00000639499.1",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 483,
"aa_ref": "E",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1897,
"cdna_start": 578,
"cds_end": null,
"cds_length": 1452,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000854443.1",
"gene_hgnc_id": 14938,
"gene_symbol": "PIGT",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"intron_rank": null,
"intron_rank_end": null,
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