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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: 12-56004978-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56004978&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SUOX",
"hgnc_id": 11460,
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"inheritance_mode": "AR",
"pathogenic_score": 14,
"score": 14,
"transcript": "NM_000456.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PP3_Strong,PP5_Moderate",
"acmg_score": 14,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9941,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.46,
"chr": "12",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Sulfite oxidase deficiency,Sulfocysteinuria",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9927708506584167,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": 1772,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001032386.2",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000266971.8",
"protein_coding": true,
"protein_id": "NP_001027558.1",
"strand": true,
"transcript": "NM_001032386.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": 1772,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000266971.8",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001032386.2",
"protein_coding": true,
"protein_id": "ENSP00000266971.3",
"strand": true,
"transcript": "ENST00000266971.8",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000356124.8",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348440.4",
"strand": true,
"transcript": "ENST00000356124.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2860,
"cdna_start": 2313,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000394109.7",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377668.3",
"strand": true,
"transcript": "ENST00000394109.7",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2445,
"cdna_start": 1898,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_000456.3",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000447.2",
"strand": true,
"transcript": "NM_000456.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001032387.2",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001027559.1",
"strand": true,
"transcript": "NM_001032387.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2394,
"cdna_start": 1886,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000394115.6",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377674.2",
"strand": true,
"transcript": "ENST00000394115.6",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": 1805,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000548274.5",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450245.1",
"strand": true,
"transcript": "ENST00000548274.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 2256,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886412.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556471.1",
"strand": true,
"transcript": "ENST00000886412.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2974,
"cdna_start": 2427,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886413.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556472.1",
"strand": true,
"transcript": "ENST00000886413.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 1978,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886414.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556473.1",
"strand": true,
"transcript": "ENST00000886414.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886415.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556474.1",
"strand": true,
"transcript": "ENST00000886415.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": 2093,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886416.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556475.1",
"strand": true,
"transcript": "ENST00000886416.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3699,
"cdna_start": 3152,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886417.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556476.1",
"strand": true,
"transcript": "ENST00000886417.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2383,
"cdna_start": 1836,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886418.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556477.1",
"strand": true,
"transcript": "ENST00000886418.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 2240,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886419.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556478.1",
"strand": true,
"transcript": "ENST00000886419.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2703,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886420.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556479.1",
"strand": true,
"transcript": "ENST00000886420.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 545,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2481,
"cdna_start": 1937,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886421.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556480.1",
"strand": true,
"transcript": "ENST00000886421.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 2126,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886422.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556481.1",
"strand": true,
"transcript": "ENST00000886422.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2307,
"cdna_start": 1763,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000886423.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556482.1",
"strand": true,
"transcript": "ENST00000886423.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 545,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": 1894,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886425.1",
"gene_hgnc_id": 11460,
"gene_symbol": "SUOX",
"hgvs_c": "c.1589G>A",
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}