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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: 2-213019793-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=213019793&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "IKZF2",
"hgnc_id": 13177,
"hgvs_c": "c.712+2200G>A",
"hgvs_p": null,
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_016260.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000273118",
"hgnc_id": null,
"hgvs_c": "n.81+1672G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000415387.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 41324,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.89,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8899999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 526,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9562,
"cdna_start": null,
"cds_end": null,
"cds_length": 1581,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387220.1",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "c.712+2200G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000434687.6",
"protein_coding": true,
"protein_id": "NP_001374149.1",
"strand": false,
"transcript": "NM_001387220.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 526,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9562,
"cdna_start": null,
"cds_end": null,
"cds_length": 1581,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000434687.6",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "c.712+2200G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001387220.1",
"protein_coding": true,
"protein_id": "ENSP00000412869.1",
"strand": false,
"transcript": "ENST00000434687.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 532,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3747,
"cdna_start": null,
"cds_end": null,
"cds_length": 1599,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000342002.6",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "c.730+2200G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342876.2",
"strand": false,
"transcript": "ENST00000342002.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 500,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2001,
"cdna_start": null,
"cds_end": null,
"cds_length": 1503,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374319.8",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "c.634+2200G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363439.4",
"strand": false,
"transcript": "ENST00000374319.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1401,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374326.7",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "n.*370+2200G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000363446.3",
"strand": false,
"transcript": "ENST00000374326.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1737,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000412444.5",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "n.*706+2200G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000413680.1",
"strand": false,
"transcript": "ENST00000412444.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000431520.5",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "n.*69+1851G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000396253.1",
"strand": false,
"transcript": "ENST00000431520.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1763,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439848.5",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "n.*444+2200G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000389548.1",
"strand": false,
"transcript": "ENST00000439848.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1594,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000453575.5",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "n.*559+2200G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000411444.1",
"strand": false,
"transcript": "ENST00000453575.5",
"transcript_support_level": 1
},
{
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"aa_end": null,
"aa_length": 527,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5796,
"cdna_start": null,
"cds_end": null,
"cds_length": 1584,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852783.1",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "c.715+2200G>A",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522842.1",
"strand": false,
"transcript": "ENST00000852783.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9589,
"cdna_start": null,
"cds_end": null,
"cds_length": 1581,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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"feature": "NM_001371274.1",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "c.712+2200G>A",
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"intron_rank": 6,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358203.1",
"strand": false,
"transcript": "NM_001371274.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 8,
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"feature": "NM_016260.3",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "c.712+2200G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_057344.2",
"strand": false,
"transcript": "NM_016260.3",
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},
{
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000852782.1",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "c.712+2200G>A",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522841.1",
"strand": false,
"transcript": "ENST00000852782.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000852786.1",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "c.712+2200G>A",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000522845.1",
"strand": false,
"transcript": "ENST00000852786.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000852788.1",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "c.712+2200G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522847.1",
"strand": false,
"transcript": "ENST00000852788.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000852791.1",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "c.712+2200G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522850.1",
"strand": false,
"transcript": "ENST00000852791.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000852792.1",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "c.712+2200G>A",
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"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000522851.1",
"strand": false,
"transcript": "ENST00000852792.1",
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},
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"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "NM_001079526.2",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "c.634+2200G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001072994.1",
"strand": false,
"transcript": "NM_001079526.2",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 8,
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"feature": "NM_001371275.1",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "c.634+2200G>A",
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"intron_rank": 6,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358204.1",
"strand": false,
"transcript": "NM_001371275.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9380,
"cdna_start": null,
"cds_end": null,
"cds_length": 1503,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001371276.1",
"gene_hgnc_id": 13177,
"gene_symbol": "IKZF2",
"hgvs_c": "c.634+2200G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358205.1",
"strand": false,
"transcript": "NM_001371276.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5794,
"cdna_start": null,
"cds_end": null,
"cds_length": 1503,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852784.1",
"gene_hgnc_id": 13177,
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