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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: 3-100777836-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=100777836&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ABI3BP",
"hgnc_id": 17265,
"hgvs_c": "c.4333+448G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001375547.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1786,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6737,
"cdna_start": null,
"cds_end": null,
"cds_length": 5361,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 68,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375547.2",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4333+448G>A",
"hgvs_p": null,
"intron_rank": 59,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000471714.6",
"protein_coding": true,
"protein_id": "NP_001362476.1",
"strand": false,
"transcript": "NM_001375547.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1786,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6737,
"cdna_start": null,
"cds_end": null,
"cds_length": 5361,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 68,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000471714.6",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4333+448G>A",
"hgvs_p": null,
"intron_rank": 59,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001375547.2",
"protein_coding": true,
"protein_id": "ENSP00000420524.2",
"strand": false,
"transcript": "ENST00000471714.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1068,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4498,
"cdna_start": null,
"cds_end": null,
"cds_length": 3207,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000284322.10",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.2179+448G>A",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000284322.6",
"strand": false,
"transcript": "ENST00000284322.10",
"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": 2984,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000470336.5",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "n.796+448G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000470336.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1793,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6737,
"cdna_start": null,
"cds_end": null,
"cds_length": 5382,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 68,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000710654.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4354+448G>A",
"hgvs_p": null,
"intron_rank": 59,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518403.1",
"strand": false,
"transcript": "ENST00000710654.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1772,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6516,
"cdna_start": null,
"cds_end": null,
"cds_length": 5319,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 67,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375550.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4291+448G>A",
"hgvs_p": null,
"intron_rank": 58,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362479.1",
"strand": false,
"transcript": "NM_001375550.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1770,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6689,
"cdna_start": null,
"cds_end": null,
"cds_length": 5313,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 67,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375549.2",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4285+448G>A",
"hgvs_p": null,
"intron_rank": 58,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362478.1",
"strand": false,
"transcript": "NM_001375549.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1715,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6345,
"cdna_start": null,
"cds_end": null,
"cds_length": 5148,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 65,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349329.2",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4120+448G>A",
"hgvs_p": null,
"intron_rank": 56,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336258.2",
"strand": false,
"transcript": "NM_001349329.2",
"transcript_support_level": null
},
{
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"aa_length": 1677,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6268,
"cdna_start": null,
"cds_end": null,
"cds_length": 5034,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 63,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882230.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4006+448G>A",
"hgvs_p": null,
"intron_rank": 54,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552289.1",
"strand": false,
"transcript": "ENST00000882230.1",
"transcript_support_level": null
},
{
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"aa_length": 1651,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6383,
"cdna_start": null,
"cds_end": null,
"cds_length": 4956,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 62,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882203.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.3928+448G>A",
"hgvs_p": null,
"intron_rank": 53,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552262.1",
"strand": false,
"transcript": "ENST00000882203.1",
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},
{
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"consequences": [
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],
"exon_count": 62,
"exon_rank": null,
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"feature": "NM_001349330.2",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.3910+448G>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336259.2",
"strand": false,
"transcript": "NM_001349330.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000882239.1",
"gene_hgnc_id": 17265,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000552298.1",
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"transcript": "ENST00000882239.1",
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},
{
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],
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"feature": "NM_001377332.1",
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"protein_coding": true,
"protein_id": "NP_001364261.1",
"strand": false,
"transcript": "NM_001377332.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 49,
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"feature": "ENST00000882206.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.3115+448G>A",
"hgvs_p": null,
"intron_rank": 40,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000552265.1",
"strand": false,
"transcript": "ENST00000882206.1",
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},
{
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"consequences": [
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],
"exon_count": 48,
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"feature": "NM_001365642.2",
"gene_hgnc_id": 17265,
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"protein_coding": true,
"protein_id": "NP_001352571.2",
"strand": false,
"transcript": "NM_001365642.2",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 45,
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"feature": "ENST00000882237.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.2794+448G>A",
"hgvs_p": null,
"intron_rank": 36,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000552296.1",
"strand": false,
"transcript": "ENST00000882237.1",
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},
{
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"canonical": false,
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"consequences": [
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],
"exon_count": 43,
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"feature": "ENST00000882199.1",
"gene_hgnc_id": 17265,
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"hgvs_c": "c.2713+448G>A",
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"protein_id": "ENSP00000552258.1",
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},
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],
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"feature": "ENST00000950966.1",
"gene_hgnc_id": 17265,
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},
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],
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"feature": "ENST00000950971.1",
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"strand": false,
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},
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"consequences": [
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],
"exon_count": 43,
"exon_rank": null,
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"feature": "ENST00000882219.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.2659+448G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000552278.1",
"strand": false,
"transcript": "ENST00000882219.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 3669,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349331.2",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.2641+448G>A",
"hgvs_p": null,
"intron_rank": 34,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336260.2",
"strand": false,
"transcript": "NM_001349331.2",
"transcript_support_level": null
},
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