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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: 1-185267380-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=185267380&ref=G&alt=A&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": "SWT1",
"hgnc_id": 16785,
"hgvs_c": "c.2442-3943G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_017673.7",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 78779,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.96,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9599999785423279,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 900,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3838,
"cdna_start": null,
"cds_end": null,
"cds_length": 2703,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017673.7",
"gene_hgnc_id": 16785,
"gene_symbol": "SWT1",
"hgvs_c": "c.2442-3943G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367500.9",
"protein_coding": true,
"protein_id": "NP_060143.4",
"strand": true,
"transcript": "NM_017673.7",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 900,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3838,
"cdna_start": null,
"cds_end": null,
"cds_length": 2703,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367500.9",
"gene_hgnc_id": 16785,
"gene_symbol": "SWT1",
"hgvs_c": "c.2442-3943G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017673.7",
"protein_coding": true,
"protein_id": "ENSP00000356470.4",
"strand": true,
"transcript": "ENST00000367500.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 907,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3781,
"cdna_start": null,
"cds_end": null,
"cds_length": 2724,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860004.1",
"gene_hgnc_id": 16785,
"gene_symbol": "SWT1",
"hgvs_c": "c.2463-3943G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530063.1",
"strand": true,
"transcript": "ENST00000860004.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 907,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3772,
"cdna_start": null,
"cds_end": null,
"cds_length": 2724,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860007.1",
"gene_hgnc_id": 16785,
"gene_symbol": "SWT1",
"hgvs_c": "c.2463-3943G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530066.1",
"strand": true,
"transcript": "ENST00000860007.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 907,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3716,
"cdna_start": null,
"cds_end": null,
"cds_length": 2724,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932220.1",
"gene_hgnc_id": 16785,
"gene_symbol": "SWT1",
"hgvs_c": "c.2463-3943G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602279.1",
"strand": true,
"transcript": "ENST00000932220.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 907,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3670,
"cdna_start": null,
"cds_end": null,
"cds_length": 2724,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952356.1",
"gene_hgnc_id": 16785,
"gene_symbol": "SWT1",
"hgvs_c": "c.2463-3943G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622415.1",
"strand": true,
"transcript": "ENST00000952356.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 907,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3977,
"cdna_start": null,
"cds_end": null,
"cds_length": 2724,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952358.1",
"gene_hgnc_id": 16785,
"gene_symbol": "SWT1",
"hgvs_c": "c.2463-3943G>A",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622417.1",
"strand": true,
"transcript": "ENST00000952358.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 900,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3795,
"cdna_start": null,
"cds_end": null,
"cds_length": 2703,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001105518.2",
"gene_hgnc_id": 16785,
"gene_symbol": "SWT1",
"hgvs_c": "c.2442-3943G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001098988.1",
"strand": true,
"transcript": "NM_001105518.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 900,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3001,
"cdna_start": null,
"cds_end": null,
"cds_length": 2703,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367501.7",
"gene_hgnc_id": 16785,
"gene_symbol": "SWT1",
"hgvs_c": "c.2442-3943G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356471.3",
"strand": true,
"transcript": "ENST00000367501.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_length": 900,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4054,
"cdna_start": null,
"cds_end": null,
"cds_length": 2703,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860005.1",
"gene_hgnc_id": 16785,
"gene_symbol": "SWT1",
"hgvs_c": "c.2442-3943G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530064.1",
"strand": true,
"transcript": "ENST00000860005.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000860008.1",
"gene_hgnc_id": 16785,
"gene_symbol": "SWT1",
"hgvs_c": "c.2442-3943G>A",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530067.1",
"strand": true,
"transcript": "ENST00000860008.1",
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},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000860010.1",
"gene_hgnc_id": 16785,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000530069.1",
"strand": true,
"transcript": "ENST00000860010.1",
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},
{
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],
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"feature": "ENST00000860011.1",
"gene_hgnc_id": 16785,
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"protein_coding": true,
"protein_id": "ENSP00000530070.1",
"strand": true,
"transcript": "ENST00000860011.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000932221.1",
"gene_hgnc_id": 16785,
"gene_symbol": "SWT1",
"hgvs_c": "c.2442-3943G>A",
"hgvs_p": null,
"intron_rank": 16,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000602280.1",
"strand": true,
"transcript": "ENST00000932221.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 19,
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"feature": "ENST00000952357.1",
"gene_hgnc_id": 16785,
"gene_symbol": "SWT1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000622416.1",
"strand": true,
"transcript": "ENST00000952357.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000932223.1",
"gene_hgnc_id": 16785,
"gene_symbol": "SWT1",
"hgvs_c": "c.2409-3943G>A",
"hgvs_p": null,
"intron_rank": 16,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602282.1",
"strand": true,
"transcript": "ENST00000932223.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860006.1",
"gene_hgnc_id": 16785,
"gene_symbol": "SWT1",
"hgvs_c": "c.2400-3943G>A",
"hgvs_p": null,
"intron_rank": 16,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000530065.1",
"strand": true,
"transcript": "ENST00000860006.1",
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},
{
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],
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"feature": "ENST00000932224.1",
"gene_hgnc_id": 16785,
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"mane_plus": null,
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"protein_id": "ENSP00000602283.1",
"strand": true,
"transcript": "ENST00000932224.1",
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},
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],
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"feature": "ENST00000932222.1",
"gene_hgnc_id": 16785,
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"hgvs_c": "c.2382-3943G>A",
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"protein_coding": true,
"protein_id": "ENSP00000602281.1",
"strand": true,
"transcript": "ENST00000932222.1",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
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"feature": "ENST00000952359.1",
"gene_hgnc_id": 16785,
"gene_symbol": "SWT1",
"hgvs_c": "c.2382-3943G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622418.1",
"strand": true,
"transcript": "ENST00000952359.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2601,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860009.1",
"gene_hgnc_id": 16785,
"gene_symbol": "SWT1",
"hgvs_c": "c.2340-3943G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530068.1",
"strand": true,
"transcript": "ENST00000860009.1",
"transcript_support_level": null
},
{
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