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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: 20-47636144-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=47636144&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP7",
"BS2_Supporting"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "NCOA3",
"hgnc_id": 7670,
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Gln586Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_181659.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP7,BS2_Supporting",
"acmg_score": -6,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5299999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1424,
"aa_ref": "Q",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7961,
"cdna_start": 1989,
"cds_end": null,
"cds_length": 4275,
"cds_start": 1758,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_181659.3",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Gln586Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371998.8",
"protein_coding": true,
"protein_id": "NP_858045.1",
"strand": true,
"transcript": "NM_181659.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1424,
"aa_ref": "Q",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7961,
"cdna_start": 1989,
"cds_end": null,
"cds_length": 4275,
"cds_start": 1758,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000371998.8",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Gln586Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_181659.3",
"protein_coding": true,
"protein_id": "ENSP00000361066.3",
"strand": true,
"transcript": "ENST00000371998.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1420,
"aa_ref": "Q",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7939,
"cdna_start": 1974,
"cds_end": null,
"cds_length": 4263,
"cds_start": 1758,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000372004.7",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Gln586Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361073.1",
"strand": true,
"transcript": "ENST00000372004.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1415,
"aa_ref": "Q",
"aa_start": 596,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6750,
"cdna_start": 1965,
"cds_end": null,
"cds_length": 4248,
"cds_start": 1788,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000371997.3",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
"hgvs_c": "c.1788G>A",
"hgvs_p": "p.Gln596Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361065.3",
"strand": true,
"transcript": "ENST00000371997.3",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1424,
"aa_ref": "Q",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5989,
"cdna_start": 2103,
"cds_end": null,
"cds_length": 4275,
"cds_start": 1758,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888900.1",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Gln586Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558959.1",
"strand": true,
"transcript": "ENST00000888900.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1424,
"aa_ref": "Q",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5779,
"cdna_start": 1910,
"cds_end": null,
"cds_length": 4275,
"cds_start": 1758,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000888901.1",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Gln586Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558960.1",
"strand": true,
"transcript": "ENST00000888901.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "Q",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7958,
"cdna_start": 1989,
"cds_end": null,
"cds_length": 4272,
"cds_start": 1758,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001174087.2",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Gln586Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001167558.1",
"strand": true,
"transcript": "NM_001174087.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "Q",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7981,
"cdna_start": 2012,
"cds_end": null,
"cds_length": 4272,
"cds_start": 1758,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000888893.1",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Gln586Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558952.1",
"strand": true,
"transcript": "ENST00000888893.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "Q",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7024,
"cdna_start": 2173,
"cds_end": null,
"cds_length": 4272,
"cds_start": 1758,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888898.1",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Gln586Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558957.1",
"strand": true,
"transcript": "ENST00000888898.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1423,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6734,
"cdna_start": 2077,
"cds_end": null,
"cds_length": 4272,
"cds_start": 1758,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000888899.1",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Gln586Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558958.1",
"strand": true,
"transcript": "ENST00000888899.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1423,
"aa_ref": "Q",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5414,
"cdna_start": 1971,
"cds_end": null,
"cds_length": 4272,
"cds_start": 1758,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000888904.1",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Gln586Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558963.1",
"strand": true,
"transcript": "ENST00000888904.1",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7966,
"cdna_start": 1997,
"cds_end": null,
"cds_length": 4272,
"cds_start": 1758,
"consequences": [
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],
"exon_count": 24,
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"exon_rank_end": null,
"feature": "ENST00000938649.1",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Gln586Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608708.1",
"strand": true,
"transcript": "ENST00000938649.1",
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},
{
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"cdna_start": 1933,
"cds_end": null,
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"consequences": [
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],
"exon_count": 22,
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"exon_rank_end": null,
"feature": "ENST00000938650.1",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Gln586Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608709.1",
"strand": true,
"transcript": "ENST00000938650.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1989,
"cds_end": null,
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"cds_start": 1758,
"consequences": [
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],
"exon_count": 23,
"exon_rank": 12,
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"feature": "NM_006534.4",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Gln586Gln",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_006525.2",
"strand": true,
"transcript": "NM_006534.4",
"transcript_support_level": null
},
{
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"cdna_start": 1886,
"cds_end": null,
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"consequences": [
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],
"exon_count": 22,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000938647.1",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Gln586Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608706.1",
"strand": true,
"transcript": "ENST00000938647.1",
"transcript_support_level": null
},
{
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"cdna_start": 2024,
"cds_end": null,
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"consequences": [
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],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000943160.1",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Gln586Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613219.1",
"strand": true,
"transcript": "ENST00000943160.1",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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],
"exon_count": 24,
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"feature": "ENST00000888894.1",
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
"transcript": "ENST00000888894.1",
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},
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],
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"feature": "ENST00000888896.1",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000558955.1",
"strand": true,
"transcript": "ENST00000888896.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000888902.1",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
"hgvs_c": "c.1737G>A",
"hgvs_p": "p.Gln579Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558961.1",
"strand": true,
"transcript": "ENST00000888902.1",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7911,
"cdna_start": 1942,
"cds_end": null,
"cds_length": 4251,
"cds_start": 1737,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000938648.1",
"gene_hgnc_id": 7670,
"gene_symbol": "NCOA3",
"hgvs_c": "c.1737G>A",
"hgvs_p": "p.Gln579Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608707.1",
"strand": true,
"transcript": "ENST00000938648.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1415,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7934,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 4248,
"cds_start": 1788,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
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