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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: 4-37999551-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=37999551&ref=A&alt=G&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": "TBC1D1",
"hgnc_id": 11578,
"hgvs_c": "c.418-14958A>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001396959.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 88985,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8600000143051147,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1262,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5985,
"cdna_start": null,
"cds_end": null,
"cds_length": 3789,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001396959.1",
"gene_hgnc_id": 11578,
"gene_symbol": "TBC1D1",
"hgvs_c": "c.418-14958A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000698857.1",
"protein_coding": true,
"protein_id": "NP_001383888.1",
"strand": true,
"transcript": "NM_001396959.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1262,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5985,
"cdna_start": null,
"cds_end": null,
"cds_length": 3789,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000698857.1",
"gene_hgnc_id": 11578,
"gene_symbol": "TBC1D1",
"hgvs_c": "c.418-14958A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001396959.1",
"protein_coding": true,
"protein_id": "ENSP00000513987.1",
"strand": true,
"transcript": "ENST00000698857.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5703,
"cdna_start": null,
"cds_end": null,
"cds_length": 3507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261439.9",
"gene_hgnc_id": 11578,
"gene_symbol": "TBC1D1",
"hgvs_c": "c.418-14958A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261439.4",
"strand": true,
"transcript": "ENST00000261439.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1275,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6140,
"cdna_start": null,
"cds_end": null,
"cds_length": 3828,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961338.1",
"gene_hgnc_id": 11578,
"gene_symbol": "TBC1D1",
"hgvs_c": "c.418-14958A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631397.1",
"strand": true,
"transcript": "ENST00000961338.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1269,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4638,
"cdna_start": null,
"cds_end": null,
"cds_length": 3810,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859648.1",
"gene_hgnc_id": 11578,
"gene_symbol": "TBC1D1",
"hgvs_c": "c.418-14958A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529707.1",
"strand": true,
"transcript": "ENST00000859648.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1249,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6194,
"cdna_start": null,
"cds_end": null,
"cds_length": 3750,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859644.1",
"gene_hgnc_id": 11578,
"gene_symbol": "TBC1D1",
"hgvs_c": "c.418-14958A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529703.1",
"strand": true,
"transcript": "ENST00000859644.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1232,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4338,
"cdna_start": null,
"cds_end": null,
"cds_length": 3699,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859649.1",
"gene_hgnc_id": 11578,
"gene_symbol": "TBC1D1",
"hgvs_c": "c.418-14958A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529708.1",
"strand": true,
"transcript": "ENST00000859649.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1225,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4158,
"cdna_start": null,
"cds_end": null,
"cds_length": 3678,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961343.1",
"gene_hgnc_id": 11578,
"gene_symbol": "TBC1D1",
"hgvs_c": "c.418-14958A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631402.1",
"strand": true,
"transcript": "ENST00000961343.1",
"transcript_support_level": null
},
{
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"aa_length": 1221,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5979,
"cdna_start": null,
"cds_end": null,
"cds_length": 3666,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000961337.1",
"gene_hgnc_id": 11578,
"gene_symbol": "TBC1D1",
"hgvs_c": "c.418-14958A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631396.1",
"strand": true,
"transcript": "ENST00000961337.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 4293,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859650.1",
"gene_hgnc_id": 11578,
"gene_symbol": "TBC1D1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000529709.1",
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"transcript": "ENST00000859650.1",
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},
{
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"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
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"feature": "ENST00000936241.1",
"gene_hgnc_id": 11578,
"gene_symbol": "TBC1D1",
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"protein_coding": true,
"protein_id": "ENSP00000606300.1",
"strand": true,
"transcript": "ENST00000936241.1",
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},
{
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],
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"feature": "ENST00000859647.1",
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"mane_plus": null,
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},
{
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],
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"feature": "ENST00000961340.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000631399.1",
"strand": true,
"transcript": "ENST00000961340.1",
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},
{
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"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000859651.1",
"gene_hgnc_id": 11578,
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"hgvs_c": "c.418-14958A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000529710.1",
"strand": true,
"transcript": "ENST00000859651.1",
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},
{
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],
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"feature": "NM_015173.4",
"gene_hgnc_id": 11578,
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"hgvs_c": "c.418-14958A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_055988.2",
"strand": true,
"transcript": "NM_015173.4",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 21,
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"feature": "NM_001253912.2",
"gene_hgnc_id": 11578,
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"hgvs_c": "c.418-14958A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001240841.1",
"strand": true,
"transcript": "NM_001253912.2",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
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"feature": "ENST00000508802.5",
"gene_hgnc_id": 11578,
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"transcript": "ENST00000508802.5",
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},
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"feature": "ENST00000859645.1",
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},
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],
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"feature": "ENST00000936240.1",
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},
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"cds_start": null,
"consequences": [
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],
"exon_count": 20,
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"feature": "ENST00000961339.1",
"gene_hgnc_id": 11578,
"gene_symbol": "TBC1D1",
"hgvs_c": "c.418-14958A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000631398.1",
"strand": true,
"transcript": "ENST00000961339.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
"cds_end": null,
"cds_length": 3345,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000961341.1",
"gene_hgnc_id": 11578,
"gene_symbol": "TBC1D1",
"hgvs_c": "c.418-14958A>G",
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"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000631400.1",
"strand": true,
"transcript": "ENST00000961341.1",
"transcript_support_level": null
},
{
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