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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: 12-21334610-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21334610&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": [
"missense_variant"
],
"gene_symbol": "SLCO1A2",
"hgnc_id": 10956,
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_021094.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 185797,
"alphamissense_prediction": null,
"alphamissense_score": 0.1001,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0016459524631500244,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7114,
"cdna_start": 191,
"cds_end": null,
"cds_length": 2013,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001386879.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683939.1",
"protein_coding": true,
"protein_id": "NP_001373808.1",
"strand": false,
"transcript": "NM_001386879.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7114,
"cdna_start": 191,
"cds_end": null,
"cds_length": 2013,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000683939.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001386879.1",
"protein_coding": true,
"protein_id": "ENSP00000508235.1",
"strand": false,
"transcript": "ENST00000683939.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7682,
"cdna_start": 759,
"cds_end": null,
"cds_length": 2013,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000307378.10",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000305974.6",
"strand": false,
"transcript": "ENST00000307378.10",
"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": 2322,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000544020.5",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "n.-177T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000440154.1",
"strand": false,
"transcript": "ENST00000544020.5",
"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": 2322,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000544020.5",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "n.-177T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000440154.1",
"strand": false,
"transcript": "ENST00000544020.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7256,
"cdna_start": 333,
"cds_end": null,
"cds_length": 2013,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001386878.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373807.1",
"strand": false,
"transcript": "NM_001386878.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7109,
"cdna_start": 186,
"cds_end": null,
"cds_length": 2013,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001386880.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373809.1",
"strand": false,
"transcript": "NM_001386880.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7309,
"cdna_start": 386,
"cds_end": null,
"cds_length": 2013,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001386881.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373810.1",
"strand": false,
"transcript": "NM_001386881.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7258,
"cdna_start": 335,
"cds_end": null,
"cds_length": 2013,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001386882.2",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373811.1",
"strand": false,
"transcript": "NM_001386882.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7231,
"cdna_start": 308,
"cds_end": null,
"cds_length": 2013,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_021094.4",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_066580.1",
"strand": false,
"transcript": "NM_021094.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7750,
"cdna_start": 827,
"cds_end": null,
"cds_length": 2013,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_134431.5",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_602307.1",
"strand": false,
"transcript": "NM_134431.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": 220,
"cds_end": null,
"cds_length": 2013,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000938257.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608316.1",
"strand": false,
"transcript": "ENST00000938257.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": 655,
"cds_end": null,
"cds_length": 2013,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000938258.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608317.1",
"strand": false,
"transcript": "ENST00000938258.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2927,
"cdna_start": 293,
"cds_end": null,
"cds_length": 2013,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000938259.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608318.1",
"strand": false,
"transcript": "ENST00000938259.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2373,
"cdna_start": 245,
"cds_end": null,
"cds_length": 2013,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000938261.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608320.1",
"strand": false,
"transcript": "ENST00000938261.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 617,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7214,
"cdna_start": 186,
"cds_end": null,
"cds_length": 1854,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001386887.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373816.1",
"strand": false,
"transcript": "NM_001386887.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 590,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2617,
"cdna_start": 224,
"cds_end": null,
"cds_length": 1773,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000938260.1",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608319.1",
"strand": false,
"transcript": "ENST00000938260.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 146,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 580,
"cdna_start": 176,
"cds_end": null,
"cds_length": 442,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000422327.5",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416190.1",
"strand": false,
"transcript": "ENST00000422327.5",
"transcript_support_level": 4
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 135,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 717,
"cdna_start": 345,
"cds_end": null,
"cds_length": 410,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000453443.5",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409314.1",
"strand": false,
"transcript": "ENST00000453443.5",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 90,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 569,
"cdna_start": 334,
"cds_end": null,
"cds_length": 273,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000450590.5",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407462.1",
"strand": false,
"transcript": "ENST00000450590.5",
"transcript_support_level": 4
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 87,
"aa_ref": "I",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 562,
"cdna_start": 336,
"cds_end": null,
"cds_length": 264,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000435179.5",
"gene_hgnc_id": 10956,
"gene_symbol": "SLCO1A2",
"hgvs_c": "c.38T>C",
"hgvs_p": "p.Ile13Thr",
"intron_rank": null,
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