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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: 12-7864329-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=7864329&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 7864329,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000431042.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.18+5534C>T",
"hgvs_p": null,
"transcript": "NM_001286234.2",
"protein_id": "NP_001273163.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": -4,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": "ENST00000431042.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.18+5534C>T",
"hgvs_p": null,
"transcript": "ENST00000431042.7",
"protein_id": "ENSP00000407287.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": -4,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": "NM_001286234.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.-2-872C>T",
"hgvs_p": null,
"transcript": "ENST00000396589.6",
"protein_id": "ENSP00000379834.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": -4,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.-2-872C>T",
"hgvs_p": null,
"transcript": "ENST00000543909.5",
"protein_id": "ENSP00000440480.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": -4,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.-145+8690C>T",
"hgvs_p": null,
"transcript": "ENST00000542505.5",
"protein_id": "ENSP00000438484.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": -4,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.132+26667C>T",
"hgvs_p": null,
"transcript": "NM_001286237.2",
"protein_id": "NP_001273166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 535,
"cds_start": -4,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.132+26667C>T",
"hgvs_p": null,
"transcript": "ENST00000539924.5",
"protein_id": "ENSP00000445929.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 535,
"cds_start": -4,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.-2-872C>T",
"hgvs_p": null,
"transcript": "NM_001286233.2",
"protein_id": "NP_001273162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": -4,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.-2-872C>T",
"hgvs_p": null,
"transcript": "NM_153449.4",
"protein_id": "NP_703150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": -4,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.18+5534C>T",
"hgvs_p": null,
"transcript": "NM_001286235.2",
"protein_id": "NP_001273164.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3760,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
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"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.18+5534C>T",
"hgvs_p": null,
"transcript": "ENST00000340749.9",
"protein_id": "ENSP00000340450.5",
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"aa_start": null,
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},
{
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"strand": false,
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],
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"gene_symbol": "SLC2A14",
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"transcript": "NM_001286236.2",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 10,
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"gene_symbol": "SLC2A14",
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"hgvs_c": "c.-80+5534C>T",
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"transcript": "ENST00000535295.5",
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},
{
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],
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"gene_symbol": "SLC2A14",
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"hgvs_c": "c.18+5534C>T",
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},
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],
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"transcript": "ENST00000542782.5",
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},
{
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],
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"gene_symbol": "SLC2A14",
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},
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],
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"gene_symbol": "SLC2A14",
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"hgvs_c": "c.18+5534C>T",
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"transcript": "ENST00000535344.5",
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},
{
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"consequences": [
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],
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"exon_count": 6,
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"gene_symbol": "SLC2A14",
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"hgvs_c": "c.-2-872C>T",
"hgvs_p": null,
"transcript": "ENST00000535266.5",
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},
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],
"exon_rank": null,
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"gene_symbol": "SLC2A14",
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"transcript": "ENST00000542916.5",
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},
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],
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},
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],
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.19-872C>T",
"hgvs_p": null,
"transcript": "ENST00000539234.5",
"protein_id": "ENSP00000444692.1",
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"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "n.18+5534C>T",
"hgvs_p": null,
"transcript": "ENST00000536594.5",
"protein_id": "ENSP00000440980.1",
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}
],
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"dbsnp": "rs11612319",
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"gnomad_genomes_af": 0.258263,
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"gnomad_genomes_ac": 39164,
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"gnomad_genomes_homalt": 5676,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.01,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.159,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000431042.7",
"gene_symbol": "SLC2A14",
"hgnc_id": 18301,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.18+5534C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}