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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: 9-99135450-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=99135450&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 99135450,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000374994.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.575-2409A>G",
"hgvs_p": null,
"transcript": "NM_004612.4",
"protein_id": "NP_004603.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": -4,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6492,
"mane_select": "ENST00000374994.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.575-2409A>G",
"hgvs_p": null,
"transcript": "ENST00000374994.9",
"protein_id": "ENSP00000364133.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": -4,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6492,
"mane_select": "NM_004612.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.587-2409A>G",
"hgvs_p": null,
"transcript": "ENST00000552516.5",
"protein_id": "ENSP00000447297.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": -4,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.344-2409A>G",
"hgvs_p": null,
"transcript": "ENST00000374990.6",
"protein_id": "ENSP00000364129.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": -4,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.587-2409A>G",
"hgvs_p": null,
"transcript": "NM_001306210.2",
"protein_id": "NP_001293139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": -4,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.575-2409A>G",
"hgvs_p": null,
"transcript": "ENST00000714345.1",
"protein_id": "ENSP00000519616.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 502,
"cds_start": -4,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.575-2409A>G",
"hgvs_p": null,
"transcript": "ENST00000714348.1",
"protein_id": "ENSP00000519619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": -4,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.587-2409A>G",
"hgvs_p": null,
"transcript": "NM_001407416.1",
"protein_id": "NP_001394345.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": -4,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.575-2409A>G",
"hgvs_p": null,
"transcript": "NM_001407417.1",
"protein_id": "NP_001394346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.380-2409A>G",
"hgvs_p": null,
"transcript": "NM_001407418.1",
"protein_id": "NP_001394347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.380-2409A>G",
"hgvs_p": null,
"transcript": "NM_001407419.1",
"protein_id": "NP_001394348.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "TGFBR1",
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"hgvs_c": "c.380-2409A>G",
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"transcript": "NM_001407420.1",
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 10,
"intron_rank": 4,
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"gene_symbol": "TGFBR1",
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"hgvs_c": "c.380-2409A>G",
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"transcript": "NM_001407422.1",
"protein_id": "NP_001394351.1",
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},
{
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"strand": true,
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],
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"intron_rank": 3,
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"gene_symbol": "TGFBR1",
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"hgvs_c": "c.380-2409A>G",
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"transcript": "ENST00000552573.7",
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},
{
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],
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"gene_symbol": "TGFBR1",
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"transcript": "ENST00000698941.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "TGFBR1",
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"hgvs_c": "c.368-2409A>G",
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},
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],
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"gene_symbol": "TGFBR1",
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"hgvs_c": "c.368-2409A>G",
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"transcript": "NM_001407424.1",
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},
{
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],
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"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.368-2409A>G",
"hgvs_p": null,
"transcript": "NM_001407425.1",
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},
{
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],
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"gene_symbol": "TGFBR1",
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"transcript": "NM_001407426.1",
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],
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},
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],
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.368-2409A>G",
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"transcript": "NM_001407429.1",
"protein_id": "NP_001394358.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.368-2409A>G",
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"transcript": "NM_001407430.1",
"protein_id": "NP_001394359.1",
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"canonical": false,
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"strand": true,
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"gene_symbol": "TGFBR1",
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}
],
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"dbsnp": "rs928180",
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0709181,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 10797,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 467,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.65,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"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": "ENST00000374994.9",
"gene_symbol": "TGFBR1",
"hgnc_id": 11772,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.575-2409A>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}