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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: 2-154425285-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=154425285&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 154425285,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000392825.8",
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.1396-13307G>A",
"hgvs_p": null,
"transcript": "NM_052917.4",
"protein_id": "NP_443149.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": -4,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": "ENST00000392825.8",
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.1396-13307G>A",
"hgvs_p": null,
"transcript": "ENST00000392825.8",
"protein_id": "ENSP00000376570.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": -4,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": "NM_052917.4",
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.1396-13307G>A",
"hgvs_p": null,
"transcript": "ENST00000409237.5",
"protein_id": "ENSP00000387239.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": -4,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2591,
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.1396-13307G>A",
"hgvs_p": null,
"transcript": "NM_001376403.1",
"protein_id": "NP_001363332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": -4,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5926,
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.1396-13307G>A",
"hgvs_p": null,
"transcript": "NM_001376404.1",
"protein_id": "NP_001363333.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": -4,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6053,
"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": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.1396-13307G>A",
"hgvs_p": null,
"transcript": "NM_001422879.1",
"protein_id": "NP_001409808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.1396-13307G>A",
"hgvs_p": null,
"transcript": "NM_001301627.2",
"protein_id": "NP_001288556.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 561,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.1396-13307G>A",
"hgvs_p": null,
"transcript": "NM_001376392.1",
"protein_id": "NP_001363321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": -4,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5728,
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.1396-13307G>A",
"hgvs_p": null,
"transcript": "NM_001376394.1",
"protein_id": "NP_001363323.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "GALNT13",
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"hgvs_c": "c.1396-13307G>A",
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"transcript": "NM_001376398.1",
"protein_id": "NP_001363327.1",
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},
{
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],
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"gene_symbol": "GALNT13",
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"hgvs_c": "c.1396-13307G>A",
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},
{
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],
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],
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],
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],
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},
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],
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"gene_symbol": "GALNT13",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
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],
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"gene_symbol": "GALNT13",
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}
],
"gene_symbol": "GALNT13",
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"dbsnp": "rs13407922",
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"hom_count_reference_population": 1501,
"allele_count_reference_population": 20195,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.13279,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 20195,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1501,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"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": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.348,
"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": "ENST00000392825.8",
"gene_symbol": "GALNT13",
"hgnc_id": 23242,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1396-13307G>A",
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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
}