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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: 1-231266156-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=231266156&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 231266156,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000366647.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.915G>T",
"hgvs_p": "p.Glu305Asp",
"transcript": "NM_014236.4",
"protein_id": "NP_055051.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 680,
"cds_start": 915,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": "ENST00000366647.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.915G>T",
"hgvs_p": "p.Glu305Asp",
"transcript": "ENST00000366647.9",
"protein_id": "ENSP00000355607.4",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 680,
"cds_start": 915,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": "NM_014236.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.732G>T",
"hgvs_p": "p.Glu244Asp",
"transcript": "NM_001316350.2",
"protein_id": "NP_001303279.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 619,
"cds_start": 732,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 2458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.885G>T",
"hgvs_p": "p.Glu295Asp",
"transcript": "ENST00000416000.1",
"protein_id": "ENSP00000411640.1",
"transcript_support_level": 5,
"aa_start": 295,
"aa_end": null,
"aa_length": 586,
"cds_start": 885,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.912G>T",
"hgvs_p": "p.Glu304Asp",
"transcript": "XM_005273313.5",
"protein_id": "XP_005273370.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 679,
"cds_start": 912,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "n.23G>T",
"hgvs_p": null,
"transcript": "ENST00000492459.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "n.*601G>T",
"hgvs_p": null,
"transcript": "ENST00000644483.1",
"protein_id": "ENSP00000496537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "n.*601G>T",
"hgvs_p": null,
"transcript": "ENST00000644483.1",
"protein_id": "ENSP00000496537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.*65G>T",
"hgvs_p": null,
"transcript": "ENST00000436239.5",
"protein_id": "ENSP00000402811.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": -4,
"cds_end": null,
"cds_length": 667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"dbsnp": "rs574553",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8134922385215759,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.524,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.953,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.632,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000366647.9",
"gene_symbol": "GNPAT",
"hgnc_id": 4416,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.915G>T",
"hgvs_p": "p.Glu305Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}