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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: 7-35670232-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=35670232&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 35670232,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000311350.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Ala108Pro",
"transcript": "NM_022373.5",
"protein_id": "NP_071768.3",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 406,
"cds_start": 322,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": "ENST00000311350.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Ala108Pro",
"transcript": "ENST00000311350.8",
"protein_id": "ENSP00000310729.3",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 406,
"cds_start": 322,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": "NM_022373.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Ala108Pro",
"transcript": "ENST00000396081.5",
"protein_id": "ENSP00000379390.1",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 406,
"cds_start": 322,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 3057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Ala108Pro",
"transcript": "NM_001438072.1",
"protein_id": "NP_001425001.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 406,
"cds_start": 322,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 3057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Ala82Pro",
"transcript": "ENST00000413517.1",
"protein_id": "ENSP00000391015.1",
"transcript_support_level": 5,
"aa_start": 82,
"aa_end": null,
"aa_length": 189,
"cds_start": 244,
"cds_end": null,
"cds_length": 572,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Ala108Pro",
"transcript": "XM_047420699.1",
"protein_id": "XP_047276655.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 205,
"cds_start": 322,
"cds_end": null,
"cds_length": 618,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 1511,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.148-2644G>C",
"hgvs_p": null,
"transcript": "NM_001438070.1",
"protein_id": "NP_001424999.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2692,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.148-2644G>C",
"hgvs_p": null,
"transcript": "NM_001438071.1",
"protein_id": "NP_001425000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2865,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.148-2644G>C",
"hgvs_p": null,
"transcript": "ENST00000438224.5",
"protein_id": "ENSP00000415475.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": -4,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 811,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HERPUD2",
"gene_hgnc_id": 21915,
"hgvs_c": "c.148-2644G>C",
"hgvs_p": null,
"transcript": "ENST00000427455.1",
"protein_id": "ENSP00000412895.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": -4,
"cds_end": null,
"cds_length": 182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HERPUD2",
"gene_hgnc_id": 21915,
"dbsnp": "rs3779234",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23921287059783936,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.0668,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.963,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000311350.8",
"gene_symbol": "HERPUD2",
"hgnc_id": 21915,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Ala108Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}