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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: X-71223830-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71223830&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 71223830,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000361726.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB1",
"gene_hgnc_id": 4283,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Glu41Asp",
"transcript": "NM_000166.6",
"protein_id": "NP_000157.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 283,
"cds_start": 123,
"cds_end": null,
"cds_length": 852,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 1937,
"mane_select": "ENST00000361726.7",
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB1",
"gene_hgnc_id": 4283,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Glu41Asp",
"transcript": "ENST00000361726.7",
"protein_id": "ENSP00000354900.6",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 283,
"cds_start": 123,
"cds_end": null,
"cds_length": 852,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 1937,
"mane_select": "NM_000166.6",
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB1",
"gene_hgnc_id": 4283,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Glu41Asp",
"transcript": "NM_001097642.3",
"protein_id": "NP_001091111.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 283,
"cds_start": 123,
"cds_end": null,
"cds_length": 852,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 1877,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB1",
"gene_hgnc_id": 4283,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Glu41Asp",
"transcript": "NM_001440770.1",
"protein_id": "NP_001427699.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 283,
"cds_start": 123,
"cds_end": null,
"cds_length": 852,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 2060,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB1",
"gene_hgnc_id": 4283,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Glu41Asp",
"transcript": "ENST00000374029.2",
"protein_id": "ENSP00000363141.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 283,
"cds_start": 123,
"cds_end": null,
"cds_length": 852,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 1625,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB1",
"gene_hgnc_id": 4283,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Glu41Asp",
"transcript": "ENST00000447581.2",
"protein_id": "ENSP00000407223.2",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 283,
"cds_start": 123,
"cds_end": null,
"cds_length": 852,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 2040,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB1",
"gene_hgnc_id": 4283,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Glu41Asp",
"transcript": "ENST00000645009.2",
"protein_id": "ENSP00000494142.2",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 283,
"cds_start": 123,
"cds_end": null,
"cds_length": 852,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 2069,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB1",
"gene_hgnc_id": 4283,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Glu41Asp",
"transcript": "ENST00000646835.1",
"protein_id": "ENSP00000494596.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 283,
"cds_start": 123,
"cds_end": null,
"cds_length": 852,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 1860,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB1",
"gene_hgnc_id": 4283,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Glu41Asp",
"transcript": "ENST00000647424.1",
"protein_id": "ENSP00000495960.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 283,
"cds_start": 123,
"cds_end": null,
"cds_length": 852,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 1603,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB1",
"gene_hgnc_id": 4283,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Glu41Asp",
"transcript": "ENST00000674549.1",
"protein_id": "ENSP00000502766.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 283,
"cds_start": 123,
"cds_end": null,
"cds_length": 852,
"cdna_start": 174,
"cdna_end": null,
"cdna_length": 1860,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB1",
"gene_hgnc_id": 4283,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Glu41Asp",
"transcript": "ENST00000674844.1",
"protein_id": "ENSP00000502556.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 283,
"cds_start": 123,
"cds_end": null,
"cds_length": 852,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 1938,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB1",
"gene_hgnc_id": 4283,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Glu41Asp",
"transcript": "ENST00000675209.1",
"protein_id": "ENSP00000501813.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 283,
"cds_start": 123,
"cds_end": null,
"cds_length": 852,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 2086,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB1",
"gene_hgnc_id": 4283,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Glu41Asp",
"transcript": "ENST00000675368.1",
"protein_id": "ENSP00000501757.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 283,
"cds_start": 123,
"cds_end": null,
"cds_length": 852,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 3874,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB1",
"gene_hgnc_id": 4283,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Glu41Asp",
"transcript": "ENST00000675609.1",
"protein_id": "ENSP00000501571.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 283,
"cds_start": 123,
"cds_end": null,
"cds_length": 852,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GJB1",
"gene_hgnc_id": 4283,
"dbsnp": "rs116840816",
"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": 0.9852811098098755,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.863,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6736,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.221,
"phylop100way_prediction": "Uncertain_significance",
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000361726.7",
"gene_symbol": "GJB1",
"hgnc_id": 4283,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Glu41Asp"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease X-linked dominant 1",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Charcot-Marie-Tooth disease X-linked dominant 1|Charcot-Marie-Tooth disease",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}