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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: 17-7455824-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7455824&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7455824,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000306071.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB1",
"gene_hgnc_id": 1961,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Leu416Leu",
"transcript": "NM_000747.3",
"protein_id": "NP_000738.2",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 501,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 2560,
"mane_select": "ENST00000306071.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB1",
"gene_hgnc_id": 1961,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Leu416Leu",
"transcript": "ENST00000306071.7",
"protein_id": "ENSP00000304290.2",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 501,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 2560,
"mane_select": "NM_000747.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB1",
"gene_hgnc_id": 1961,
"hgvs_c": "c.1032G>A",
"hgvs_p": "p.Leu344Leu",
"transcript": "ENST00000536404.6",
"protein_id": "ENSP00000439209.2",
"transcript_support_level": 2,
"aa_start": 344,
"aa_end": null,
"aa_length": 429,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB1",
"gene_hgnc_id": 1961,
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Leu295Leu",
"transcript": "ENST00000576360.1",
"protein_id": "ENSP00000459092.1",
"transcript_support_level": 3,
"aa_start": 295,
"aa_end": null,
"aa_length": 380,
"cds_start": 885,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB1",
"gene_hgnc_id": 1961,
"hgvs_c": "c.909G>A",
"hgvs_p": "p.Leu303Leu",
"transcript": "ENST00000570557.5",
"protein_id": "ENSP00000460648.1",
"transcript_support_level": 5,
"aa_start": 303,
"aa_end": null,
"aa_length": 314,
"cds_start": 909,
"cds_end": null,
"cds_length": 945,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB1",
"gene_hgnc_id": 1961,
"hgvs_c": "c.-145G>A",
"hgvs_p": null,
"transcript": "ENST00000575379.1",
"protein_id": "ENSP00000461751.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 37,
"cds_start": -4,
"cds_end": null,
"cds_length": 114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "CHRNB1",
"gene_hgnc_id": 1961,
"hgvs_c": "n.*135G>A",
"hgvs_p": null,
"transcript": "ENST00000573209.1",
"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": 2394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHRNB1",
"gene_hgnc_id": 1961,
"dbsnp": "rs774757392",
"frequency_reference_population": 0.000032217813,
"hom_count_reference_population": 0,
"allele_count_reference_population": 52,
"gnomad_exomes_af": 0.000030782,
"gnomad_genomes_af": 0.0000460163,
"gnomad_exomes_ac": 45,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.173,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000306071.7",
"gene_symbol": "CHRNB1",
"hgnc_id": 1961,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Leu416Leu"
}
],
"clinvar_disease": "Congenital myasthenic syndrome 2A,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Congenital myasthenic syndrome 2A|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}