← Back to variant description
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: 7-73693403-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=73693403&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 73693403,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000265758.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD23",
"gene_hgnc_id": 16405,
"hgvs_c": "c.585C>T",
"hgvs_p": "p.Ala195Ala",
"transcript": "NM_017528.5",
"protein_id": "NP_059998.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 281,
"cds_start": 585,
"cds_end": null,
"cds_length": 846,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 1201,
"mane_select": "ENST00000265758.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD23",
"gene_hgnc_id": 16405,
"hgvs_c": "c.585C>T",
"hgvs_p": "p.Ala195Ala",
"transcript": "ENST00000265758.7",
"protein_id": "ENSP00000265758.3",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 281,
"cds_start": 585,
"cds_end": null,
"cds_length": 846,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 1201,
"mane_select": "NM_017528.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD23",
"gene_hgnc_id": 16405,
"hgvs_c": "c.585C>T",
"hgvs_p": "p.Ala195Ala",
"transcript": "NM_001202560.3",
"protein_id": "NP_001189489.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 298,
"cds_start": 585,
"cds_end": null,
"cds_length": 897,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 1252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD23",
"gene_hgnc_id": 16405,
"hgvs_c": "c.654C>T",
"hgvs_p": "p.Ala218Ala",
"transcript": "XM_006715847.2",
"protein_id": "XP_006715910.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 304,
"cds_start": 654,
"cds_end": null,
"cds_length": 915,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 1298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD23",
"gene_hgnc_id": 16405,
"hgvs_c": "c.654C>T",
"hgvs_p": "p.Ala218Ala",
"transcript": "XM_011515778.2",
"protein_id": "XP_011514080.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 271,
"cds_start": 654,
"cds_end": null,
"cds_length": 816,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 1239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD23",
"gene_hgnc_id": 16405,
"hgvs_c": "c.585C>T",
"hgvs_p": "p.Ala195Ala",
"transcript": "XM_011515779.3",
"protein_id": "XP_011514081.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 248,
"cds_start": 585,
"cds_end": null,
"cds_length": 747,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 1142,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD23",
"gene_hgnc_id": 16405,
"hgvs_c": "n.810C>T",
"hgvs_p": null,
"transcript": "NR_037776.3",
"protein_id": null,
"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": 1397,
"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": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD23",
"gene_hgnc_id": 16405,
"hgvs_c": "n.517C>T",
"hgvs_p": null,
"transcript": "NR_045512.2",
"protein_id": null,
"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": 1104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BUD23",
"gene_hgnc_id": 16405,
"dbsnp": "rs79257360",
"frequency_reference_population": 0.0022910289,
"hom_count_reference_population": 70,
"allele_count_reference_population": 3698,
"gnomad_exomes_af": 0.00126211,
"gnomad_genomes_af": 0.0121681,
"gnomad_exomes_ac": 1845,
"gnomad_genomes_ac": 1853,
"gnomad_exomes_homalt": 31,
"gnomad_genomes_homalt": 39,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"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": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.16,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000265758.7",
"gene_symbol": "BUD23",
"hgnc_id": 16405,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.585C>T",
"hgvs_p": "p.Ala195Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}