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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: 2-72132349-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=72132349&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 72132349,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_019885.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP26B1",
"gene_hgnc_id": 20581,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Arg473Cys",
"transcript": "NM_019885.4",
"protein_id": "NP_063938.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 512,
"cds_start": 1417,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": "ENST00000001146.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019885.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP26B1",
"gene_hgnc_id": 20581,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Arg473Cys",
"transcript": "ENST00000001146.7",
"protein_id": "ENSP00000001146.2",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 512,
"cds_start": 1417,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": "NM_019885.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000001146.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP26B1",
"gene_hgnc_id": 20581,
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Arg398Cys",
"transcript": "ENST00000546307.5",
"protein_id": "ENSP00000443304.1",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 437,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 4331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546307.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP26B1",
"gene_hgnc_id": 20581,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282Cys",
"transcript": "ENST00000412253.1",
"protein_id": "ENSP00000401465.1",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 321,
"cds_start": 844,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 4025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412253.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP26B1",
"gene_hgnc_id": 20581,
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Arg398Cys",
"transcript": "NM_001277742.2",
"protein_id": "NP_001264671.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 437,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 4331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277742.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP26B1",
"gene_hgnc_id": 20581,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Arg415Cys",
"transcript": "XM_005264433.5",
"protein_id": "XP_005264490.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 454,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1881,
"cdna_end": null,
"cdna_length": 4992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264433.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP26B1",
"gene_hgnc_id": 20581,
"hgvs_c": "c.1099C>T",
"hgvs_p": "p.Arg367Cys",
"transcript": "XM_047445119.1",
"protein_id": "XP_047301075.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 406,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 4505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445119.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP26B1",
"gene_hgnc_id": 20581,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282Cys",
"transcript": "XM_011532988.2",
"protein_id": "XP_011531290.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 321,
"cds_start": 844,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532988.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP26B1",
"gene_hgnc_id": 20581,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282Cys",
"transcript": "XM_047445120.1",
"protein_id": "XP_047301076.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 321,
"cds_start": 844,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445120.1"
}
],
"gene_symbol": "CYP26B1",
"gene_hgnc_id": 20581,
"dbsnp": "rs61751056",
"frequency_reference_population": 0.0011144362,
"hom_count_reference_population": 19,
"allele_count_reference_population": 1795,
"gnomad_exomes_af": 0.000613685,
"gnomad_genomes_af": 0.00591024,
"gnomad_exomes_ac": 895,
"gnomad_genomes_ac": 900,
"gnomad_exomes_homalt": 8,
"gnomad_genomes_homalt": 11,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008088916540145874,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.266,
"revel_prediction": "Benign",
"alphamissense_score": 0.2289,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.31,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_019885.4",
"gene_symbol": "CYP26B1",
"hgnc_id": 20581,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Arg473Cys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}