← 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: 22-37226693-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37226693&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37226693,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002872.5",
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC2",
"gene_hgnc_id": 9802,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187Cys",
"transcript": "NM_002872.5",
"protein_id": "NP_002863.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 192,
"cds_start": 559,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000249071.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002872.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC2",
"gene_hgnc_id": 9802,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187Cys",
"transcript": "ENST00000249071.11",
"protein_id": "ENSP00000249071.6",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 192,
"cds_start": 559,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002872.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000249071.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC2",
"gene_hgnc_id": 9802,
"hgvs_c": "n.384C>T",
"hgvs_p": null,
"transcript": "ENST00000481215.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481215.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC2",
"gene_hgnc_id": 9802,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187Cys",
"transcript": "ENST00000870381.1",
"protein_id": "ENSP00000540440.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 192,
"cds_start": 559,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870381.1"
},
{
"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": "RAC2",
"gene_hgnc_id": 9802,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187Cys",
"transcript": "ENST00000870383.1",
"protein_id": "ENSP00000540442.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 192,
"cds_start": 559,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870383.1"
},
{
"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": "RAC2",
"gene_hgnc_id": 9802,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "ENST00000405484.5",
"protein_id": "ENSP00000385590.1",
"transcript_support_level": 3,
"aa_start": 180,
"aa_end": null,
"aa_length": 185,
"cds_start": 538,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405484.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC2",
"gene_hgnc_id": 9802,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"transcript": "ENST00000870382.1",
"protein_id": "ENSP00000540441.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 171,
"cds_start": 496,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870382.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC2",
"gene_hgnc_id": 9802,
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"transcript": "ENST00000406508.5",
"protein_id": "ENSP00000385270.1",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 148,
"cds_start": 427,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406508.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC2",
"gene_hgnc_id": 9802,
"hgvs_c": "n.617C>T",
"hgvs_p": null,
"transcript": "ENST00000699915.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000699915.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAC2",
"gene_hgnc_id": 9802,
"hgvs_c": "c.*60C>T",
"hgvs_p": null,
"transcript": "ENST00000441619.5",
"protein_id": "ENSP00000403778.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": null,
"cds_end": null,
"cds_length": 499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441619.5"
}
],
"gene_symbol": "RAC2",
"gene_hgnc_id": 9802,
"dbsnp": "rs2145819256",
"frequency_reference_population": 0.0000013691372,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136914,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4414232671260834,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.222,
"revel_prediction": "Benign",
"alphamissense_score": 0.2695,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.819,
"phylop100way_prediction": "Benign",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002872.5",
"gene_symbol": "RAC2",
"hgnc_id": 9802,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Arg187Cys"
}
],
"clinvar_disease": "Neutrophil immunodeficiency syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Neutrophil immunodeficiency syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}