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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: 16-88643386-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=88643386&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 88643386,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000101.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYBA",
"gene_hgnc_id": 2577,
"hgvs_c": "c.555C>A",
"hgvs_p": "p.Val185Val",
"transcript": "NM_000101.4",
"protein_id": "NP_000092.2",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 195,
"cds_start": 555,
"cds_end": null,
"cds_length": 588,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 692,
"mane_select": "ENST00000261623.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYBA",
"gene_hgnc_id": 2577,
"hgvs_c": "c.555C>A",
"hgvs_p": "p.Val185Val",
"transcript": "ENST00000261623.8",
"protein_id": "ENSP00000261623.3",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 195,
"cds_start": 555,
"cds_end": null,
"cds_length": 588,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 692,
"mane_select": "NM_000101.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"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": "CYBA",
"gene_hgnc_id": 2577,
"hgvs_c": "c.685C>A",
"hgvs_p": "p.Gln229Lys",
"transcript": "ENST00000696161.1",
"protein_id": "ENSP00000512451.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 254,
"cds_start": 685,
"cds_end": null,
"cds_length": 765,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYBA",
"gene_hgnc_id": 2577,
"hgvs_c": "c.582C>A",
"hgvs_p": "p.Val194Val",
"transcript": "ENST00000696160.1",
"protein_id": "ENSP00000512450.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 204,
"cds_start": 582,
"cds_end": null,
"cds_length": 615,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYBA",
"gene_hgnc_id": 2577,
"hgvs_c": "c.504C>A",
"hgvs_p": "p.Val168Val",
"transcript": "ENST00000696163.1",
"protein_id": "ENSP00000512453.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 178,
"cds_start": 504,
"cds_end": null,
"cds_length": 537,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYBA",
"gene_hgnc_id": 2577,
"hgvs_c": "c.471C>A",
"hgvs_p": "p.Val157Val",
"transcript": "ENST00000696156.1",
"protein_id": "ENSP00000512446.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 167,
"cds_start": 471,
"cds_end": null,
"cds_length": 504,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYBA",
"gene_hgnc_id": 2577,
"hgvs_c": "c.*1274C>A",
"hgvs_p": null,
"transcript": "ENST00000696162.1",
"protein_id": "ENSP00000512452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": -4,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYBA",
"gene_hgnc_id": 2577,
"hgvs_c": "c.*478C>A",
"hgvs_p": null,
"transcript": "ENST00000696159.1",
"protein_id": "ENSP00000512449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYBA",
"gene_hgnc_id": 2577,
"hgvs_c": "c.*809C>A",
"hgvs_p": null,
"transcript": "ENST00000696158.1",
"protein_id": "ENSP00000512448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": -4,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYBA",
"gene_hgnc_id": 2577,
"hgvs_c": "c.*772C>A",
"hgvs_p": null,
"transcript": "ENST00000696157.1",
"protein_id": "ENSP00000512447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": -4,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYBA",
"gene_hgnc_id": 2577,
"hgvs_c": "c.*1780C>A",
"hgvs_p": null,
"transcript": "XM_011522905.4",
"protein_id": "XP_011521207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": -4,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYBA",
"gene_hgnc_id": 2577,
"hgvs_c": "c.*128C>A",
"hgvs_p": null,
"transcript": "ENST00000565588.6",
"protein_id": "ENSP00000455537.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
"cds_end": null,
"cds_length": 437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYBA",
"gene_hgnc_id": 2577,
"hgvs_c": "c.*154C>A",
"hgvs_p": null,
"transcript": "ENST00000566229.1",
"protein_id": "ENSP00000457060.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": -4,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 405,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYBA",
"gene_hgnc_id": 2577,
"hgvs_c": "n.*128C>A",
"hgvs_p": null,
"transcript": "ENST00000566534.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CYBA",
"gene_hgnc_id": 2577,
"dbsnp": "rs2142869404",
"frequency_reference_population": 7.235984e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.23598e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.181,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_000101.4",
"gene_symbol": "CYBA",
"hgnc_id": 2577,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.555C>A",
"hgvs_p": "p.Val185Val"
}
],
"clinvar_disease": " autosomal recessive, chronic, cytochrome b-negative,Granulomatous disease",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}