← 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: 10-133310225-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=133310225&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 133310225,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_145806.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF511",
"gene_hgnc_id": 28445,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.His164Arg",
"transcript": "NM_145806.4",
"protein_id": "NP_665805.2",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 252,
"cds_start": 491,
"cds_end": null,
"cds_length": 759,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 1084,
"mane_select": "ENST00000361518.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF511",
"gene_hgnc_id": 28445,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.His164Arg",
"transcript": "ENST00000361518.10",
"protein_id": "ENSP00000355251.5",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 252,
"cds_start": 491,
"cds_end": null,
"cds_length": 759,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 1084,
"mane_select": "NM_145806.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF511-PRAP1",
"gene_hgnc_id": 38088,
"hgvs_c": "c.317A>G",
"hgvs_p": "p.His106Arg",
"transcript": "ENST00000368554.8",
"protein_id": "ENSP00000357542.5",
"transcript_support_level": 2,
"aa_start": 106,
"aa_end": null,
"aa_length": 317,
"cds_start": 317,
"cds_end": null,
"cds_length": 954,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 1044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF511-PRAP1",
"gene_hgnc_id": 38088,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.His164Arg",
"transcript": "NM_001396060.1",
"protein_id": "NP_001382989.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 375,
"cds_start": 491,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF511",
"gene_hgnc_id": 28445,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.His164Arg",
"transcript": "ENST00000359035.4",
"protein_id": "ENSP00000351929.3",
"transcript_support_level": 2,
"aa_start": 164,
"aa_end": null,
"aa_length": 262,
"cds_start": 491,
"cds_end": null,
"cds_length": 789,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 2004,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF511",
"gene_hgnc_id": 28445,
"hgvs_c": "n.86A>G",
"hgvs_p": null,
"transcript": "ENST00000463816.2",
"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": 605,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF511",
"gene_hgnc_id": 28445,
"hgvs_c": "n.486A>G",
"hgvs_p": null,
"transcript": "ENST00000482153.1",
"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": 807,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF511",
"gene_hgnc_id": 28445,
"hgvs_c": "n.521A>G",
"hgvs_p": null,
"transcript": "NR_130127.2",
"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": 1025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "c.-39-7245T>C",
"hgvs_p": null,
"transcript": "ENST00000682123.1",
"protein_id": "ENSP00000507610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 902,
"cds_start": -4,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.-40+1395T>C",
"hgvs_p": null,
"transcript": "ENST00000482278.5",
"protein_id": "ENSP00000436438.1",
"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": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TUBGCP2",
"gene_hgnc_id": 18599,
"hgvs_c": "n.718+1395T>C",
"hgvs_p": null,
"transcript": "NR_046330.2",
"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": 4560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF511",
"gene_hgnc_id": 28445,
"dbsnp": "rs747778765",
"frequency_reference_population": 0.00002602253,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000253126,
"gnomad_genomes_af": 0.0000328373,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.833360493183136,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.682,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9484,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.511,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_145806.4",
"gene_symbol": "ZNF511",
"hgnc_id": 28445,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.491A>G",
"hgvs_p": "p.His164Arg"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000368554.8",
"gene_symbol": "ZNF511-PRAP1",
"hgnc_id": 38088,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.317A>G",
"hgvs_p": "p.His106Arg"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000482278.5",
"gene_symbol": "TUBGCP2",
"hgnc_id": 18599,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.-40+1395T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}