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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: X-7350255-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=7350255&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 7350255,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000674429.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STS",
"gene_hgnc_id": 11425,
"hgvs_c": "c.1731C>G",
"hgvs_p": "p.Ser577Arg",
"transcript": "NM_001320752.2",
"protein_id": "NP_001307681.2",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 578,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 6622,
"mane_select": "ENST00000674429.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STS",
"gene_hgnc_id": 11425,
"hgvs_c": "c.1731C>G",
"hgvs_p": "p.Ser577Arg",
"transcript": "ENST00000674429.1",
"protein_id": "ENSP00000501534.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 578,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 6622,
"mane_select": "NM_001320752.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STS",
"gene_hgnc_id": 11425,
"hgvs_c": "c.1731C>G",
"hgvs_p": "p.Ser577Arg",
"transcript": "ENST00000217961.5",
"protein_id": "ENSP00000217961.5",
"transcript_support_level": 1,
"aa_start": 577,
"aa_end": null,
"aa_length": 578,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 6521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STS",
"gene_hgnc_id": 11425,
"hgvs_c": "c.1767C>G",
"hgvs_p": "p.Ser589Arg",
"transcript": "NM_001320750.3",
"protein_id": "NP_001307679.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 590,
"cds_start": 1767,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 6563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STS",
"gene_hgnc_id": 11425,
"hgvs_c": "c.1767C>G",
"hgvs_p": "p.Ser589Arg",
"transcript": "NM_001320751.2",
"protein_id": "NP_001307680.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 590,
"cds_start": 1767,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 2390,
"cdna_end": null,
"cdna_length": 6776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STS",
"gene_hgnc_id": 11425,
"hgvs_c": "c.1731C>G",
"hgvs_p": "p.Ser577Arg",
"transcript": "NM_000351.7",
"protein_id": "NP_000342.3",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 578,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 6352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STS",
"gene_hgnc_id": 11425,
"hgvs_c": "c.1731C>G",
"hgvs_p": "p.Ser577Arg",
"transcript": "NM_001320753.2",
"protein_id": "NP_001307682.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 578,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1833,
"cdna_end": null,
"cdna_length": 6219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STS",
"gene_hgnc_id": 11425,
"hgvs_c": "c.1731C>G",
"hgvs_p": "p.Ser577Arg",
"transcript": "NM_001320754.2",
"protein_id": "NP_001307683.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 578,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1981,
"cdna_end": null,
"cdna_length": 6367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STS",
"gene_hgnc_id": 11425,
"hgvs_c": "c.1731C>G",
"hgvs_p": "p.Ser577Arg",
"transcript": "ENST00000666110.2",
"protein_id": "ENSP00000499472.2",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 578,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 6547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STS",
"gene_hgnc_id": 11425,
"hgvs_c": "c.1731C>G",
"hgvs_p": "p.Ser577Arg",
"transcript": "XM_047442107.1",
"protein_id": "XP_047298063.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 578,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 6443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STS",
"gene_hgnc_id": 11425,
"hgvs_c": "c.1225+16148C>G",
"hgvs_p": null,
"transcript": "ENST00000660000.2",
"protein_id": "ENSP00000499642.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": -4,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "STS",
"gene_hgnc_id": 11425,
"hgvs_c": "n.1603+16148C>G",
"hgvs_p": null,
"transcript": "ENST00000658154.1",
"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": 3840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "STS",
"gene_hgnc_id": 11425,
"hgvs_c": "n.1363+16148C>G",
"hgvs_p": null,
"transcript": "ENST00000664306.2",
"protein_id": "ENSP00000499549.2",
"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": 3181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STS",
"gene_hgnc_id": 11425,
"dbsnp": "rs151332463",
"frequency_reference_population": 0.00058479287,
"hom_count_reference_population": 190,
"allele_count_reference_population": 705,
"gnomad_exomes_af": 0.00036414,
"gnomad_genomes_af": 0.00272724,
"gnomad_exomes_ac": 398,
"gnomad_genomes_ac": 307,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004410982131958008,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.217,
"revel_prediction": "Benign",
"alphamissense_score": 0.135,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.179,
"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": -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": "ENST00000674429.1",
"gene_symbol": "STS",
"hgnc_id": 11425,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1731C>G",
"hgvs_p": "p.Ser577Arg"
}
],
"clinvar_disease": "STS-related disorder,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "not provided|STS-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}