← 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: 3-27717711-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=27717711&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 27717711,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001278182.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"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": "EOMES",
"gene_hgnc_id": 3372,
"hgvs_c": "c.1477T>C",
"hgvs_p": "p.Ser493Pro",
"transcript": "NM_001278182.2",
"protein_id": "NP_001265111.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 705,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": "ENST00000449599.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "EOMES",
"gene_hgnc_id": 3372,
"hgvs_c": "c.1477T>C",
"hgvs_p": "p.Ser493Pro",
"transcript": "ENST00000449599.4",
"protein_id": "ENSP00000388620.1",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 705,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": "NM_001278182.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "EOMES",
"gene_hgnc_id": 3372,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Ser474Pro",
"transcript": "ENST00000295743.8",
"protein_id": "ENSP00000295743.4",
"transcript_support_level": 1,
"aa_start": 474,
"aa_end": null,
"aa_length": 686,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 3386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "EOMES",
"gene_hgnc_id": 3372,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Ser474Pro",
"transcript": "NM_005442.4",
"protein_id": "NP_005433.2",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 686,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "EOMES",
"gene_hgnc_id": 3372,
"hgvs_c": "c.592T>C",
"hgvs_p": "p.Ser198Pro",
"transcript": "NM_001278183.2",
"protein_id": "NP_001265112.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 410,
"cds_start": 592,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "EOMES",
"gene_hgnc_id": 3372,
"hgvs_c": "c.592T>C",
"hgvs_p": "p.Ser198Pro",
"transcript": "ENST00000461503.2",
"protein_id": "ENSP00000487112.1",
"transcript_support_level": 2,
"aa_start": 198,
"aa_end": null,
"aa_length": 410,
"cds_start": 592,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2080,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EOMES",
"gene_hgnc_id": 3372,
"hgvs_c": "c.1459+18T>C",
"hgvs_p": null,
"transcript": "XM_005265510.5",
"protein_id": "XP_005265567.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 515,
"cds_start": -4,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EOMES",
"gene_hgnc_id": 3372,
"dbsnp": "rs200817113",
"frequency_reference_population": 0.000014251299,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000109448,
"gnomad_genomes_af": 0.0000460496,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03368055820465088,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.232,
"revel_prediction": "Benign",
"alphamissense_score": 0.0959,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001278182.2",
"gene_symbol": "EOMES",
"hgnc_id": 3372,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1477T>C",
"hgvs_p": "p.Ser493Pro"
}
],
"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
}