← 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: 3-158106011-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=158106011&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 158106011,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001163678.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOX2",
"gene_hgnc_id": 10854,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Thr5Arg",
"transcript": "NM_001163678.2",
"protein_id": "NP_001157150.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 319,
"cds_start": 14,
"cds_end": null,
"cds_length": 960,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 3478,
"mane_select": "ENST00000483851.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOX2",
"gene_hgnc_id": 10854,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Thr5Arg",
"transcript": "ENST00000483851.7",
"protein_id": "ENSP00000419362.1",
"transcript_support_level": 2,
"aa_start": 5,
"aa_end": null,
"aa_length": 319,
"cds_start": 14,
"cds_end": null,
"cds_length": 960,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 3478,
"mane_select": "NM_001163678.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOX2",
"gene_hgnc_id": 10854,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Thr5Arg",
"transcript": "ENST00000389589.8",
"protein_id": "ENSP00000374240.4",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 355,
"cds_start": 14,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOX2",
"gene_hgnc_id": 10854,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Thr5Arg",
"transcript": "NM_003030.4",
"protein_id": "NP_003021.3",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 355,
"cds_start": 14,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOX2",
"gene_hgnc_id": 10854,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Thr5Arg",
"transcript": "NM_006884.3",
"protein_id": "NP_006875.2",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 331,
"cds_start": 14,
"cds_end": null,
"cds_length": 996,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOX2",
"gene_hgnc_id": 10854,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Thr5Arg",
"transcript": "ENST00000441443.6",
"protein_id": "ENSP00000397099.3",
"transcript_support_level": 5,
"aa_start": 5,
"aa_end": null,
"aa_length": 331,
"cds_start": 14,
"cds_end": null,
"cds_length": 996,
"cdna_start": 40,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOX2",
"gene_hgnc_id": 10854,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Thr5Arg",
"transcript": "XM_006713727.4",
"protein_id": "XP_006713790.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 343,
"cds_start": 14,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.-3+1G>C",
"hgvs_p": null,
"transcript": "ENST00000480820.5",
"protein_id": "ENSP00000420150.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SHOX2",
"gene_hgnc_id": 10854,
"dbsnp": "rs1713904347",
"frequency_reference_population": 6.8463044e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8463e-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": 0.8844727277755737,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7300000190734863,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.722,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9406,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.342,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.73,
"spliceai_max_prediction": "Pathogenic",
"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_001163678.2",
"gene_symbol": "SHOX2",
"hgnc_id": 10854,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Thr5Arg"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Strong",
"PM2"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000480820.5",
"gene_symbol": "RSRC1",
"hgnc_id": 24152,
"effects": [
"splice_donor_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-3+1G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}