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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: 22-24868450-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=24868450&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 24868450,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000400358.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM1",
"gene_hgnc_id": 29410,
"hgvs_c": "c.1069G>C",
"hgvs_p": "p.Gly357Arg",
"transcript": "NM_001098497.3",
"protein_id": "NP_001091967.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 1093,
"cds_start": 1069,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 6701,
"mane_select": "ENST00000400358.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM1",
"gene_hgnc_id": 29410,
"hgvs_c": "c.1069G>C",
"hgvs_p": "p.Gly357Arg",
"transcript": "ENST00000400358.9",
"protein_id": "ENSP00000383211.4",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 1093,
"cds_start": 1069,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 6701,
"mane_select": "NM_001098497.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM1",
"gene_hgnc_id": 29410,
"hgvs_c": "c.1069G>C",
"hgvs_p": "p.Gly357Arg",
"transcript": "NM_001039948.4",
"protein_id": "NP_001035037.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1069,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 6866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM1",
"gene_hgnc_id": 29410,
"hgvs_c": "c.1069G>C",
"hgvs_p": "p.Gly357Arg",
"transcript": "ENST00000400359.4",
"protein_id": "ENSP00000383212.4",
"transcript_support_level": 5,
"aa_start": 357,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1069,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 4317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM1",
"gene_hgnc_id": 29410,
"hgvs_c": "c.1069G>C",
"hgvs_p": "p.Gly357Arg",
"transcript": "NM_133454.4",
"protein_id": "NP_597711.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 1087,
"cds_start": 1069,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 6683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM1",
"gene_hgnc_id": 29410,
"hgvs_c": "c.1069G>C",
"hgvs_p": "p.Gly357Arg",
"transcript": "ENST00000610372.4",
"protein_id": "ENSP00000484682.1",
"transcript_support_level": 5,
"aa_start": 357,
"aa_end": null,
"aa_length": 1087,
"cds_start": 1069,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 5991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM1",
"gene_hgnc_id": 29410,
"hgvs_c": "c.1069G>C",
"hgvs_p": "p.Gly357Arg",
"transcript": "NM_001098498.3",
"protein_id": "NP_001091968.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 1032,
"cds_start": 1069,
"cds_end": null,
"cds_length": 3099,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 6518,
"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": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM1",
"gene_hgnc_id": 29410,
"hgvs_c": "n.2443G>C",
"hgvs_p": null,
"transcript": "ENST00000473458.5",
"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": 5336,
"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": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSM1",
"gene_hgnc_id": 29410,
"hgvs_c": "n.1162G>C",
"hgvs_p": null,
"transcript": "ENST00000480523.1",
"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": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SGSM1",
"gene_hgnc_id": 29410,
"dbsnp": "rs953221485",
"frequency_reference_population": 0.0000013683091,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136831,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8309824466705322,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.604,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9905,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.353,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.15,
"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": "ENST00000400358.9",
"gene_symbol": "SGSM1",
"hgnc_id": 29410,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1069G>C",
"hgvs_p": "p.Gly357Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}