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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: 1-160876732-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160876732&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 160876732,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_017625.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITLN1",
"gene_hgnc_id": 18259,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Gly292Arg",
"transcript": "NM_017625.3",
"protein_id": "NP_060095.2",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 313,
"cds_start": 874,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326245.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017625.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITLN1",
"gene_hgnc_id": 18259,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Gly292Arg",
"transcript": "ENST00000326245.4",
"protein_id": "ENSP00000323587.3",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 313,
"cds_start": 874,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017625.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326245.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITLN1",
"gene_hgnc_id": 18259,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Gly292Arg",
"transcript": "ENST00000896872.1",
"protein_id": "ENSP00000566931.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 313,
"cds_start": 874,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896872.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITLN1",
"gene_hgnc_id": 18259,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Gly292Arg",
"transcript": "ENST00000896873.1",
"protein_id": "ENSP00000566932.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 313,
"cds_start": 874,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896873.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITLN1",
"gene_hgnc_id": 18259,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Gly292Arg",
"transcript": "ENST00000896874.1",
"protein_id": "ENSP00000566933.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 313,
"cds_start": 874,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896874.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITLN1",
"gene_hgnc_id": 18259,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Gly292Arg",
"transcript": "ENST00000896875.1",
"protein_id": "ENSP00000566934.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 313,
"cds_start": 874,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896875.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITLN1",
"gene_hgnc_id": 18259,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Gly292Arg",
"transcript": "ENST00000960625.1",
"protein_id": "ENSP00000630684.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 313,
"cds_start": 874,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960625.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITLN1",
"gene_hgnc_id": 18259,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Gly292Arg",
"transcript": "ENST00000960626.1",
"protein_id": "ENSP00000630685.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 313,
"cds_start": 874,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960626.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITLN1",
"gene_hgnc_id": 18259,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Gly292Arg",
"transcript": "ENST00000960627.1",
"protein_id": "ENSP00000630686.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 313,
"cds_start": 874,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960627.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITLN1",
"gene_hgnc_id": 18259,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Gly292Arg",
"transcript": "ENST00000960628.1",
"protein_id": "ENSP00000630687.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 313,
"cds_start": 874,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960628.1"
}
],
"gene_symbol": "ITLN1",
"gene_hgnc_id": 18259,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4936178922653198,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.269,
"revel_prediction": "Benign",
"alphamissense_score": 0.5766,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.51,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017625.3",
"gene_symbol": "ITLN1",
"hgnc_id": 18259,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Gly292Arg"
}
],
"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
}