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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: 22-41572092-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41572092&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41572092,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_014460.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDC2",
"gene_hgnc_id": 30359,
"hgvs_c": "c.127C>A",
"hgvs_p": "p.Arg43Arg",
"transcript": "NM_014460.4",
"protein_id": "NP_055275.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 153,
"cds_start": 127,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306149.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014460.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDC2",
"gene_hgnc_id": 30359,
"hgvs_c": "c.127C>A",
"hgvs_p": "p.Arg43Arg",
"transcript": "ENST00000306149.12",
"protein_id": "ENSP00000302485.7",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 153,
"cds_start": 127,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014460.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306149.12"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDC2",
"gene_hgnc_id": 30359,
"hgvs_c": "c.127C>A",
"hgvs_p": "p.Arg43Arg",
"transcript": "ENST00000901851.1",
"protein_id": "ENSP00000571910.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 153,
"cds_start": 127,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901851.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDC2",
"gene_hgnc_id": 30359,
"hgvs_c": "c.127C>A",
"hgvs_p": "p.Arg43Arg",
"transcript": "ENST00000901852.1",
"protein_id": "ENSP00000571911.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 153,
"cds_start": 127,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901852.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDC2",
"gene_hgnc_id": 30359,
"hgvs_c": "c.127C>A",
"hgvs_p": "p.Arg43Arg",
"transcript": "ENST00000901853.1",
"protein_id": "ENSP00000571912.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 153,
"cds_start": 127,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901853.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDC2",
"gene_hgnc_id": 30359,
"hgvs_c": "c.127C>A",
"hgvs_p": "p.Arg43Arg",
"transcript": "ENST00000949647.1",
"protein_id": "ENSP00000619706.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 153,
"cds_start": 127,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949647.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDC2",
"gene_hgnc_id": 30359,
"hgvs_c": "c.127C>A",
"hgvs_p": "p.Arg43Arg",
"transcript": "ENST00000949648.1",
"protein_id": "ENSP00000619707.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 153,
"cds_start": 127,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949648.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDC2",
"gene_hgnc_id": 30359,
"hgvs_c": "c.127C>A",
"hgvs_p": "p.Arg43Arg",
"transcript": "ENST00000949649.1",
"protein_id": "ENSP00000619708.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 153,
"cds_start": 127,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949649.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDC2",
"gene_hgnc_id": 30359,
"hgvs_c": "c.127C>A",
"hgvs_p": "p.Arg43Arg",
"transcript": "ENST00000949650.1",
"protein_id": "ENSP00000619709.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 153,
"cds_start": 127,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949650.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDC2",
"gene_hgnc_id": 30359,
"hgvs_c": "c.127C>A",
"hgvs_p": "p.Arg43Arg",
"transcript": "ENST00000949651.1",
"protein_id": "ENSP00000619710.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 153,
"cds_start": 127,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949651.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDC2",
"gene_hgnc_id": 30359,
"hgvs_c": "c.76C>A",
"hgvs_p": "p.Arg26Arg",
"transcript": "ENST00000460790.1",
"protein_id": "ENSP00000417127.1",
"transcript_support_level": 3,
"aa_start": 26,
"aa_end": null,
"aa_length": 151,
"cds_start": 76,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460790.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSDC2",
"gene_hgnc_id": 30359,
"hgvs_c": "c.127C>A",
"hgvs_p": "p.Arg43Arg",
"transcript": "ENST00000901850.1",
"protein_id": "ENSP00000571909.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 112,
"cds_start": 127,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901850.1"
}
],
"gene_symbol": "CSDC2",
"gene_hgnc_id": 30359,
"dbsnp": "rs372792554",
"frequency_reference_population": 0.0000016578881,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000165789,
"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": -0.5199999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.62,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_014460.4",
"gene_symbol": "CSDC2",
"hgnc_id": 30359,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.127C>A",
"hgvs_p": "p.Arg43Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}