← 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: 2-179945387-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=179945387&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 179945387,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020943.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC22",
"gene_hgnc_id": 29322,
"hgvs_c": "c.2469A>T",
"hgvs_p": "p.Arg823Ser",
"transcript": "NM_020943.3",
"protein_id": "NP_065994.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 908,
"cds_start": 2469,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000410053.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020943.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC22",
"gene_hgnc_id": 29322,
"hgvs_c": "c.2469A>T",
"hgvs_p": "p.Arg823Ser",
"transcript": "ENST00000410053.8",
"protein_id": "ENSP00000387006.3",
"transcript_support_level": 1,
"aa_start": 823,
"aa_end": null,
"aa_length": 908,
"cds_start": 2469,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020943.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410053.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC22",
"gene_hgnc_id": 29322,
"hgvs_c": "c.2469A>T",
"hgvs_p": "p.Arg823Ser",
"transcript": "NM_001376029.1",
"protein_id": "NP_001362958.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 908,
"cds_start": 2469,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376029.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC22",
"gene_hgnc_id": 29322,
"hgvs_c": "c.2469A>T",
"hgvs_p": "p.Arg823Ser",
"transcript": "NM_001376030.1",
"protein_id": "NP_001362959.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 908,
"cds_start": 2469,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376030.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC22",
"gene_hgnc_id": 29322,
"hgvs_c": "c.2469A>T",
"hgvs_p": "p.Arg823Ser",
"transcript": "ENST00000918074.1",
"protein_id": "ENSP00000588133.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 908,
"cds_start": 2469,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918074.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC22",
"gene_hgnc_id": 29322,
"hgvs_c": "c.2463A>T",
"hgvs_p": "p.Arg821Ser",
"transcript": "ENST00000910802.1",
"protein_id": "ENSP00000580861.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 906,
"cds_start": 2463,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910802.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC22",
"gene_hgnc_id": 29322,
"hgvs_c": "c.2406A>T",
"hgvs_p": "p.Arg802Ser",
"transcript": "ENST00000962033.1",
"protein_id": "ENSP00000632092.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 887,
"cds_start": 2406,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962033.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC22",
"gene_hgnc_id": 29322,
"hgvs_c": "c.2394A>T",
"hgvs_p": "p.Arg798Ser",
"transcript": "ENST00000910803.1",
"protein_id": "ENSP00000580862.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 883,
"cds_start": 2394,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910803.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC22",
"gene_hgnc_id": 29322,
"hgvs_c": "c.2346A>T",
"hgvs_p": "p.Arg782Ser",
"transcript": "NM_001376032.1",
"protein_id": "NP_001362961.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 867,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376032.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC22",
"gene_hgnc_id": 29322,
"hgvs_c": "c.*325A>T",
"hgvs_p": null,
"transcript": "NM_001376033.1",
"protein_id": "NP_001362962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": null,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376033.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWC22",
"gene_hgnc_id": 29322,
"hgvs_c": "c.*234A>T",
"hgvs_p": null,
"transcript": "ENST00000404136.2",
"protein_id": "ENSP00000384159.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 744,
"cds_start": null,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404136.2"
}
],
"gene_symbol": "CWC22",
"gene_hgnc_id": 29322,
"dbsnp": "rs1686265383",
"frequency_reference_population": 0.0000027384692,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273847,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08398276567459106,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": 0.258,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.035,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020943.3",
"gene_symbol": "CWC22",
"hgnc_id": 29322,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2469A>T",
"hgvs_p": "p.Arg823Ser"
}
],
"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
}