← 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: 5-149995055-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=149995055&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 149995055,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_030953.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIGD6",
"gene_hgnc_id": 18332,
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Asp432Asn",
"transcript": "NM_030953.4",
"protein_id": "NP_112215.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 521,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296736.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030953.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIGD6",
"gene_hgnc_id": 18332,
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Asp432Asn",
"transcript": "ENST00000296736.4",
"protein_id": "ENSP00000296736.3",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 521,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030953.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296736.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIGD6",
"gene_hgnc_id": 18332,
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Asp432Asn",
"transcript": "ENST00000515406.2",
"protein_id": "ENSP00000425318.2",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 521,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515406.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIGD6",
"gene_hgnc_id": 18332,
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Asp432Asn",
"transcript": "NM_001243253.2",
"protein_id": "NP_001230182.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 521,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243253.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIGD6",
"gene_hgnc_id": 18332,
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Asp432Asn",
"transcript": "NM_001412172.1",
"protein_id": "NP_001399101.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 521,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412172.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIGD6",
"gene_hgnc_id": 18332,
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Asp432Asn",
"transcript": "ENST00000893998.1",
"protein_id": "ENSP00000564057.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 521,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893998.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIGD6",
"gene_hgnc_id": 18332,
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Asp432Asn",
"transcript": "ENST00000915769.1",
"protein_id": "ENSP00000585828.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 521,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915769.1"
}
],
"gene_symbol": "TIGD6",
"gene_hgnc_id": 18332,
"dbsnp": "rs1158485417",
"frequency_reference_population": 0.00002602111,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000273618,
"gnomad_genomes_af": 0.000013142,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08343690633773804,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
"alphamissense_score": 0.1084,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.274,
"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_030953.4",
"gene_symbol": "TIGD6",
"hgnc_id": 18332,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Asp432Asn"
}
],
"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
}