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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: 17-40482189-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40482189&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 40482189,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032865.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS4",
"gene_hgnc_id": 24352,
"hgvs_c": "c.1612G>C",
"hgvs_p": "p.Val538Leu",
"transcript": "NM_032865.6",
"protein_id": "NP_116254.4",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 715,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000254051.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032865.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS4",
"gene_hgnc_id": 24352,
"hgvs_c": "c.1612G>C",
"hgvs_p": "p.Val538Leu",
"transcript": "ENST00000254051.11",
"protein_id": "ENSP00000254051.6",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 715,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032865.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254051.11"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS4",
"gene_hgnc_id": 24352,
"hgvs_c": "c.1609G>C",
"hgvs_p": "p.Val537Leu",
"transcript": "ENST00000876606.1",
"protein_id": "ENSP00000546665.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 714,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876606.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS4",
"gene_hgnc_id": 24352,
"hgvs_c": "c.1612G>C",
"hgvs_p": "p.Val538Leu",
"transcript": "XM_047436949.1",
"protein_id": "XP_047292905.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 827,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436949.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS4",
"gene_hgnc_id": 24352,
"hgvs_c": "c.1609G>C",
"hgvs_p": "p.Val537Leu",
"transcript": "XM_005257744.2",
"protein_id": "XP_005257801.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 714,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257744.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS4",
"gene_hgnc_id": 24352,
"hgvs_c": "c.1612G>C",
"hgvs_p": "p.Val538Leu",
"transcript": "XM_017025237.2",
"protein_id": "XP_016880726.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 672,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025237.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNS4",
"gene_hgnc_id": 24352,
"hgvs_c": "c.1612G>C",
"hgvs_p": "p.Val538Leu",
"transcript": "XM_047436950.1",
"protein_id": "XP_047292906.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 597,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436950.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TNS4",
"gene_hgnc_id": 24352,
"hgvs_c": "c.1594+135G>C",
"hgvs_p": null,
"transcript": "XM_017025236.2",
"protein_id": "XP_016880725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 689,
"cds_start": null,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025236.2"
}
],
"gene_symbol": "TNS4",
"gene_hgnc_id": 24352,
"dbsnp": "rs201890192",
"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": 0.8696805238723755,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.722,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8433,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.867,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032865.6",
"gene_symbol": "TNS4",
"hgnc_id": 24352,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1612G>C",
"hgvs_p": "p.Val538Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}