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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: 13-110719736-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=110719736&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 110719736,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005537.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING1",
"gene_hgnc_id": 6062,
"hgvs_c": "c.644G>C",
"hgvs_p": "p.Cys215Ser",
"transcript": "NM_198219.3",
"protein_id": "NP_937862.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 279,
"cds_start": 644,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000333219.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198219.3"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING1",
"gene_hgnc_id": 6062,
"hgvs_c": "c.644G>C",
"hgvs_p": "p.Cys215Ser",
"transcript": "ENST00000333219.9",
"protein_id": "ENSP00000328436.8",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 279,
"cds_start": 644,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198219.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333219.9"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING1",
"gene_hgnc_id": 6062,
"hgvs_c": "c.1073G>C",
"hgvs_p": "p.Cys358Ser",
"transcript": "ENST00000375774.3",
"protein_id": "ENSP00000364929.3",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 422,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375774.3"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING1",
"gene_hgnc_id": 6062,
"hgvs_c": "c.512G>C",
"hgvs_p": "p.Cys171Ser",
"transcript": "ENST00000338450.7",
"protein_id": "ENSP00000345202.7",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 235,
"cds_start": 512,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338450.7"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING1",
"gene_hgnc_id": 6062,
"hgvs_c": "c.437G>C",
"hgvs_p": "p.Cys146Ser",
"transcript": "ENST00000375775.4",
"protein_id": "ENSP00000364930.3",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 210,
"cds_start": 437,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375775.4"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING1",
"gene_hgnc_id": 6062,
"hgvs_c": "c.1073G>C",
"hgvs_p": "p.Cys358Ser",
"transcript": "NM_005537.5",
"protein_id": "NP_005528.4",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 422,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005537.5"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING1",
"gene_hgnc_id": 6062,
"hgvs_c": "c.644G>C",
"hgvs_p": "p.Cys215Ser",
"transcript": "ENST00000715208.1",
"protein_id": "ENSP00000520415.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 279,
"cds_start": 644,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715208.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING1",
"gene_hgnc_id": 6062,
"hgvs_c": "c.593G>C",
"hgvs_p": "p.Cys198Ser",
"transcript": "NM_001267728.1",
"protein_id": "NP_001254657.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 262,
"cds_start": 593,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267728.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING1",
"gene_hgnc_id": 6062,
"hgvs_c": "c.512G>C",
"hgvs_p": "p.Cys171Ser",
"transcript": "NM_198217.3",
"protein_id": "NP_937860.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 235,
"cds_start": 512,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198217.3"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ING1",
"gene_hgnc_id": 6062,
"hgvs_c": "c.437G>C",
"hgvs_p": "p.Cys146Ser",
"transcript": "NM_198218.3",
"protein_id": "NP_937861.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 210,
"cds_start": 437,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198218.3"
}
],
"gene_symbol": "ING1",
"gene_hgnc_id": 6062,
"dbsnp": "rs121909250",
"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": 0.9910528063774109,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.953,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9999,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.61,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.353,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005537.5",
"gene_symbol": "ING1",
"hgnc_id": 6062,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1073G>C",
"hgvs_p": "p.Cys358Ser"
}
],
"clinvar_disease": "Squamous cell carcinoma of the head and neck",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Squamous cell carcinoma of the head and neck",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}