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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: 19-49871686-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49871686&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49871686,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001098633.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.488G>C",
"hgvs_p": "p.Gly163Ala",
"transcript": "NM_001098633.4",
"protein_id": "NP_001092103.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 256,
"cds_start": 488,
"cds_end": null,
"cds_length": 771,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": "ENST00000344175.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.488G>C",
"hgvs_p": "p.Gly163Ala",
"transcript": "ENST00000344175.10",
"protein_id": "ENSP00000341698.5",
"transcript_support_level": 3,
"aa_start": 163,
"aa_end": null,
"aa_length": 256,
"cds_start": 488,
"cds_end": null,
"cds_length": 771,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": "NM_001098633.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.548G>C",
"hgvs_p": "p.Gly183Ala",
"transcript": "ENST00000391835.1",
"protein_id": "ENSP00000375711.1",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 276,
"cds_start": 548,
"cds_end": null,
"cds_length": 831,
"cdna_start": 1921,
"cdna_end": null,
"cdna_length": 3075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.488G>C",
"hgvs_p": "p.Gly163Ala",
"transcript": "ENST00000391832.7",
"protein_id": "ENSP00000375708.3",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 256,
"cds_start": 488,
"cds_end": null,
"cds_length": 771,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.548G>C",
"hgvs_p": "p.Gly183Ala",
"transcript": "NM_032375.5",
"protein_id": "NP_115751.3",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 276,
"cds_start": 548,
"cds_end": null,
"cds_length": 831,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.488G>C",
"hgvs_p": "p.Gly163Ala",
"transcript": "NM_001098632.2",
"protein_id": "NP_001092102.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 256,
"cds_start": 488,
"cds_end": null,
"cds_length": 771,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.488G>C",
"hgvs_p": "p.Gly163Ala",
"transcript": "NM_001278159.2",
"protein_id": "NP_001265088.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 256,
"cds_start": 488,
"cds_end": null,
"cds_length": 771,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.488G>C",
"hgvs_p": "p.Gly163Ala",
"transcript": "NM_001278160.2",
"protein_id": "NP_001265089.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 256,
"cds_start": 488,
"cds_end": null,
"cds_length": 771,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.488G>C",
"hgvs_p": "p.Gly163Ala",
"transcript": "ENST00000391831.5",
"protein_id": "ENSP00000375707.1",
"transcript_support_level": 2,
"aa_start": 163,
"aa_end": null,
"aa_length": 256,
"cds_start": 488,
"cds_end": null,
"cds_length": 771,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.488G>C",
"hgvs_p": "p.Gly163Ala",
"transcript": "ENST00000391833.5",
"protein_id": "ENSP00000375709.1",
"transcript_support_level": 2,
"aa_start": 163,
"aa_end": null,
"aa_length": 256,
"cds_start": 488,
"cds_end": null,
"cds_length": 771,
"cdna_start": 2478,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.488G>C",
"hgvs_p": "p.Gly163Ala",
"transcript": "ENST00000391834.6",
"protein_id": "ENSP00000375710.2",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 256,
"cds_start": 488,
"cds_end": null,
"cds_length": 771,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "n.182+6484G>C",
"hgvs_p": null,
"transcript": "ENST00000629179.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"dbsnp": "rs754890149",
"frequency_reference_population": 0.0000031003522,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273854,
"gnomad_genomes_af": 0.00000657505,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1735226809978485,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.092,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.843,
"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_001098633.4",
"gene_symbol": "AKT1S1",
"hgnc_id": 28426,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.488G>C",
"hgvs_p": "p.Gly163Ala"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000629179.1",
"gene_symbol": "PNKP",
"hgnc_id": 9154,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "n.182+6484G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}