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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: 19-1207140-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1207140&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1207140,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000326873.12",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11",
"gene_hgnc_id": 11389,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Asp",
"transcript": "NM_000455.5",
"protein_id": "NP_000446.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 433,
"cds_start": 227,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": "ENST00000326873.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11",
"gene_hgnc_id": 11389,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Asp",
"transcript": "ENST00000326873.12",
"protein_id": "ENSP00000324856.6",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 433,
"cds_start": 227,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": "NM_000455.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11",
"gene_hgnc_id": 11389,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Asp",
"transcript": "ENST00000652231.1",
"protein_id": "ENSP00000498804.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 404,
"cds_start": 227,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11",
"gene_hgnc_id": 11389,
"hgvs_c": "n.227C>A",
"hgvs_p": null,
"transcript": "ENST00000593219.6",
"protein_id": "ENSP00000466610.1",
"transcript_support_level": 3,
"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": 2386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STK11",
"gene_hgnc_id": 11389,
"hgvs_c": "c.-82-11277C>A",
"hgvs_p": null,
"transcript": "ENST00000585748.3",
"protein_id": "ENSP00000477641.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 309,
"cds_start": -4,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11",
"gene_hgnc_id": 11389,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Asp",
"transcript": "ENST00000714323.1",
"protein_id": "ENSP00000519600.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 600,
"cds_start": 227,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11",
"gene_hgnc_id": 11389,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Asp",
"transcript": "ENST00000714322.1",
"protein_id": "ENSP00000519599.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 419,
"cds_start": 227,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 3248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11",
"gene_hgnc_id": 11389,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Asp",
"transcript": "NM_001407255.1",
"protein_id": "NP_001394184.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 404,
"cds_start": 227,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11",
"gene_hgnc_id": 11389,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Asp",
"transcript": "ENST00000585465.3",
"protein_id": "ENSP00000490268.2",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 404,
"cds_start": 227,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 5773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11",
"gene_hgnc_id": 11389,
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Asp",
"transcript": "ENST00000585851.2",
"protein_id": "ENSP00000467912.2",
"transcript_support_level": 3,
"aa_start": 76,
"aa_end": null,
"aa_length": 375,
"cds_start": 227,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11",
"gene_hgnc_id": 11389,
"hgvs_c": "n.50C>A",
"hgvs_p": null,
"transcript": "ENST00000586358.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11",
"gene_hgnc_id": 11389,
"hgvs_c": "n.317C>A",
"hgvs_p": null,
"transcript": "ENST00000589152.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11",
"gene_hgnc_id": 11389,
"hgvs_c": "n.227C>A",
"hgvs_p": null,
"transcript": "ENST00000714318.1",
"protein_id": "ENSP00000519595.1",
"transcript_support_level": null,
"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": 3484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11",
"gene_hgnc_id": 11389,
"hgvs_c": "n.227C>A",
"hgvs_p": null,
"transcript": "ENST00000714319.1",
"protein_id": "ENSP00000519596.1",
"transcript_support_level": null,
"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": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11",
"gene_hgnc_id": 11389,
"hgvs_c": "n.227C>A",
"hgvs_p": null,
"transcript": "ENST00000714320.1",
"protein_id": "ENSP00000519597.1",
"transcript_support_level": null,
"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": 3449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11",
"gene_hgnc_id": 11389,
"hgvs_c": "n.227C>A",
"hgvs_p": null,
"transcript": "ENST00000714321.1",
"protein_id": "ENSP00000519598.1",
"transcript_support_level": null,
"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": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK11",
"gene_hgnc_id": 11389,
"hgvs_c": "n.1363C>A",
"hgvs_p": null,
"transcript": "NR_176325.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STK11",
"gene_hgnc_id": 11389,
"dbsnp": "rs773422811",
"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": 0.9864584803581238,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.96,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.53,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.636,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000326873.12",
"gene_symbol": "STK11",
"hgnc_id": 11389,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.227C>A",
"hgvs_p": "p.Ala76Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}