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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: 15-51953258-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=51953258&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 51953258,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001323903.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEO1",
"gene_hgnc_id": 30401,
"hgvs_c": "c.1346C>T",
"hgvs_p": "p.Ser449Phe",
"transcript": "NM_138792.4",
"protein_id": "NP_620147.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 666,
"cds_start": 1346,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299601.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138792.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEO1",
"gene_hgnc_id": 30401,
"hgvs_c": "c.1346C>T",
"hgvs_p": "p.Ser449Phe",
"transcript": "ENST00000299601.10",
"protein_id": "ENSP00000299601.5",
"transcript_support_level": 1,
"aa_start": 449,
"aa_end": null,
"aa_length": 666,
"cds_start": 1346,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138792.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299601.10"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "LEO1",
"gene_hgnc_id": 30401,
"hgvs_c": "c.1346C>T",
"hgvs_p": "p.Ser449Phe",
"transcript": "NM_001323903.2",
"protein_id": "NP_001310832.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 688,
"cds_start": 1346,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323903.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEO1",
"gene_hgnc_id": 30401,
"hgvs_c": "c.1346C>T",
"hgvs_p": "p.Ser449Phe",
"transcript": "NM_001426597.1",
"protein_id": "NP_001413526.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 667,
"cds_start": 1346,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001426597.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEO1",
"gene_hgnc_id": 30401,
"hgvs_c": "c.1346C>T",
"hgvs_p": "p.Ser449Phe",
"transcript": "NM_001323904.2",
"protein_id": "NP_001310833.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 654,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323904.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEO1",
"gene_hgnc_id": 30401,
"hgvs_c": "c.1346C>T",
"hgvs_p": "p.Ser449Phe",
"transcript": "NM_001426598.1",
"protein_id": "NP_001413527.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 642,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001426598.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEO1",
"gene_hgnc_id": 30401,
"hgvs_c": "c.1241C>T",
"hgvs_p": "p.Ser414Phe",
"transcript": "ENST00000924051.1",
"protein_id": "ENSP00000594110.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 631,
"cds_start": 1241,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924051.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEO1",
"gene_hgnc_id": 30401,
"hgvs_c": "c.1166C>T",
"hgvs_p": "p.Ser389Phe",
"transcript": "NM_001286430.2",
"protein_id": "NP_001273359.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 606,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286430.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEO1",
"gene_hgnc_id": 30401,
"hgvs_c": "c.1166C>T",
"hgvs_p": "p.Ser389Phe",
"transcript": "ENST00000315141.5",
"protein_id": "ENSP00000314610.5",
"transcript_support_level": 2,
"aa_start": 389,
"aa_end": null,
"aa_length": 606,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315141.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEO1",
"gene_hgnc_id": 30401,
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Ser197Phe",
"transcript": "ENST00000971766.1",
"protein_id": "ENSP00000641825.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 414,
"cds_start": 590,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971766.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LEO1",
"gene_hgnc_id": 30401,
"hgvs_c": "c.815-1332C>T",
"hgvs_p": null,
"transcript": "ENST00000924052.1",
"protein_id": "ENSP00000594111.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": null,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924052.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEO1",
"gene_hgnc_id": 30401,
"hgvs_c": "n.587C>T",
"hgvs_p": null,
"transcript": "ENST00000558949.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000558949.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAPK6",
"gene_hgnc_id": 6879,
"hgvs_c": "n.178+975G>A",
"hgvs_p": null,
"transcript": "ENST00000560802.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000560802.1"
}
],
"gene_symbol": "LEO1",
"gene_hgnc_id": 30401,
"dbsnp": "rs2056963190",
"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": 0.9534198045730591,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.788,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9996,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.49,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.526,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001323903.2",
"gene_symbol": "LEO1",
"hgnc_id": 30401,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1346C>T",
"hgvs_p": "p.Ser449Phe"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000560802.1",
"gene_symbol": "MAPK6",
"hgnc_id": 6879,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.178+975G>A",
"hgvs_p": null
}
],
"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
}