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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: 15-48332391-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=48332391&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 48332391,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001025248.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUT",
"gene_hgnc_id": 3078,
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Gly135Ala",
"transcript": "NM_001025248.2",
"protein_id": "NP_001020419.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 252,
"cds_start": 404,
"cds_end": null,
"cds_length": 759,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": "ENST00000331200.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUT",
"gene_hgnc_id": 3078,
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Gly135Ala",
"transcript": "ENST00000331200.8",
"protein_id": "ENSP00000370376.2",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 252,
"cds_start": 404,
"cds_end": null,
"cds_length": 759,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": "NM_001025248.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUT",
"gene_hgnc_id": 3078,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Gly47Ala",
"transcript": "ENST00000455976.6",
"protein_id": "ENSP00000405160.2",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 164,
"cds_start": 140,
"cds_end": null,
"cds_length": 495,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUT",
"gene_hgnc_id": 3078,
"hgvs_c": "c.335G>C",
"hgvs_p": "p.Gly112Ala",
"transcript": "ENST00000558472.5",
"protein_id": "ENSP00000452749.1",
"transcript_support_level": 3,
"aa_start": 112,
"aa_end": null,
"aa_length": 220,
"cds_start": 335,
"cds_end": null,
"cds_length": 664,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUT",
"gene_hgnc_id": 3078,
"hgvs_c": "c.149G>C",
"hgvs_p": "p.Gly50Ala",
"transcript": "NM_001330286.2",
"protein_id": "NP_001317215.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 167,
"cds_start": 149,
"cds_end": null,
"cds_length": 504,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUT",
"gene_hgnc_id": 3078,
"hgvs_c": "c.149G>C",
"hgvs_p": "p.Gly50Ala",
"transcript": "ENST00000559416.5",
"protein_id": "ENSP00000454183.1",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 167,
"cds_start": 149,
"cds_end": null,
"cds_length": 504,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUT",
"gene_hgnc_id": 3078,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Gly47Ala",
"transcript": "NM_001948.4",
"protein_id": "NP_001939.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 164,
"cds_start": 140,
"cds_end": null,
"cds_length": 495,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUT",
"gene_hgnc_id": 3078,
"hgvs_c": "c.140G>C",
"hgvs_p": "p.Gly47Ala",
"transcript": "ENST00000559540.5",
"protein_id": "ENSP00000454041.1",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 143,
"cds_start": 140,
"cds_end": null,
"cds_length": 432,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 1441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUT",
"gene_hgnc_id": 3078,
"hgvs_c": "c.71G>C",
"hgvs_p": "p.Gly24Ala",
"transcript": "NM_001025249.1",
"protein_id": "NP_001020420.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 141,
"cds_start": 71,
"cds_end": null,
"cds_length": 426,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUT",
"gene_hgnc_id": 3078,
"hgvs_c": "c.71G>C",
"hgvs_p": "p.Gly24Ala",
"transcript": "ENST00000558813.5",
"protein_id": "ENSP00000453717.1",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 141,
"cds_start": 71,
"cds_end": null,
"cds_length": 426,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUT",
"gene_hgnc_id": 3078,
"hgvs_c": "c.149G>C",
"hgvs_p": "p.Gly50Ala",
"transcript": "ENST00000559935.5",
"protein_id": "ENSP00000453667.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 133,
"cds_start": 149,
"cds_end": null,
"cds_length": 402,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 569,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUT",
"gene_hgnc_id": 3078,
"hgvs_c": "n.404G>C",
"hgvs_p": null,
"transcript": "ENST00000558978.5",
"protein_id": "ENSP00000452814.1",
"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": 1171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUT",
"gene_hgnc_id": 3078,
"hgvs_c": "c.-321G>C",
"hgvs_p": null,
"transcript": "ENST00000558367.1",
"protein_id": "ENSP00000453683.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 106,
"cds_start": -4,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DUT",
"gene_hgnc_id": 3078,
"dbsnp": null,
"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": 0.9612006545066833,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.665,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8805,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.242,
"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": 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_001025248.2",
"gene_symbol": "DUT",
"hgnc_id": 3078,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Gly135Ala"
}
],
"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
}