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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: 1-201386497-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=201386497&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 201386497,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_005558.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAD1",
"gene_hgnc_id": 6472,
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Glu288Glu",
"transcript": "NM_005558.4",
"protein_id": "NP_005549.2",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 517,
"cds_start": 864,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000391967.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005558.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAD1",
"gene_hgnc_id": 6472,
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Glu288Glu",
"transcript": "ENST00000391967.7",
"protein_id": "ENSP00000375829.2",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 517,
"cds_start": 864,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005558.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391967.7"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAD1",
"gene_hgnc_id": 6472,
"hgvs_c": "c.906G>A",
"hgvs_p": "p.Glu302Glu",
"transcript": "ENST00000367313.4",
"protein_id": "ENSP00000356282.3",
"transcript_support_level": 1,
"aa_start": 302,
"aa_end": null,
"aa_length": 531,
"cds_start": 906,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367313.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAD1",
"gene_hgnc_id": 6472,
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Glu288Glu",
"transcript": "ENST00000909141.1",
"protein_id": "ENSP00000579200.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 541,
"cds_start": 864,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909141.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAD1",
"gene_hgnc_id": 6472,
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Glu288Glu",
"transcript": "ENST00000909142.1",
"protein_id": "ENSP00000579201.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 528,
"cds_start": 864,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909142.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAD1",
"gene_hgnc_id": 6472,
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Glu288Glu",
"transcript": "ENST00000909140.1",
"protein_id": "ENSP00000579199.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 522,
"cds_start": 864,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909140.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAD1",
"gene_hgnc_id": 6472,
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Glu288Glu",
"transcript": "ENST00000942862.1",
"protein_id": "ENSP00000612921.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 516,
"cds_start": 864,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942862.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAD1",
"gene_hgnc_id": 6472,
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Glu288Glu",
"transcript": "ENST00000909138.1",
"protein_id": "ENSP00000579197.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 482,
"cds_start": 864,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909138.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAD1",
"gene_hgnc_id": 6472,
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Glu288Glu",
"transcript": "ENST00000909137.1",
"protein_id": "ENSP00000579196.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 471,
"cds_start": 864,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909137.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAD1",
"gene_hgnc_id": 6472,
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Glu240Glu",
"transcript": "ENST00000909143.1",
"protein_id": "ENSP00000579202.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 469,
"cds_start": 720,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909143.1"
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LAD1",
"gene_hgnc_id": 6472,
"hgvs_c": "c.615+249G>A",
"hgvs_p": null,
"transcript": "ENST00000909139.1",
"protein_id": "ENSP00000579198.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": null,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909139.1"
}
],
"gene_symbol": "LAD1",
"gene_hgnc_id": 6472,
"dbsnp": "rs73076696",
"frequency_reference_population": 0.0012010144,
"hom_count_reference_population": 16,
"allele_count_reference_population": 1900,
"gnomad_exomes_af": 0.000621115,
"gnomad_genomes_af": 0.00664434,
"gnomad_exomes_ac": 888,
"gnomad_genomes_ac": 1012,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7200000286102295,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.142,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005558.4",
"gene_symbol": "LAD1",
"hgnc_id": 6472,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Glu288Glu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}