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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: 2-28532154-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=28532154&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 28532154,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_153021.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLB1",
"gene_hgnc_id": 30041,
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"transcript": "NM_153021.5",
"protein_id": "NP_694566.4",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 1458,
"cds_start": 515,
"cds_end": null,
"cds_length": 4377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327757.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153021.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLB1",
"gene_hgnc_id": 30041,
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"transcript": "ENST00000327757.10",
"protein_id": "ENSP00000330442.5",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 1458,
"cds_start": 515,
"cds_end": null,
"cds_length": 4377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153021.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327757.10"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLB1",
"gene_hgnc_id": 30041,
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"transcript": "ENST00000422425.6",
"protein_id": "ENSP00000416440.2",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 1447,
"cds_start": 515,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422425.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLB1",
"gene_hgnc_id": 30041,
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Ser170Asn",
"transcript": "ENST00000404858.5",
"protein_id": "ENSP00000384187.1",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 1445,
"cds_start": 509,
"cds_end": null,
"cds_length": 4338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404858.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLB1",
"gene_hgnc_id": 30041,
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"transcript": "NM_001170585.2",
"protein_id": "NP_001164056.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 1447,
"cds_start": 515,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170585.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLB1",
"gene_hgnc_id": 30041,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Ser116Asn",
"transcript": "ENST00000416713.5",
"protein_id": "ENSP00000407076.1",
"transcript_support_level": 5,
"aa_start": 116,
"aa_end": null,
"aa_length": 182,
"cds_start": 347,
"cds_end": null,
"cds_length": 550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416713.5"
}
],
"gene_symbol": "PLB1",
"gene_hgnc_id": 30041,
"dbsnp": "rs746840393",
"frequency_reference_population": 0.00021571094,
"hom_count_reference_population": 0,
"allele_count_reference_population": 348,
"gnomad_exomes_af": 0.000223126,
"gnomad_genomes_af": 0.000144537,
"gnomad_exomes_ac": 326,
"gnomad_genomes_ac": 22,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.029353439807891846,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.119,
"revel_prediction": "Benign",
"alphamissense_score": 0.1689,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.232,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_153021.5",
"gene_symbol": "PLB1",
"hgnc_id": 30041,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn"
}
],
"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
}