← Back to variant description
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: 18-63720078-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=63720078&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 63720078,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000544088.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB11",
"gene_hgnc_id": 14221,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Ala181Thr",
"transcript": "NM_001370475.1",
"protein_id": "NP_001357404.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 392,
"cds_start": 541,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": "ENST00000544088.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB11",
"gene_hgnc_id": 14221,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Ala181Thr",
"transcript": "ENST00000544088.6",
"protein_id": "ENSP00000441497.1",
"transcript_support_level": 2,
"aa_start": 181,
"aa_end": null,
"aa_length": 392,
"cds_start": 541,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": "NM_001370475.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB11",
"gene_hgnc_id": 14221,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Ala181Thr",
"transcript": "ENST00000382749.9",
"protein_id": "ENSP00000421854.1",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 392,
"cds_start": 541,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 1918,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB11",
"gene_hgnc_id": 14221,
"hgvs_c": "n.689G>A",
"hgvs_p": null,
"transcript": "ENST00000467649.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 1116,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB11",
"gene_hgnc_id": 14221,
"hgvs_c": "n.603G>A",
"hgvs_p": null,
"transcript": "ENST00000610304.4",
"protein_id": null,
"transcript_support_level": 1,
"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": 1147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SERPINB11",
"gene_hgnc_id": 14221,
"hgvs_c": "c.358-753G>A",
"hgvs_p": null,
"transcript": "ENST00000623262.3",
"protein_id": "ENSP00000485532.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": -4,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SERPINB11",
"gene_hgnc_id": 14221,
"hgvs_c": "c.169-2917G>A",
"hgvs_p": null,
"transcript": "ENST00000624518.1",
"protein_id": "ENSP00000485426.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 190,
"cds_start": -4,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB11",
"gene_hgnc_id": 14221,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Ala181Thr",
"transcript": "NM_080475.5",
"protein_id": "NP_536723.2",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 392,
"cds_start": 541,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB11",
"gene_hgnc_id": 14221,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "NM_001291279.2",
"protein_id": "NP_001278208.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 217,
"cds_start": 16,
"cds_end": null,
"cds_length": 654,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 1617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB11",
"gene_hgnc_id": 14221,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Ala181Thr",
"transcript": "ENST00000489748.5",
"protein_id": "ENSP00000480275.1",
"transcript_support_level": 2,
"aa_start": 181,
"aa_end": null,
"aa_length": 180,
"cds_start": 541,
"cds_end": null,
"cds_length": 543,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 1242,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB11",
"gene_hgnc_id": 14221,
"hgvs_c": "n.*15G>A",
"hgvs_p": null,
"transcript": "ENST00000536691.5",
"protein_id": "ENSP00000441708.2",
"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": 1294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB11",
"gene_hgnc_id": 14221,
"hgvs_c": "n.*15G>A",
"hgvs_p": null,
"transcript": "ENST00000536691.5",
"protein_id": "ENSP00000441708.2",
"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": 1294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SERPINB11",
"gene_hgnc_id": 14221,
"hgvs_c": "c.358-753G>A",
"hgvs_p": null,
"transcript": "NM_001291278.2",
"protein_id": "NP_001278207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": -4,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SERPINB11",
"gene_hgnc_id": 14221,
"dbsnp": "rs1506418",
"frequency_reference_population": 0.31133318,
"hom_count_reference_population": 83935,
"allele_count_reference_population": 498328,
"gnomad_exomes_af": 0.305042,
"gnomad_genomes_af": 0.371327,
"gnomad_exomes_ac": 441919,
"gnomad_genomes_ac": 56409,
"gnomad_exomes_homalt": 72625,
"gnomad_genomes_homalt": 11310,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0004375874996185303,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.481,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1657,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.601,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000544088.6",
"gene_symbol": "SERPINB11",
"hgnc_id": 14221,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Ala181Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}