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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: 18-63594479-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=63594479&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 63594479,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001307923.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB13",
"gene_hgnc_id": 8944,
"hgvs_c": "c.597G>A",
"hgvs_p": "p.Glu199Glu",
"transcript": "NM_012397.4",
"protein_id": "NP_036529.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 391,
"cds_start": 597,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344731.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012397.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB13",
"gene_hgnc_id": 8944,
"hgvs_c": "c.597G>A",
"hgvs_p": "p.Glu199Glu",
"transcript": "ENST00000344731.10",
"protein_id": "ENSP00000341584.6",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 391,
"cds_start": 597,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012397.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344731.10"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB13",
"gene_hgnc_id": 8944,
"hgvs_c": "c.624G>A",
"hgvs_p": "p.Glu208Glu",
"transcript": "ENST00000269489.9",
"protein_id": "ENSP00000269489.6",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 400,
"cds_start": 624,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269489.9"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB13",
"gene_hgnc_id": 8944,
"hgvs_c": "n.*309G>A",
"hgvs_p": null,
"transcript": "ENST00000438844.1",
"protein_id": "ENSP00000394592.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000438844.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB13",
"gene_hgnc_id": 8944,
"hgvs_c": "n.*309G>A",
"hgvs_p": null,
"transcript": "ENST00000438844.1",
"protein_id": "ENSP00000394592.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000438844.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB13",
"gene_hgnc_id": 8944,
"hgvs_c": "c.624G>A",
"hgvs_p": "p.Glu208Glu",
"transcript": "NM_001307923.2",
"protein_id": "NP_001294852.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 400,
"cds_start": 624,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001307923.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB13",
"gene_hgnc_id": 8944,
"hgvs_c": "c.189G>A",
"hgvs_p": "p.Glu63Glu",
"transcript": "NM_001348267.2",
"protein_id": "NP_001335196.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 255,
"cds_start": 189,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348267.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB13",
"gene_hgnc_id": 8944,
"hgvs_c": "c.189G>A",
"hgvs_p": "p.Glu63Glu",
"transcript": "NM_001348268.2",
"protein_id": "NP_001335197.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 255,
"cds_start": 189,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348268.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB13",
"gene_hgnc_id": 8944,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Glu20Glu",
"transcript": "NM_001348269.2",
"protein_id": "NP_001335198.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 212,
"cds_start": 60,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348269.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB13",
"gene_hgnc_id": 8944,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Glu20Glu",
"transcript": "NM_001348270.2",
"protein_id": "NP_001335199.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 212,
"cds_start": 60,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348270.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB13",
"gene_hgnc_id": 8944,
"hgvs_c": "c.594G>A",
"hgvs_p": "p.Glu198Glu",
"transcript": "XM_011526029.4",
"protein_id": "XP_011524331.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 390,
"cds_start": 594,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526029.4"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SERPINB13",
"gene_hgnc_id": 8944,
"hgvs_c": "c.163-550G>A",
"hgvs_p": null,
"transcript": "ENST00000415733.1",
"protein_id": "ENSP00000391156.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415733.1"
}
],
"gene_symbol": "SERPINB13",
"gene_hgnc_id": 8944,
"dbsnp": "rs377348890",
"frequency_reference_population": 0.000004789069,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478907,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7400000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.857,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001307923.2",
"gene_symbol": "SERPINB13",
"hgnc_id": 8944,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.624G>A",
"hgvs_p": "p.Glu208Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}