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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: 18-63891538-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=63891538&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 63891538,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002575.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.94C>T",
"hgvs_p": "p.Pro32Ser",
"transcript": "NM_002575.3",
"protein_id": "NP_002566.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 415,
"cds_start": 94,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": "ENST00000299502.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.94C>T",
"hgvs_p": "p.Pro32Ser",
"transcript": "ENST00000299502.9",
"protein_id": "ENSP00000299502.4",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 415,
"cds_start": 94,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": "NM_002575.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.94C>T",
"hgvs_p": "p.Pro32Ser",
"transcript": "NM_001143818.2",
"protein_id": "NP_001137290.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 415,
"cds_start": 94,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.94C>T",
"hgvs_p": "p.Pro32Ser",
"transcript": "ENST00000457692.5",
"protein_id": "ENSP00000401645.1",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 415,
"cds_start": 94,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.94C>T",
"hgvs_p": "p.Pro32Ser",
"transcript": "ENST00000413956.5",
"protein_id": "ENSP00000402386.1",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 160,
"cds_start": 94,
"cds_end": null,
"cds_length": 483,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.94C>T",
"hgvs_p": "p.Pro32Ser",
"transcript": "ENST00000443281.1",
"protein_id": "ENSP00000397096.1",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 131,
"cds_start": 94,
"cds_end": null,
"cds_length": 398,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.94C>T",
"hgvs_p": "p.Pro32Ser",
"transcript": "ENST00000404622.5",
"protein_id": "ENSP00000385397.1",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 112,
"cds_start": 94,
"cds_end": null,
"cds_length": 341,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.94C>T",
"hgvs_p": "p.Pro32Ser",
"transcript": "XM_024451192.2",
"protein_id": "XP_024306960.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 415,
"cds_start": 94,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 3299,
"cdna_end": null,
"cdna_length": 5036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC124904356",
"gene_hgnc_id": null,
"hgvs_c": "n.183+1083G>A",
"hgvs_p": null,
"transcript": "XR_007066466.1",
"protein_id": null,
"transcript_support_level": null,
"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": 355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"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": 0.9795410633087158,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.816,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4008,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.55,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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_002575.3",
"gene_symbol": "SERPINB2",
"hgnc_id": 8584,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.94C>T",
"hgvs_p": "p.Pro32Ser"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "XR_007066466.1",
"gene_symbol": "LOC124904356",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.183+1083G>A",
"hgvs_p": null
}
],
"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
}