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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: 18-63895320-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=63895320&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 63895320,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002575.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.225C>A",
"hgvs_p": "p.Asn75Lys",
"transcript": "NM_002575.3",
"protein_id": "NP_002566.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 415,
"cds_start": 225,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": "ENST00000299502.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.225C>A",
"hgvs_p": "p.Asn75Lys",
"transcript": "ENST00000299502.9",
"protein_id": "ENSP00000299502.4",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 415,
"cds_start": 225,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": "NM_002575.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.225C>A",
"hgvs_p": "p.Asn75Lys",
"transcript": "NM_001143818.2",
"protein_id": "NP_001137290.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 415,
"cds_start": 225,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.225C>A",
"hgvs_p": "p.Asn75Lys",
"transcript": "ENST00000457692.5",
"protein_id": "ENSP00000401645.1",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 415,
"cds_start": 225,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.225C>A",
"hgvs_p": "p.Asn75Lys",
"transcript": "ENST00000413956.5",
"protein_id": "ENSP00000402386.1",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 160,
"cds_start": 225,
"cds_end": null,
"cds_length": 483,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.225C>A",
"hgvs_p": "p.Asn75Lys",
"transcript": "ENST00000443281.1",
"protein_id": "ENSP00000397096.1",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 131,
"cds_start": 225,
"cds_end": null,
"cds_length": 398,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.225C>A",
"hgvs_p": "p.Asn75Lys",
"transcript": "ENST00000404622.5",
"protein_id": "ENSP00000385397.1",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 112,
"cds_start": 225,
"cds_end": null,
"cds_length": 341,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "c.225C>A",
"hgvs_p": "p.Asn75Lys",
"transcript": "XM_024451192.2",
"protein_id": "XP_024306960.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 415,
"cds_start": 225,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 3430,
"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": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"hgvs_c": "n.181C>A",
"hgvs_p": null,
"transcript": "ENST00000482254.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SERPINB2",
"gene_hgnc_id": 8584,
"dbsnp": "rs200884637",
"frequency_reference_population": 0.000054518667,
"hom_count_reference_population": 3,
"allele_count_reference_population": 88,
"gnomad_exomes_af": 0.0000499384,
"gnomad_genomes_af": 0.000098473,
"gnomad_exomes_ac": 73,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02416709065437317,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.228,
"revel_prediction": "Benign",
"alphamissense_score": 0.1059,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -6.445,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 8,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Strong",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002575.3",
"gene_symbol": "SERPINB2",
"hgnc_id": 8584,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.225C>A",
"hgvs_p": "p.Asn75Lys"
}
],
"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
}