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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: 18-63987003-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=63987003&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 63987003,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000397985.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Arg284*",
"transcript": "NM_002640.4",
"protein_id": "NP_002631.3",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 374,
"cds_start": 850,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": "ENST00000397985.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Arg284*",
"transcript": "ENST00000397985.7",
"protein_id": "ENSP00000381072.2",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 374,
"cds_start": 850,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": "NM_002640.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Arg284*",
"transcript": "NM_001366198.1",
"protein_id": "NP_001353127.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 374,
"cds_start": 850,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 3399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Arg284*",
"transcript": "NM_198833.2",
"protein_id": "NP_942130.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 374,
"cds_start": 850,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 3338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Arg284*",
"transcript": "ENST00000353706.6",
"protein_id": "ENSP00000331368.3",
"transcript_support_level": 5,
"aa_start": 284,
"aa_end": null,
"aa_length": 374,
"cds_start": 850,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104*",
"transcript": "NM_001348370.2",
"protein_id": "NP_001335299.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 194,
"cds_start": 310,
"cds_end": null,
"cds_length": 585,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 3000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Arg102*",
"transcript": "NM_001276490.2",
"protein_id": "NP_001263419.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 192,
"cds_start": 304,
"cds_end": null,
"cds_length": 579,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Arg102*",
"transcript": "ENST00000542677.5",
"protein_id": "ENSP00000438328.1",
"transcript_support_level": 2,
"aa_start": 102,
"aa_end": null,
"aa_length": 192,
"cds_start": 304,
"cds_end": null,
"cds_length": 579,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 3192,
"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": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "n.683C>T",
"hgvs_p": null,
"transcript": "NR_145571.2",
"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": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.*17C>T",
"hgvs_p": null,
"transcript": "NM_001348368.2",
"protein_id": "NP_001335297.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.*17C>T",
"hgvs_p": null,
"transcript": "NM_001348369.2",
"protein_id": "NP_001335298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.*17C>T",
"hgvs_p": null,
"transcript": "ENST00000295211.5",
"protein_id": "ENSP00000295211.5",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": -4,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 979,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.720+1758C>T",
"hgvs_p": null,
"transcript": "NM_001348367.2",
"protein_id": "NP_001335296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": -4,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1752,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.720+1758C>T",
"hgvs_p": null,
"transcript": "ENST00000636430.1",
"protein_id": "ENSP00000489949.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": -4,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1719,
"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": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.69+1758C>T",
"hgvs_p": null,
"transcript": "ENST00000493661.2",
"protein_id": "ENSP00000478199.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 42,
"cds_start": -4,
"cds_end": null,
"cds_length": 129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"dbsnp": "rs144666367",
"frequency_reference_population": 0.0004516253,
"hom_count_reference_population": 2,
"allele_count_reference_population": 729,
"gnomad_exomes_af": 0.000458995,
"gnomad_genomes_af": 0.000380872,
"gnomad_exomes_ac": 671,
"gnomad_genomes_ac": 58,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5799999833106995,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.494,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Strong,PP5,BS2",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 4,
"pathogenic_score": 5,
"criteria": [
"PVS1_Strong",
"PP5",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000397985.7",
"gene_symbol": "SERPINB8",
"hgnc_id": 8952,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Arg284*"
}
],
"clinvar_disease": "Peeling skin syndrome 5,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:2",
"phenotype_combined": "Peeling skin syndrome 5|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}