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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: 18-63978310-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=63978310&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 63978310,
"ref": "T",
"alt": "C",
"effect": "start_lost",
"transcript": "ENST00000397985.7",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_002640.4",
"protein_id": "NP_002631.3",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 374,
"cds_start": 2,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": "ENST00000397985.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000397985.7",
"protein_id": "ENSP00000381072.2",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 374,
"cds_start": 2,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": "NM_002640.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000397988.7",
"protein_id": "ENSP00000381075.3",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 242,
"cds_start": 2,
"cds_end": null,
"cds_length": 729,
"cdna_start": 64,
"cdna_end": null,
"cdna_length": 1178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001366198.1",
"protein_id": "NP_001353127.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 374,
"cds_start": 2,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 3399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_198833.2",
"protein_id": "NP_942130.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 374,
"cds_start": 2,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 119,
"cdna_end": null,
"cdna_length": 3338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000353706.6",
"protein_id": "ENSP00000331368.3",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 374,
"cds_start": 2,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001348367.2",
"protein_id": "NP_001335296.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 259,
"cds_start": 2,
"cds_end": null,
"cds_length": 780,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000636430.1",
"protein_id": "ENSP00000489949.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 259,
"cds_start": 2,
"cds_end": null,
"cds_length": 780,
"cdna_start": 69,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001348368.2",
"protein_id": "NP_001335297.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 247,
"cds_start": 2,
"cds_end": null,
"cds_length": 744,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 3232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001348369.2",
"protein_id": "NP_001335298.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 247,
"cds_start": 2,
"cds_end": null,
"cds_length": 744,
"cdna_start": 119,
"cdna_end": null,
"cdna_length": 3249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001031848.2",
"protein_id": "NP_001027018.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 242,
"cds_start": 2,
"cds_end": null,
"cds_length": 729,
"cdna_start": 102,
"cdna_end": null,
"cdna_length": 1213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000441827.5",
"protein_id": "ENSP00000393456.1",
"transcript_support_level": 4,
"aa_start": 1,
"aa_end": null,
"aa_length": 163,
"cds_start": 2,
"cds_end": null,
"cds_length": 493,
"cdna_start": 73,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000448851.5",
"protein_id": "ENSP00000414580.1",
"transcript_support_level": 4,
"aa_start": 1,
"aa_end": null,
"aa_length": 123,
"cds_start": 2,
"cds_end": null,
"cds_length": 372,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 580,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMSD",
"gene_hgnc_id": 23037,
"hgvs_c": "n.324T>C",
"hgvs_p": null,
"transcript": "ENST00000481726.1",
"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": 682,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.-229-1491T>C",
"hgvs_p": null,
"transcript": "NM_001348370.2",
"protein_id": "NP_001335299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": -4,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3000,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.-378-1491T>C",
"hgvs_p": null,
"transcript": "NM_001276490.2",
"protein_id": "NP_001263419.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3143,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "c.-378-1491T>C",
"hgvs_p": null,
"transcript": "ENST00000542677.5",
"protein_id": "ENSP00000438328.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"hgvs_c": "n.91-1491T>C",
"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
}
],
"gene_symbol": "SERPINB8",
"gene_hgnc_id": 8952,
"dbsnp": "rs374612640",
"frequency_reference_population": 0.00006753048,
"hom_count_reference_population": 0,
"allele_count_reference_population": 109,
"gnomad_exomes_af": 0.0000731936,
"gnomad_genomes_af": 0.0000131397,
"gnomad_exomes_ac": 107,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9438658952713013,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.876,
"revel_prediction": "Pathogenic",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.054,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000397985.7",
"gene_symbol": "SERPINB8",
"hgnc_id": 8952,
"effects": [
"start_lost"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000481726.1",
"gene_symbol": "HMSD",
"hgnc_id": 23037,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.324T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Peeling skin syndrome 5",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Peeling skin syndrome 5",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}