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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: 14-94304561-CCA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94304561&ref=CCA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 94304561,
"ref": "CCA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001756.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA6",
"gene_hgnc_id": 1540,
"hgvs_c": "c.1073_1074delTG",
"hgvs_p": "p.Val358fs",
"transcript": "NM_001756.4",
"protein_id": "NP_001747.3",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 405,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 1477,
"mane_select": "ENST00000341584.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001756.4"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA6",
"gene_hgnc_id": 1540,
"hgvs_c": "c.1073_1074delTG",
"hgvs_p": "p.Val358fs",
"transcript": "ENST00000341584.4",
"protein_id": "ENSP00000342850.3",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 405,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 1477,
"mane_select": "NM_001756.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341584.4"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA6",
"gene_hgnc_id": 1540,
"hgvs_c": "c.1244_1245delTG",
"hgvs_p": "p.Val415fs",
"transcript": "ENST00000874318.1",
"protein_id": "ENSP00000544377.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 462,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 1698,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874318.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA6",
"gene_hgnc_id": 1540,
"hgvs_c": "c.1166_1167delTG",
"hgvs_p": "p.Val389fs",
"transcript": "ENST00000874321.1",
"protein_id": "ENSP00000544380.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 436,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874321.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA6",
"gene_hgnc_id": 1540,
"hgvs_c": "c.1076_1077delTG",
"hgvs_p": "p.Val359fs",
"transcript": "ENST00000874317.1",
"protein_id": "ENSP00000544376.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 406,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874317.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA6",
"gene_hgnc_id": 1540,
"hgvs_c": "c.1073_1074delTG",
"hgvs_p": "p.Val358fs",
"transcript": "ENST00000874319.1",
"protein_id": "ENSP00000544378.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 405,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874319.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA6",
"gene_hgnc_id": 1540,
"hgvs_c": "c.1073_1074delTG",
"hgvs_p": "p.Val358fs",
"transcript": "ENST00000874320.1",
"protein_id": "ENSP00000544379.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 405,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 1541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874320.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA6",
"gene_hgnc_id": 1540,
"hgvs_c": "c.1244_1245delTG",
"hgvs_p": "p.Val415fs",
"transcript": "XM_047431827.1",
"protein_id": "XP_047287783.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 462,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431827.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA6",
"gene_hgnc_id": 1540,
"hgvs_c": "n.*385_*386delTG",
"hgvs_p": null,
"transcript": "ENST00000555056.1",
"protein_id": "ENSP00000451045.1",
"transcript_support_level": 2,
"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": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555056.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA6",
"gene_hgnc_id": 1540,
"hgvs_c": "n.*385_*386delTG",
"hgvs_p": null,
"transcript": "ENST00000555056.1",
"protein_id": "ENSP00000451045.1",
"transcript_support_level": 2,
"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": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555056.1"
}
],
"gene_symbol": "SERPINA6",
"gene_hgnc_id": 1540,
"dbsnp": "rs1171892814",
"frequency_reference_population": 0.0000030977822,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273622,
"gnomad_genomes_af": 0.00000657091,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.383,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001756.4",
"gene_symbol": "SERPINA6",
"hgnc_id": 1540,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD,SD,Unknown",
"hgvs_c": "c.1073_1074delTG",
"hgvs_p": "p.Val358fs"
}
],
"clinvar_disease": "Corticosteroid-binding globulin deficiency,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Corticosteroid-binding globulin deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}