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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: 15-43614194-ACCTGCAGCTTCC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=43614194&ref=ACCTGCAGCTTCC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 43614194,
"ref": "ACCTGCAGCTTCC",
"alt": "A",
"effect": "frameshift_variant,splice_donor_variant,splice_region_variant,intron_variant",
"transcript": "ENST00000450892.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRC",
"gene_hgnc_id": 16035,
"hgvs_c": "n.*305_*315+1delGGAAGCTGCAGG",
"hgvs_p": null,
"transcript": "ENST00000440125.5",
"protein_id": "ENSP00000394866.1",
"transcript_support_level": 1,
"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": 4291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GKLQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRC",
"gene_hgnc_id": 16035,
"hgvs_c": "c.2303_2313+1delGGAAGCTGCAGG",
"hgvs_p": "p.Lys769fs",
"transcript": "NM_153700.2",
"protein_id": "NP_714544.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1775,
"cds_start": 2303,
"cds_end": null,
"cds_length": 5328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5515,
"mane_select": "ENST00000450892.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GKLQ",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRC",
"gene_hgnc_id": 16035,
"hgvs_c": "c.2303_2313+1delGGAAGCTGCAGG",
"hgvs_p": "p.Lys769fs",
"transcript": "ENST00000450892.7",
"protein_id": "ENSP00000401513.2",
"transcript_support_level": 5,
"aa_start": 768,
"aa_end": null,
"aa_length": 1775,
"cds_start": 2303,
"cds_end": null,
"cds_length": 5328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5515,
"mane_select": "NM_153700.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"3_prime_UTR_variant",
"intron_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRC",
"gene_hgnc_id": 16035,
"hgvs_c": "n.*305_*315+1delGGAAGCTGCAGG",
"hgvs_p": null,
"transcript": "ENST00000440125.5",
"protein_id": "ENSP00000394866.1",
"transcript_support_level": 1,
"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": 4291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GKLQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRC",
"gene_hgnc_id": 16035,
"hgvs_c": "c.194_204+1delGGAAGCTGCAGG",
"hgvs_p": "p.Lys66fs",
"transcript": "ENST00000541030.5",
"protein_id": "ENSP00000440413.1",
"transcript_support_level": 5,
"aa_start": 65,
"aa_end": null,
"aa_length": 1002,
"cds_start": 194,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRC",
"gene_hgnc_id": 16035,
"hgvs_c": "n.2303_2313+1delGGAAGCTGCAGG",
"hgvs_p": null,
"transcript": "ENST00000428650.5",
"protein_id": "ENSP00000415991.1",
"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": 5386,
"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": "ENSG00000309475",
"gene_hgnc_id": null,
"hgvs_c": "n.142+2800_142+2811delCCTGCAGCTTCC",
"hgvs_p": null,
"transcript": "ENST00000841330.1",
"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": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284772",
"gene_hgnc_id": null,
"hgvs_c": "n.*1524_*1535delGGAAGCTGCAGG",
"hgvs_p": null,
"transcript": "ENST00000643290.1",
"protein_id": "ENSP00000495476.1",
"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": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STRC",
"gene_hgnc_id": 16035,
"dbsnp": "rs1021413948",
"frequency_reference_population": 0.000870322,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00132967,
"gnomad_genomes_af": 0.000870322,
"gnomad_exomes_ac": 351,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 9,
"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": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.064,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000450892.7",
"gene_symbol": "STRC",
"hgnc_id": 16035,
"effects": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2303_2313+1delGGAAGCTGCAGG",
"hgvs_p": "p.Lys769fs"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000841330.1",
"gene_symbol": "ENSG00000309475",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.142+2800_142+2811delCCTGCAGCTTCC",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000643290.1",
"gene_symbol": "ENSG00000284772",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1524_*1535delGGAAGCTGCAGG",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 16,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Autosomal recessive nonsyndromic hearing loss 16|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}