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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: 11-130188187-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=130188187&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 130188187,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_021978.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST14",
"gene_hgnc_id": 11344,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "NM_021978.4",
"protein_id": "NP_068813.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 855,
"cds_start": 155,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278742.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021978.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST14",
"gene_hgnc_id": 11344,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000278742.6",
"protein_id": "ENSP00000278742.5",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 855,
"cds_start": 155,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021978.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278742.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST14",
"gene_hgnc_id": 11344,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000894129.1",
"protein_id": "ENSP00000564188.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 872,
"cds_start": 155,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894129.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST14",
"gene_hgnc_id": 11344,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000894128.1",
"protein_id": "ENSP00000564187.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 860,
"cds_start": 155,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894128.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST14",
"gene_hgnc_id": 11344,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000894126.1",
"protein_id": "ENSP00000564185.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 851,
"cds_start": 155,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894126.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST14",
"gene_hgnc_id": 11344,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000894133.1",
"protein_id": "ENSP00000564192.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 850,
"cds_start": 155,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894133.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST14",
"gene_hgnc_id": 11344,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000894131.1",
"protein_id": "ENSP00000564190.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 845,
"cds_start": 155,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894131.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST14",
"gene_hgnc_id": 11344,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000894127.1",
"protein_id": "ENSP00000564186.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 820,
"cds_start": 155,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894127.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST14",
"gene_hgnc_id": 11344,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000894130.1",
"protein_id": "ENSP00000564189.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 817,
"cds_start": 155,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894130.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST14",
"gene_hgnc_id": 11344,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000894132.1",
"protein_id": "ENSP00000564191.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 814,
"cds_start": 155,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894132.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST14",
"gene_hgnc_id": 11344,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000962552.1",
"protein_id": "ENSP00000632611.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 746,
"cds_start": 155,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962552.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST14",
"gene_hgnc_id": 11344,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000938964.1",
"protein_id": "ENSP00000609023.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 717,
"cds_start": 155,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938964.1"
}
],
"gene_symbol": "ST14",
"gene_hgnc_id": 11344,
"dbsnp": "rs756582158",
"frequency_reference_population": 0.000009912952,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000752451,
"gnomad_genomes_af": 0.0000328601,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11022350192070007,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.0995,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.693,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_021978.4",
"gene_symbol": "ST14",
"hgnc_id": 11344,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}