← Back to variant description
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: 19-57685346-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=57685346&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 57685346,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_138347.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF551",
"gene_hgnc_id": 25108,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Asp56Asn",
"transcript": "NM_138347.5",
"protein_id": "NP_612356.2",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 670,
"cds_start": 166,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 4560,
"mane_select": "ENST00000282296.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF551",
"gene_hgnc_id": 25108,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Asp56Asn",
"transcript": "ENST00000282296.10",
"protein_id": "ENSP00000282296.5",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 670,
"cds_start": 166,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 4560,
"mane_select": "NM_138347.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF551",
"gene_hgnc_id": 25108,
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Asp28Asn",
"transcript": "ENST00000601064.1",
"protein_id": "ENSP00000472674.1",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 555,
"cds_start": 82,
"cds_end": null,
"cds_length": 1669,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 1826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269026",
"gene_hgnc_id": null,
"hgvs_c": "c.33+3102G>A",
"hgvs_p": null,
"transcript": "ENST00000594684.1",
"protein_id": "ENSP00000472160.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 612,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF551",
"gene_hgnc_id": 25108,
"hgvs_c": "n.239-1135G>A",
"hgvs_p": null,
"transcript": "ENST00000599402.1",
"protein_id": null,
"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": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF551",
"gene_hgnc_id": 25108,
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Asp28Asn",
"transcript": "NM_001270938.2",
"protein_id": "NP_001257867.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 642,
"cds_start": 82,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 4438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF551",
"gene_hgnc_id": 25108,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Asp40Asn",
"transcript": "ENST00000596085.1",
"protein_id": "ENSP00000472230.1",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 58,
"cds_start": 118,
"cds_end": null,
"cds_length": 177,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 469,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269026",
"gene_hgnc_id": null,
"hgvs_c": "n.200+3102G>A",
"hgvs_p": null,
"transcript": "ENST00000599221.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 421,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF551",
"gene_hgnc_id": 25108,
"hgvs_c": "n.269-1135G>A",
"hgvs_p": null,
"transcript": "NR_073102.2",
"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": 4436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF551",
"gene_hgnc_id": 25108,
"dbsnp": "rs150074068",
"frequency_reference_population": 0.000037794394,
"hom_count_reference_population": 0,
"allele_count_reference_population": 61,
"gnomad_exomes_af": 0.0000383077,
"gnomad_genomes_af": 0.0000328627,
"gnomad_exomes_ac": 56,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07262441515922546,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.3982,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.265,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138347.5",
"gene_symbol": "ZNF551",
"hgnc_id": 25108,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Asp56Asn"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000594684.1",
"gene_symbol": "ENSG00000269026",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.33+3102G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}