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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: 8-11755064-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=11755064&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 11755064,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000532059.6",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.931A>G",
"hgvs_p": "p.Met311Val",
"transcript": "NM_001308093.3",
"protein_id": "NP_001295022.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 443,
"cds_start": 931,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 3419,
"mane_select": "ENST00000532059.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.931A>G",
"hgvs_p": "p.Met311Val",
"transcript": "ENST00000532059.6",
"protein_id": "ENSP00000435712.1",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 443,
"cds_start": 931,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 3419,
"mane_select": "NM_001308093.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.928A>G",
"hgvs_p": "p.Met310Val",
"transcript": "NM_002052.5",
"protein_id": "NP_002043.2",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 442,
"cds_start": 928,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.928A>G",
"hgvs_p": "p.Met310Val",
"transcript": "ENST00000335135.8",
"protein_id": "ENSP00000334458.4",
"transcript_support_level": 5,
"aa_start": 310,
"aa_end": null,
"aa_length": 442,
"cds_start": 928,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 3414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.928A>G",
"hgvs_p": "p.Met310Val",
"transcript": "ENST00000622443.3",
"protein_id": "ENSP00000482268.2",
"transcript_support_level": 5,
"aa_start": 310,
"aa_end": null,
"aa_length": 442,
"cds_start": 928,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Met104Val",
"transcript": "NM_001308094.2",
"protein_id": "NP_001295023.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 236,
"cds_start": 310,
"cds_end": null,
"cds_length": 711,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Met104Val",
"transcript": "NM_001374273.1",
"protein_id": "NP_001361202.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 236,
"cds_start": 310,
"cds_end": null,
"cds_length": 711,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Met104Val",
"transcript": "ENST00000528712.5",
"protein_id": "ENSP00000435043.1",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 236,
"cds_start": 310,
"cds_end": null,
"cds_length": 711,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 2614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.184A>G",
"hgvs_p": "p.Met62Val",
"transcript": "NM_001374274.1",
"protein_id": "NP_001361203.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 194,
"cds_start": 184,
"cds_end": null,
"cds_length": 585,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 2376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Met104Val",
"transcript": "ENST00000526716.5",
"protein_id": "ENSP00000435347.1",
"transcript_support_level": 4,
"aa_start": 104,
"aa_end": null,
"aa_length": 174,
"cds_start": 310,
"cds_end": null,
"cds_length": 527,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"dbsnp": "rs387906772",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9320278167724609,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.943,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9969,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.113,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000532059.6",
"gene_symbol": "GATA4",
"hgnc_id": 4173,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.931A>G",
"hgvs_p": "p.Met311Val"
}
],
"clinvar_disease": "Atrial septal defect 2,GATA4-related disorder",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Atrial septal defect 2|GATA4-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}