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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: 14-20457272-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=20457272&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 20457272,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000216714.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Arg",
"transcript": "NM_001641.4",
"protein_id": "NP_001632.2",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 318,
"cds_start": 721,
"cds_end": null,
"cds_length": 957,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": "ENST00000216714.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Arg",
"transcript": "ENST00000216714.8",
"protein_id": "ENSP00000216714.3",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 318,
"cds_start": 721,
"cds_end": null,
"cds_length": 957,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": "NM_001641.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Arg",
"transcript": "ENST00000398030.8",
"protein_id": "ENSP00000381111.4",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 318,
"cds_start": 721,
"cds_end": null,
"cds_length": 957,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 1387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Arg",
"transcript": "ENST00000555414.5",
"protein_id": "ENSP00000451979.1",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 318,
"cds_start": 721,
"cds_end": null,
"cds_length": 957,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "n.1141G>A",
"hgvs_p": null,
"transcript": "ENST00000553555.5",
"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": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Arg",
"transcript": "NM_001244249.2",
"protein_id": "NP_001231178.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 318,
"cds_start": 721,
"cds_end": null,
"cds_length": 957,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 1448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Arg",
"transcript": "NM_080648.3",
"protein_id": "NP_542379.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 318,
"cds_start": 721,
"cds_end": null,
"cds_length": 957,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 1387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Arg",
"transcript": "NM_080649.3",
"protein_id": "NP_542380.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 318,
"cds_start": 721,
"cds_end": null,
"cds_length": 957,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Arg",
"transcript": "ENST00000553681.5",
"protein_id": "ENSP00000451327.1",
"transcript_support_level": 3,
"aa_start": 241,
"aa_end": null,
"aa_length": 262,
"cds_start": 721,
"cds_end": null,
"cds_length": 791,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.634G>A",
"hgvs_p": "p.Gly212Arg",
"transcript": "ENST00000555839.5",
"protein_id": "ENSP00000452460.1",
"transcript_support_level": 2,
"aa_start": 212,
"aa_end": null,
"aa_length": 241,
"cds_start": 634,
"cds_end": null,
"cds_length": 728,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "n.1337G>A",
"hgvs_p": null,
"transcript": "ENST00000557159.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "n.801G>A",
"hgvs_p": null,
"transcript": "ENST00000557365.1",
"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": 831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.*132G>A",
"hgvs_p": null,
"transcript": "ENST00000557054.1",
"protein_id": "ENSP00000452212.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 14,
"cds_start": -4,
"cds_end": null,
"cds_length": 45,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.*198G>A",
"hgvs_p": null,
"transcript": "ENST00000556054.5",
"protein_id": "ENSP00000451170.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": -4,
"cds_end": null,
"cds_length": 523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.*153G>A",
"hgvs_p": null,
"transcript": "ENST00000557592.5",
"protein_id": "ENSP00000451060.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": -4,
"cds_end": null,
"cds_length": 517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.*183G>A",
"hgvs_p": null,
"transcript": "ENST00000557150.5",
"protein_id": "ENSP00000452418.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": -4,
"cds_end": null,
"cds_length": 487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.*50G>A",
"hgvs_p": null,
"transcript": "ENST00000438886.1",
"protein_id": "ENSP00000416414.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": -4,
"cds_end": null,
"cds_length": 449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "n.*133G>A",
"hgvs_p": null,
"transcript": "ENST00000554813.5",
"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": 654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"dbsnp": "rs33956927",
"frequency_reference_population": 0.0010104014,
"hom_count_reference_population": 20,
"allele_count_reference_population": 1631,
"gnomad_exomes_af": 0.000574599,
"gnomad_genomes_af": 0.00519301,
"gnomad_exomes_ac": 840,
"gnomad_genomes_ac": 791,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_homalt": 11,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008568823337554932,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.205,
"revel_prediction": "Benign",
"alphamissense_score": 0.263,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.933,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000216714.8",
"gene_symbol": "APEX1",
"hgnc_id": 587,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Arg"
}
],
"clinvar_disease": "APEX1-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "APEX1-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}