← 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: 11-67664416-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67664416&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 67664416,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001031615.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B2",
"gene_hgnc_id": 411,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Ala285Thr",
"transcript": "NM_001393402.2",
"protein_id": "NP_001380331.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 385,
"cds_start": 853,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000673966.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393402.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B2",
"gene_hgnc_id": 411,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Ala285Thr",
"transcript": "ENST00000673966.2",
"protein_id": "ENSP00000501254.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 385,
"cds_start": 853,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001393402.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673966.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B2",
"gene_hgnc_id": 411,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Ala285Thr",
"transcript": "ENST00000530069.6",
"protein_id": "ENSP00000431595.1",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 385,
"cds_start": 853,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530069.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B2",
"gene_hgnc_id": 411,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Ala285Thr",
"transcript": "NM_001031615.3",
"protein_id": "NP_001026786.3",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 385,
"cds_start": 853,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031615.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B2",
"gene_hgnc_id": 411,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Ala285Thr",
"transcript": "NM_001354345.3",
"protein_id": "NP_001341274.2",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 385,
"cds_start": 853,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354345.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B2",
"gene_hgnc_id": 411,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Ala285Thr",
"transcript": "NM_001393400.1",
"protein_id": "NP_001380329.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 385,
"cds_start": 853,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393400.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B2",
"gene_hgnc_id": 411,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Ala285Thr",
"transcript": "ENST00000349015.7",
"protein_id": "ENSP00000255084.3",
"transcript_support_level": 5,
"aa_start": 285,
"aa_end": null,
"aa_length": 385,
"cds_start": 853,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349015.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B2",
"gene_hgnc_id": 411,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Ala285Thr",
"transcript": "NM_001393401.1",
"protein_id": "NP_001380330.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 323,
"cds_start": 853,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393401.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B2",
"gene_hgnc_id": 411,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Ala285Thr",
"transcript": "XM_047426561.1",
"protein_id": "XP_047282517.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 385,
"cds_start": 853,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426561.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B2",
"gene_hgnc_id": 411,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Ala285Thr",
"transcript": "XM_047426562.1",
"protein_id": "XP_047282518.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 385,
"cds_start": 853,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426562.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B2",
"gene_hgnc_id": 411,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Ala285Thr",
"transcript": "XM_047426563.1",
"protein_id": "XP_047282519.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 385,
"cds_start": 853,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426563.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B2",
"gene_hgnc_id": 411,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Ala285Thr",
"transcript": "XM_047426564.1",
"protein_id": "XP_047282520.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 323,
"cds_start": 853,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426564.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B2",
"gene_hgnc_id": 411,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Ala285Thr",
"transcript": "XM_047426565.1",
"protein_id": "XP_047282521.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 323,
"cds_start": 853,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426565.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ALDH3B2",
"gene_hgnc_id": 411,
"hgvs_c": "c.158+5G>A",
"hgvs_p": null,
"transcript": "ENST00000531248.1",
"protein_id": "ENSP00000435476.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": null,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531248.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3B2",
"gene_hgnc_id": 411,
"hgvs_c": "n.1284G>A",
"hgvs_p": null,
"transcript": "ENST00000534425.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000534425.6"
}
],
"gene_symbol": "ALDH3B2",
"gene_hgnc_id": 411,
"dbsnp": "rs147016371",
"frequency_reference_population": 0.00017162033,
"hom_count_reference_population": 0,
"allele_count_reference_population": 277,
"gnomad_exomes_af": 0.000177175,
"gnomad_genomes_af": 0.000118267,
"gnomad_exomes_ac": 259,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12542232871055603,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.29,
"revel_prediction": "Benign",
"alphamissense_score": 0.1066,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.143,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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_001031615.3",
"gene_symbol": "ALDH3B2",
"hgnc_id": 411,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Ala285Thr"
}
],
"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
}