← 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: 3-32138608-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=32138608&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 32138608,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015141.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.247G>A",
"hgvs_p": "p.Glu83Lys",
"transcript": "NM_015141.4",
"protein_id": "NP_055956.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 351,
"cds_start": 247,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282541.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015141.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.247G>A",
"hgvs_p": "p.Glu83Lys",
"transcript": "ENST00000282541.10",
"protein_id": "ENSP00000282541.6",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 351,
"cds_start": 247,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015141.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282541.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Glu82Lys",
"transcript": "ENST00000902849.1",
"protein_id": "ENSP00000572908.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 350,
"cds_start": 244,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902849.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.247G>A",
"hgvs_p": "p.Glu83Lys",
"transcript": "ENST00000902848.1",
"protein_id": "ENSP00000572907.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 273,
"cds_start": 247,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902848.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Glu82Lys",
"transcript": "ENST00000951741.1",
"protein_id": "ENSP00000621800.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 272,
"cds_start": 244,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951741.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Glu44Lys",
"transcript": "ENST00000431009.1",
"protein_id": "ENSP00000416518.1",
"transcript_support_level": 4,
"aa_start": 44,
"aa_end": null,
"aa_length": 143,
"cds_start": 130,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431009.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Glu44Lys",
"transcript": "ENST00000429432.5",
"protein_id": "ENSP00000393861.1",
"transcript_support_level": 4,
"aa_start": 44,
"aa_end": null,
"aa_length": 126,
"cds_start": 130,
"cds_end": null,
"cds_length": 383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429432.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.226-1620G>A",
"hgvs_p": null,
"transcript": "ENST00000902850.1",
"protein_id": "ENSP00000572909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902850.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.223-1620G>A",
"hgvs_p": null,
"transcript": "ENST00000951743.1",
"protein_id": "ENSP00000621802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 225,
"cds_start": null,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951743.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.225+10355G>A",
"hgvs_p": null,
"transcript": "ENST00000951742.1",
"protein_id": "ENSP00000621801.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951742.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.226-1620G>A",
"hgvs_p": null,
"transcript": "ENST00000425459.5",
"protein_id": "ENSP00000408770.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425459.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.226-1620G>A",
"hgvs_p": null,
"transcript": "XM_006713068.3",
"protein_id": "XP_006713131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": null,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713068.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "n.69G>A",
"hgvs_p": null,
"transcript": "ENST00000428684.1",
"protein_id": "ENSP00000392199.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000428684.1"
}
],
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"dbsnp": "rs72552292",
"frequency_reference_population": 0.00016666172,
"hom_count_reference_population": 1,
"allele_count_reference_population": 269,
"gnomad_exomes_af": 0.000167606,
"gnomad_genomes_af": 0.000157598,
"gnomad_exomes_ac": 245,
"gnomad_genomes_ac": 24,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18867763876914978,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.259,
"revel_prediction": "Benign",
"alphamissense_score": 0.1078,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.61,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_015141.4",
"gene_symbol": "GPD1L",
"hgnc_id": 28956,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.247G>A",
"hgvs_p": "p.Glu83Lys"
}
],
"clinvar_disease": "Brugada syndrome,Brugada syndrome 2,Cardiovascular phenotype,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1 O:1",
"phenotype_combined": "Brugada syndrome 2|Brugada syndrome|not provided|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}