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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: 3-32159591-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=32159591&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 32159591,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_015141.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.876G>A",
"hgvs_p": "p.Glu292Glu",
"transcript": "NM_015141.4",
"protein_id": "NP_055956.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 351,
"cds_start": 876,
"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": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.876G>A",
"hgvs_p": "p.Glu292Glu",
"transcript": "ENST00000282541.10",
"protein_id": "ENSP00000282541.6",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 351,
"cds_start": 876,
"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": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.873G>A",
"hgvs_p": "p.Glu291Glu",
"transcript": "ENST00000902849.1",
"protein_id": "ENSP00000572908.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 350,
"cds_start": 873,
"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": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.642G>A",
"hgvs_p": "p.Glu214Glu",
"transcript": "ENST00000902848.1",
"protein_id": "ENSP00000572907.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 273,
"cds_start": 642,
"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": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.639G>A",
"hgvs_p": "p.Glu213Glu",
"transcript": "ENST00000951741.1",
"protein_id": "ENSP00000621800.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 272,
"cds_start": 639,
"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": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.501G>A",
"hgvs_p": "p.Glu167Glu",
"transcript": "ENST00000902850.1",
"protein_id": "ENSP00000572909.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 226,
"cds_start": 501,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.498G>A",
"hgvs_p": "p.Glu166Glu",
"transcript": "ENST00000951743.1",
"protein_id": "ENSP00000621802.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 225,
"cds_start": 498,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.483G>A",
"hgvs_p": "p.Glu161Glu",
"transcript": "ENST00000951742.1",
"protein_id": "ENSP00000621801.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 220,
"cds_start": 483,
"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": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "c.735G>A",
"hgvs_p": "p.Glu245Glu",
"transcript": "XM_006713068.3",
"protein_id": "XP_006713131.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 304,
"cds_start": 735,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "n.*503G>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"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "n.800G>A",
"hgvs_p": null,
"transcript": "ENST00000474846.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000474846.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "n.377G>A",
"hgvs_p": null,
"transcript": "ENST00000496151.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000496151.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPD1L",
"gene_hgnc_id": 28956,
"hgvs_c": "n.*503G>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": "rs72546642",
"frequency_reference_population": 0.00008948056,
"hom_count_reference_population": 0,
"allele_count_reference_population": 144,
"gnomad_exomes_af": 0.0000885224,
"gnomad_genomes_af": 0.0000986647,
"gnomad_exomes_ac": 129,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.492,
"phylop100way_prediction": "Benign",
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015141.4",
"gene_symbol": "GPD1L",
"hgnc_id": 28956,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.876G>A",
"hgvs_p": "p.Glu292Glu"
}
],
"clinvar_disease": "Brugada syndrome,Cardiovascular phenotype,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Brugada syndrome|Cardiovascular phenotype|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}