← 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: 15-88626383-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=88626383&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 88626383,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000332810.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEN",
"gene_hgnc_id": 25722,
"hgvs_c": "c.174A>G",
"hgvs_p": "p.Glu58Glu",
"transcript": "NM_022767.4",
"protein_id": "NP_073604.3",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 325,
"cds_start": 174,
"cds_end": null,
"cds_length": 978,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": "ENST00000332810.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEN",
"gene_hgnc_id": 25722,
"hgvs_c": "c.174A>G",
"hgvs_p": "p.Glu58Glu",
"transcript": "ENST00000332810.4",
"protein_id": "ENSP00000331944.3",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 325,
"cds_start": 174,
"cds_end": null,
"cds_length": 978,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": "NM_022767.4",
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEN",
"gene_hgnc_id": 25722,
"hgvs_c": "n.284A>G",
"hgvs_p": null,
"transcript": "ENST00000557787.1",
"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": 1242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEN",
"gene_hgnc_id": 25722,
"hgvs_c": "c.174A>G",
"hgvs_p": "p.Glu58Glu",
"transcript": "ENST00000559528.1",
"protein_id": "ENSP00000453631.1",
"transcript_support_level": 2,
"aa_start": 58,
"aa_end": null,
"aa_length": 178,
"cds_start": 174,
"cds_end": null,
"cds_length": 537,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEN",
"gene_hgnc_id": 25722,
"hgvs_c": "c.174A>G",
"hgvs_p": "p.Glu58Glu",
"transcript": "XM_005254966.2",
"protein_id": "XP_005255023.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 325,
"cds_start": 174,
"cds_end": null,
"cds_length": 978,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 3353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEN",
"gene_hgnc_id": 25722,
"hgvs_c": "c.174A>G",
"hgvs_p": "p.Glu58Glu",
"transcript": "XM_017022489.2",
"protein_id": "XP_016877978.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 325,
"cds_start": 174,
"cds_end": null,
"cds_length": 978,
"cdna_start": 4094,
"cdna_end": null,
"cdna_length": 6885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEN",
"gene_hgnc_id": 25722,
"hgvs_c": "c.174A>G",
"hgvs_p": "p.Glu58Glu",
"transcript": "XM_047432946.1",
"protein_id": "XP_047288902.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 325,
"cds_start": 174,
"cds_end": null,
"cds_length": 978,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEN",
"gene_hgnc_id": 25722,
"hgvs_c": "c.174A>G",
"hgvs_p": "p.Glu58Glu",
"transcript": "XM_047432947.1",
"protein_id": "XP_047288903.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 325,
"cds_start": 174,
"cds_end": null,
"cds_length": 978,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 3780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEN",
"gene_hgnc_id": 25722,
"hgvs_c": "c.174A>G",
"hgvs_p": "p.Glu58Glu",
"transcript": "XM_006720645.4",
"protein_id": "XP_006720708.2",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 247,
"cds_start": 174,
"cds_end": null,
"cds_length": 744,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 3075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEN",
"gene_hgnc_id": 25722,
"hgvs_c": "c.174A>G",
"hgvs_p": "p.Glu58Glu",
"transcript": "XM_047432945.1",
"protein_id": "XP_047288901.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 247,
"cds_start": 174,
"cds_end": null,
"cds_length": 744,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 3356,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEN",
"gene_hgnc_id": 25722,
"hgvs_c": "n.655A>G",
"hgvs_p": null,
"transcript": "ENST00000558327.1",
"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": 883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEN",
"gene_hgnc_id": 25722,
"hgvs_c": "n.-229A>G",
"hgvs_p": null,
"transcript": "ENST00000557927.1",
"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": 5039,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AEN",
"gene_hgnc_id": 25722,
"hgvs_c": "n.*204A>G",
"hgvs_p": null,
"transcript": "ENST00000560174.1",
"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": 461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AEN",
"gene_hgnc_id": 25722,
"dbsnp": "rs3743476",
"frequency_reference_population": 0.32366985,
"hom_count_reference_population": 89739,
"allele_count_reference_population": 521548,
"gnomad_exomes_af": 0.32921,
"gnomad_genomes_af": 0.27055,
"gnomad_exomes_ac": 480373,
"gnomad_genomes_ac": 41175,
"gnomad_exomes_homalt": 82992,
"gnomad_genomes_homalt": 6747,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"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": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.015,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000332810.4",
"gene_symbol": "AEN",
"hgnc_id": 25722,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.174A>G",
"hgvs_p": "p.Glu58Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}