← 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: 15-63305658-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=63305658&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 63305658,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000261879.10",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APH1B",
"gene_hgnc_id": 24080,
"hgvs_c": "c.651T>C",
"hgvs_p": "p.Phe217Phe",
"transcript": "NM_031301.4",
"protein_id": "NP_112591.2",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 257,
"cds_start": 651,
"cds_end": null,
"cds_length": 774,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": "ENST00000261879.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APH1B",
"gene_hgnc_id": 24080,
"hgvs_c": "c.651T>C",
"hgvs_p": "p.Phe217Phe",
"transcript": "ENST00000261879.10",
"protein_id": "ENSP00000261879.5",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 257,
"cds_start": 651,
"cds_end": null,
"cds_length": 774,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": "NM_031301.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APH1B",
"gene_hgnc_id": 24080,
"hgvs_c": "c.528T>C",
"hgvs_p": "p.Phe176Phe",
"transcript": "ENST00000380343.8",
"protein_id": "ENSP00000369700.4",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 216,
"cds_start": 528,
"cds_end": null,
"cds_length": 651,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 685,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APH1B",
"gene_hgnc_id": 24080,
"hgvs_c": "n.*727T>C",
"hgvs_p": null,
"transcript": "ENST00000559971.5",
"protein_id": "ENSP00000453516.1",
"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": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "APH1B",
"gene_hgnc_id": 24080,
"hgvs_c": "n.*727T>C",
"hgvs_p": null,
"transcript": "ENST00000559971.5",
"protein_id": "ENSP00000453516.1",
"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": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"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": "APH1B",
"gene_hgnc_id": 24080,
"hgvs_c": "c.523T>C",
"hgvs_p": "p.Tyr175His",
"transcript": "ENST00000560353.1",
"protein_id": "ENSP00000453327.1",
"transcript_support_level": 3,
"aa_start": 175,
"aa_end": null,
"aa_length": 221,
"cds_start": 523,
"cds_end": null,
"cds_length": 666,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APH1B",
"gene_hgnc_id": 24080,
"hgvs_c": "c.528T>C",
"hgvs_p": "p.Phe176Phe",
"transcript": "NM_001145646.2",
"protein_id": "NP_001139118.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 216,
"cds_start": 528,
"cds_end": null,
"cds_length": 651,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 4015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APH1B",
"gene_hgnc_id": 24080,
"hgvs_c": "c.489T>C",
"hgvs_p": "p.Phe163Phe",
"transcript": "ENST00000560890.5",
"protein_id": "ENSP00000453002.1",
"transcript_support_level": 3,
"aa_start": 163,
"aa_end": null,
"aa_length": 187,
"cds_start": 489,
"cds_end": null,
"cds_length": 566,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APH1B",
"gene_hgnc_id": 24080,
"hgvs_c": "c.489T>C",
"hgvs_p": "p.Phe163Phe",
"transcript": "XM_024450085.2",
"protein_id": "XP_024305853.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 203,
"cds_start": 489,
"cds_end": null,
"cds_length": 612,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 4030,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APH1B",
"gene_hgnc_id": 24080,
"hgvs_c": "n.*469T>C",
"hgvs_p": null,
"transcript": "ENST00000380340.8",
"protein_id": "ENSP00000369697.4",
"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": 872,
"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": "APH1B",
"gene_hgnc_id": 24080,
"hgvs_c": "n.485T>C",
"hgvs_p": null,
"transcript": "ENST00000560716.1",
"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": 731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APH1B",
"gene_hgnc_id": 24080,
"hgvs_c": "n.*469T>C",
"hgvs_p": null,
"transcript": "ENST00000380340.8",
"protein_id": "ENSP00000369697.4",
"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": 872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APH1B",
"gene_hgnc_id": 24080,
"hgvs_c": "n.171-47T>C",
"hgvs_p": null,
"transcript": "ENST00000559823.1",
"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": 376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "APH1B",
"gene_hgnc_id": 24080,
"dbsnp": "rs1047552",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1456998586654663,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.0776,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.041,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000261879.10",
"gene_symbol": "APH1B",
"hgnc_id": 24080,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.651T>C",
"hgvs_p": "p.Phe217Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}