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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: 10-59245484-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=59245484&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 59245484,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000373880.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"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": "PHYHIPL",
"gene_hgnc_id": 29378,
"hgvs_c": "c.1024G>C",
"hgvs_p": "p.Val342Leu",
"transcript": "NM_032439.4",
"protein_id": "NP_115815.2",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 376,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 3521,
"mane_select": "ENST00000373880.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"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": "PHYHIPL",
"gene_hgnc_id": 29378,
"hgvs_c": "c.1024G>C",
"hgvs_p": "p.Val342Leu",
"transcript": "ENST00000373880.9",
"protein_id": "ENSP00000362987.4",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 376,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 3521,
"mane_select": "NM_032439.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "PHYHIPL",
"gene_hgnc_id": 29378,
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Val316Leu",
"transcript": "ENST00000373878.3",
"protein_id": "ENSP00000362985.3",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 350,
"cds_start": 946,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "PHYHIPL",
"gene_hgnc_id": 29378,
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Val316Leu",
"transcript": "NM_001143774.2",
"protein_id": "NP_001137246.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 350,
"cds_start": 946,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 3659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIPL",
"gene_hgnc_id": 29378,
"hgvs_c": "c.886G>C",
"hgvs_p": "p.Val296Leu",
"transcript": "XM_011540275.4",
"protein_id": "XP_011538577.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 330,
"cds_start": 886,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "PHYHIPL",
"gene_hgnc_id": 29378,
"hgvs_c": "c.886G>C",
"hgvs_p": "p.Val296Leu",
"transcript": "XM_011540276.4",
"protein_id": "XP_011538578.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 330,
"cds_start": 886,
"cds_end": null,
"cds_length": 993,
"cdna_start": 3397,
"cdna_end": null,
"cdna_length": 5683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIPL",
"gene_hgnc_id": 29378,
"hgvs_c": "c.886G>C",
"hgvs_p": "p.Val296Leu",
"transcript": "XM_017016782.2",
"protein_id": "XP_016872271.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 330,
"cds_start": 886,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIPL",
"gene_hgnc_id": 29378,
"hgvs_c": "c.886G>C",
"hgvs_p": "p.Val296Leu",
"transcript": "XM_017016783.3",
"protein_id": "XP_016872272.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 330,
"cds_start": 886,
"cds_end": null,
"cds_length": 993,
"cdna_start": 3488,
"cdna_end": null,
"cdna_length": 5774,
"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": "PHYHIPL",
"gene_hgnc_id": 29378,
"hgvs_c": "n.*965G>C",
"hgvs_p": null,
"transcript": "ENST00000486074.2",
"protein_id": "ENSP00000423634.1",
"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": 1971,
"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": "PHYHIPL",
"gene_hgnc_id": 29378,
"hgvs_c": "n.*965G>C",
"hgvs_p": null,
"transcript": "ENST00000486074.2",
"protein_id": "ENSP00000423634.1",
"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": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PHYHIPL",
"gene_hgnc_id": 29378,
"dbsnp": "rs2452505",
"frequency_reference_population": 0.8233045,
"hom_count_reference_population": 552085,
"allele_count_reference_population": 1328736,
"gnomad_exomes_af": 0.829784,
"gnomad_genomes_af": 0.761029,
"gnomad_exomes_ac": 1212985,
"gnomad_genomes_ac": 115751,
"gnomad_exomes_homalt": 506323,
"gnomad_genomes_homalt": 45762,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000021492385258170543,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": 0.0458,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.582,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000373880.9",
"gene_symbol": "PHYHIPL",
"hgnc_id": 29378,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1024G>C",
"hgvs_p": "p.Val342Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}