← 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: 6-22292638-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=22292638&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 22292638,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000948.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"hgvs_c": "c.212G>T",
"hgvs_p": "p.Arg71Leu",
"transcript": "NM_000948.6",
"protein_id": "NP_000939.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 227,
"cds_start": 212,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306482.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000948.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"hgvs_c": "c.212G>T",
"hgvs_p": "p.Arg71Leu",
"transcript": "ENST00000306482.2",
"protein_id": "ENSP00000302150.1",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 227,
"cds_start": 212,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000948.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306482.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"hgvs_c": "c.215G>T",
"hgvs_p": "p.Arg72Leu",
"transcript": "ENST00000617911.4",
"protein_id": "ENSP00000480195.1",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 228,
"cds_start": 215,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617911.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"hgvs_c": "c.212G>T",
"hgvs_p": "p.Arg71Leu",
"transcript": "NM_001163558.3",
"protein_id": "NP_001157030.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 227,
"cds_start": 212,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163558.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"hgvs_c": "c.212G>T",
"hgvs_p": "p.Arg71Leu",
"transcript": "ENST00000651757.1",
"protein_id": "ENSP00000499154.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 167,
"cds_start": 212,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651757.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"hgvs_c": "c.212G>T",
"hgvs_p": "p.Arg71Leu",
"transcript": "ENST00000651245.1",
"protein_id": "ENSP00000498773.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 149,
"cds_start": 212,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651245.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"hgvs_c": "c.215G>T",
"hgvs_p": "p.Arg72Leu",
"transcript": "XM_011514753.3",
"protein_id": "XP_011513055.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 228,
"cds_start": 215,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514753.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"hgvs_c": "c.215G>T",
"hgvs_p": "p.Arg72Leu",
"transcript": "XM_011514754.3",
"protein_id": "XP_011513056.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 228,
"cds_start": 215,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514754.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"hgvs_c": "c.215G>T",
"hgvs_p": "p.Arg72Leu",
"transcript": "XM_047419075.1",
"protein_id": "XP_047275031.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 228,
"cds_start": 215,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419075.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"hgvs_c": "c.212G>T",
"hgvs_p": "p.Arg71Leu",
"transcript": "XM_047419076.1",
"protein_id": "XP_047275032.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 227,
"cds_start": 212,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419076.1"
},
{
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CASC15",
"gene_hgnc_id": 28245,
"hgvs_c": "n.569+1650C>A",
"hgvs_p": null,
"transcript": "ENST00000561912.3",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000561912.3"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CASC15",
"gene_hgnc_id": 28245,
"hgvs_c": "n.505+1650C>A",
"hgvs_p": null,
"transcript": "ENST00000651569.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000651569.1"
}
],
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"dbsnp": "rs140506129",
"frequency_reference_population": 0.0000031013444,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273937,
"gnomad_genomes_af": 0.00000657825,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6237962245941162,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.411,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1799,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.485,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000948.6",
"gene_symbol": "PRL",
"hgnc_id": 9445,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.212G>T",
"hgvs_p": "p.Arg71Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000651569.1",
"gene_symbol": "CASC15",
"hgnc_id": 28245,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.505+1650C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}