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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: 6-22290279-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=22290279&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 22290279,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_000948.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.387A>G",
"hgvs_p": "p.Glu129Glu",
"transcript": "NM_000948.6",
"protein_id": "NP_000939.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 227,
"cds_start": 387,
"cds_end": null,
"cds_length": 684,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 894,
"mane_select": "ENST00000306482.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.387A>G",
"hgvs_p": "p.Glu129Glu",
"transcript": "ENST00000306482.2",
"protein_id": "ENSP00000302150.1",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 227,
"cds_start": 387,
"cds_end": null,
"cds_length": 684,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 894,
"mane_select": "NM_000948.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.390A>G",
"hgvs_p": "p.Glu130Glu",
"transcript": "ENST00000617911.4",
"protein_id": "ENSP00000480195.1",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 228,
"cds_start": 390,
"cds_end": null,
"cds_length": 687,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 1364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Glu129Glu",
"transcript": "NM_001163558.3",
"protein_id": "NP_001157030.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 227,
"cds_start": 387,
"cds_end": null,
"cds_length": 684,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 1013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Glu129Glu",
"transcript": "ENST00000651245.1",
"protein_id": "ENSP00000498773.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 149,
"cds_start": 387,
"cds_end": null,
"cds_length": 450,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"hgvs_c": "c.390A>G",
"hgvs_p": "p.Glu130Glu",
"transcript": "XM_011514753.3",
"protein_id": "XP_011513055.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 228,
"cds_start": 390,
"cds_end": null,
"cds_length": 687,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"hgvs_c": "c.390A>G",
"hgvs_p": "p.Glu130Glu",
"transcript": "XM_011514754.3",
"protein_id": "XP_011513056.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 228,
"cds_start": 390,
"cds_end": null,
"cds_length": 687,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 1029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"hgvs_c": "c.390A>G",
"hgvs_p": "p.Glu130Glu",
"transcript": "XM_047419075.1",
"protein_id": "XP_047275031.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 228,
"cds_start": 390,
"cds_end": null,
"cds_length": 687,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 1064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Glu129Glu",
"transcript": "XM_047419076.1",
"protein_id": "XP_047275032.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 227,
"cds_start": 387,
"cds_end": null,
"cds_length": 684,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"hgvs_c": "c.312+2259A>G",
"hgvs_p": null,
"transcript": "ENST00000651757.1",
"protein_id": "ENSP00000499154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 803,
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CASC15",
"gene_hgnc_id": 28245,
"hgvs_c": "n.459-599T>C",
"hgvs_p": null,
"transcript": "ENST00000561912.3",
"protein_id": null,
"transcript_support_level": 5,
"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": 1484,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CASC15",
"gene_hgnc_id": 28245,
"hgvs_c": "n.376-580T>C",
"hgvs_p": null,
"transcript": "ENST00000651569.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRL",
"gene_hgnc_id": 9445,
"dbsnp": "rs965515434",
"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": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.706,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_000948.6",
"gene_symbol": "PRL",
"hgnc_id": 9445,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Glu129Glu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000651569.1",
"gene_symbol": "CASC15",
"hgnc_id": 28245,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.376-580T>C",
"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
}