← 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: 1-204434531-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=204434531&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 204434531,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000684373.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2B",
"gene_hgnc_id": 8972,
"hgvs_c": "c.3594T>G",
"hgvs_p": "p.Asn1198Lys",
"transcript": "NM_001377334.1",
"protein_id": "NP_001364263.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1634,
"cds_start": 3594,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 4128,
"cdna_end": null,
"cdna_length": 7658,
"mane_select": "ENST00000684373.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2B",
"gene_hgnc_id": 8972,
"hgvs_c": "c.3594T>G",
"hgvs_p": "p.Asn1198Lys",
"transcript": "ENST00000684373.1",
"protein_id": "ENSP00000507222.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1634,
"cds_start": 3594,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 4128,
"cdna_end": null,
"cdna_length": 7658,
"mane_select": "NM_001377334.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2B",
"gene_hgnc_id": 8972,
"hgvs_c": "c.3594T>G",
"hgvs_p": "p.Asn1198Lys",
"transcript": "ENST00000367187.7",
"protein_id": "ENSP00000356155.3",
"transcript_support_level": 1,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1634,
"cds_start": 3594,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 4151,
"cdna_end": null,
"cdna_length": 7686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2B",
"gene_hgnc_id": 8972,
"hgvs_c": "c.3510T>G",
"hgvs_p": "p.Asn1170Lys",
"transcript": "ENST00000424712.6",
"protein_id": "ENSP00000400561.2",
"transcript_support_level": 1,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1606,
"cds_start": 3510,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 3989,
"cdna_end": null,
"cdna_length": 7522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2B",
"gene_hgnc_id": 8972,
"hgvs_c": "c.3594T>G",
"hgvs_p": "p.Asn1198Lys",
"transcript": "NM_002646.4",
"protein_id": "NP_002637.3",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1634,
"cds_start": 3594,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 4927,
"cdna_end": null,
"cdna_length": 8457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2B",
"gene_hgnc_id": 8972,
"hgvs_c": "c.3510T>G",
"hgvs_p": "p.Asn1170Lys",
"transcript": "NM_001377335.1",
"protein_id": "NP_001364264.1",
"transcript_support_level": null,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1606,
"cds_start": 3510,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 4843,
"cdna_end": null,
"cdna_length": 8373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2B",
"gene_hgnc_id": 8972,
"hgvs_c": "n.3009T>G",
"hgvs_p": null,
"transcript": "ENST00000683234.1",
"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": 5237,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R15B-AS1",
"gene_hgnc_id": 55838,
"hgvs_c": "n.147-806A>C",
"hgvs_p": null,
"transcript": "ENST00000443515.1",
"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": 486,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R15B-AS1",
"gene_hgnc_id": 55838,
"hgvs_c": "n.155-806A>C",
"hgvs_p": null,
"transcript": "ENST00000775926.1",
"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": 608,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R15B-AS1",
"gene_hgnc_id": 55838,
"hgvs_c": "n.350-806A>C",
"hgvs_p": null,
"transcript": "ENST00000775927.1",
"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": 683,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R15B-AS1",
"gene_hgnc_id": 55838,
"hgvs_c": "n.176-806A>C",
"hgvs_p": null,
"transcript": "ENST00000775928.1",
"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": 472,
"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": "PPP1R15B-AS1",
"gene_hgnc_id": 55838,
"hgvs_c": "n.346-353A>C",
"hgvs_p": null,
"transcript": "ENST00000775929.1",
"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": 570,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPP1R15B-AS1",
"gene_hgnc_id": 55838,
"hgvs_c": "n.443-353A>C",
"hgvs_p": null,
"transcript": "ENST00000775930.1",
"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": 665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PIK3C2B",
"gene_hgnc_id": 8972,
"dbsnp": "rs3747636",
"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": 0.9630155563354492,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.577,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.98,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000684373.1",
"gene_symbol": "PIK3C2B",
"hgnc_id": 8972,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3594T>G",
"hgvs_p": "p.Asn1198Lys"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000443515.1",
"gene_symbol": "PPP1R15B-AS1",
"hgnc_id": 55838,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.147-806A>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
}