← 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: 4-15599527-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=15599527&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5_Moderate"
],
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"gene_symbol": "CC2D2A",
"hgnc_id": 29253,
"hgvs_c": "c.4497-2A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001080522.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Moderate,PM2,PP5_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.11,
"chr": "4",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.10999999940395355,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1620,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5184,
"cdna_start": null,
"cds_end": null,
"cds_length": 4863,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378615.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.4497-2A>G",
"hgvs_p": null,
"intron_rank": 35,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000424120.6",
"protein_coding": true,
"protein_id": "NP_001365544.1",
"strand": true,
"transcript": "NM_001378615.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1620,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5184,
"cdna_start": null,
"cds_end": null,
"cds_length": 4863,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424120.6",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.4497-2A>G",
"hgvs_p": null,
"intron_rank": 35,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378615.1",
"protein_coding": true,
"protein_id": "ENSP00000403465.1",
"strand": true,
"transcript": "ENST00000424120.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1620,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5226,
"cdna_start": null,
"cds_end": null,
"cds_length": 4863,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000503292.6",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.4497-2A>G",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421809.1",
"strand": true,
"transcript": "ENST00000503292.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4784,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000634028.2",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.*55-2A>G",
"hgvs_p": null,
"intron_rank": 32,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000488669.2",
"strand": true,
"transcript": "ENST00000634028.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1632,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5044,
"cdna_start": null,
"cds_end": null,
"cds_length": 4899,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000389652.11",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.4533-2A>G",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000374303.8",
"strand": true,
"transcript": "ENST00000389652.11",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1627,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5193,
"cdna_start": null,
"cds_end": null,
"cds_length": 4884,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951218.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.4518-2A>G",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621277.1",
"strand": true,
"transcript": "ENST00000951218.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1620,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": null,
"cds_end": null,
"cds_length": 4863,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001080522.2",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.4497-2A>G",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073991.2",
"strand": true,
"transcript": "NM_001080522.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1620,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5706,
"cdna_start": null,
"cds_end": null,
"cds_length": 4863,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860661.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.4497-2A>G",
"hgvs_p": null,
"intron_rank": 35,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530720.1",
"strand": true,
"transcript": "ENST00000860661.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1617,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5157,
"cdna_start": null,
"cds_end": null,
"cds_length": 4854,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951219.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.4488-2A>G",
"hgvs_p": null,
"intron_rank": 35,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621278.1",
"strand": true,
"transcript": "ENST00000951219.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1573,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5042,
"cdna_start": null,
"cds_end": null,
"cds_length": 4722,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860662.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.4356-2A>G",
"hgvs_p": null,
"intron_rank": 34,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530721.1",
"strand": true,
"transcript": "ENST00000860662.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1571,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4984,
"cdna_start": null,
"cds_end": null,
"cds_length": 4716,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378617.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.4350-2A>G",
"hgvs_p": null,
"intron_rank": 33,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365546.1",
"strand": true,
"transcript": "NM_001378617.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1571,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4989,
"cdna_start": null,
"cds_end": null,
"cds_length": 4716,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000506643.5",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.4350-2A>G",
"hgvs_p": null,
"intron_rank": 33,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422931.2",
"strand": true,
"transcript": "ENST00000506643.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1512,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4809,
"cdna_start": null,
"cds_end": null,
"cds_length": 4539,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674945.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.4173-2A>G",
"hgvs_p": null,
"intron_rank": 32,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502333.1",
"strand": true,
"transcript": "ENST00000674945.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 322,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 969,
"cdna_start": null,
"cds_end": null,
"cds_length": 969,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000514039.6",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.603-2A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000488534.2",
"strand": true,
"transcript": "ENST00000514039.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 406,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000513035.2",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.396-2A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000513035.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5513,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000650860.2",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.*1994-2A>G",
"hgvs_p": null,
"intron_rank": 34,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498775.1",
"strand": true,
"transcript": "ENST00000650860.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6514,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680586.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.5156-2A>G",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000680586.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999954785339841,
"dbsnp": "rs1553845569",
"effect": "splice_acceptor_variant,intron_variant",
"frequency_reference_population": 7.2451166e-7,
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 7.24512e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely pathogenic",
"phenotype_combined": "Inborn genetic diseases",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.697,
"pos": 15599527,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Pathogenic",
"splice_score_selected": 0.9079999923706055,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Pathogenic",
"spliceai_max_score": 0.97,
"transcript": "NM_001080522.2"
}
]
}