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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: 6-31667889-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31667889&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31667889,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001320.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2B",
"gene_hgnc_id": 2460,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001320.7",
"protein_id": "NP_001311.3",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 215,
"cds_start": 94,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375882.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2B",
"gene_hgnc_id": 2460,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "ENST00000375882.7",
"protein_id": "ENSP00000365042.3",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 215,
"cds_start": 94,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001320.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375882.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000263020",
"gene_hgnc_id": null,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "ENST00000617558.2",
"protein_id": "ENSP00000483989.2",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 304,
"cds_start": 94,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617558.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000263020",
"gene_hgnc_id": null,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "ENST00000375880.6",
"protein_id": "ENSP00000365040.2",
"transcript_support_level": 3,
"aa_start": 32,
"aa_end": null,
"aa_length": 228,
"cds_start": 94,
"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": "ENST00000375880.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2B",
"gene_hgnc_id": 2460,
"hgvs_c": "n.227G>A",
"hgvs_p": null,
"transcript": "ENST00000465481.6",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000465481.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2B",
"gene_hgnc_id": 2460,
"hgvs_c": "n.1177G>A",
"hgvs_p": null,
"transcript": "ENST00000475875.2",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000475875.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2B",
"gene_hgnc_id": 2460,
"hgvs_c": "c.151G>A",
"hgvs_p": "p.Asp51Asn",
"transcript": "ENST00000375885.8",
"protein_id": "ENSP00000365046.4",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 234,
"cds_start": 151,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375885.8"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2B",
"gene_hgnc_id": 2460,
"hgvs_c": "c.151G>A",
"hgvs_p": "p.Asp51Asn",
"transcript": "ENST00000677536.1",
"protein_id": "ENSP00000502967.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 231,
"cds_start": 151,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677536.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2B",
"gene_hgnc_id": 2460,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "ENST00000375865.6",
"protein_id": "ENSP00000365025.2",
"transcript_support_level": 3,
"aa_start": 32,
"aa_end": null,
"aa_length": 215,
"cds_start": 94,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375865.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2B",
"gene_hgnc_id": 2460,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "ENST00000375866.2",
"protein_id": "ENSP00000365026.2",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 215,
"cds_start": 94,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375866.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2B",
"gene_hgnc_id": 2460,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001282385.2",
"protein_id": "NP_001269314.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 212,
"cds_start": 94,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282385.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2B",
"gene_hgnc_id": 2460,
"hgvs_c": "n.233G>A",
"hgvs_p": null,
"transcript": "ENST00000468255.5",
"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": "retained_intron",
"feature": "ENST00000468255.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2B",
"gene_hgnc_id": 2460,
"hgvs_c": "n.220G>A",
"hgvs_p": null,
"transcript": "ENST00000481269.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000481269.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2B",
"gene_hgnc_id": 2460,
"hgvs_c": "n.151G>A",
"hgvs_p": null,
"transcript": "ENST00000677388.1",
"protein_id": "ENSP00000504290.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000677388.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2B",
"gene_hgnc_id": 2460,
"hgvs_c": "n.151G>A",
"hgvs_p": null,
"transcript": "ENST00000677758.1",
"protein_id": "ENSP00000504242.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000677758.1"
}
],
"gene_symbol": "CSNK2B",
"gene_hgnc_id": 2460,
"dbsnp": "rs1554169984",
"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": 0.9739501476287842,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.691,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9995,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.121,
"phylop100way_prediction": "Pathogenic",
"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": 19,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 19,
"benign_score": 0,
"pathogenic_score": 19,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001320.7",
"gene_symbol": "CSNK2B",
"hgnc_id": 2460,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn"
},
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000617558.2",
"gene_symbol": "ENSG00000263020",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn"
}
],
"clinvar_disease": "12 conditions,CSNK2B-related disorder,Inborn genetic diseases,Poirier-Bienvenu neurodevelopmental syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:1",
"phenotype_combined": "Inborn genetic diseases|12 conditions|not provided|CSNK2B-related disorder|Poirier-Bienvenu neurodevelopmental syndrome",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}