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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: 10-84200638-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=84200638&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 84200638,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000623527.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Glu",
"transcript": "NM_033100.4",
"protein_id": "NP_149091.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 859,
"cds_start": 476,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 6877,
"mane_select": "ENST00000623527.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Glu",
"transcript": "ENST00000623527.4",
"protein_id": "ENSP00000485478.1",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 859,
"cds_start": 476,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 6877,
"mane_select": "NM_033100.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Glu",
"transcript": "ENST00000332904.7",
"protein_id": "ENSP00000331063.3",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 745,
"cds_start": 476,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Glu",
"transcript": "NM_001171971.3",
"protein_id": "NP_001165442.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 745,
"cds_start": 476,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.650C>A",
"hgvs_p": "p.Ala217Glu",
"transcript": "XM_011540337.2",
"protein_id": "XP_011538639.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 917,
"cds_start": 650,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 7555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.650C>A",
"hgvs_p": "p.Ala217Glu",
"transcript": "XM_011540338.2",
"protein_id": "XP_011538640.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 803,
"cds_start": 650,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.97C>A",
"hgvs_p": "p.Gln33Lys",
"transcript": "XM_011540339.2",
"protein_id": "XP_011538641.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 710,
"cds_start": 97,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 6290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.650C>A",
"hgvs_p": "p.Ala217Glu",
"transcript": "XM_011540340.4",
"protein_id": "XP_011538642.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 656,
"cds_start": 650,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"hgvs_c": "c.-248C>A",
"hgvs_p": null,
"transcript": "XM_047425997.1",
"protein_id": "XP_047281953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 618,
"cds_start": -4,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDHR1",
"gene_hgnc_id": 14550,
"dbsnp": "rs763399323",
"frequency_reference_population": 6.8496996e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8497e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9900356531143188,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.671,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9772,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.537,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000623527.4",
"gene_symbol": "CDHR1",
"hgnc_id": 14550,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Glu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}