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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: 3-47572696-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47572696&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47572696,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001206943.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPG5",
"gene_hgnc_id": 2467,
"hgvs_c": "c.1372C>A",
"hgvs_p": "p.Arg458Ser",
"transcript": "NM_006574.4",
"protein_id": "NP_006565.2",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 539,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264723.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006574.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPG5",
"gene_hgnc_id": 2467,
"hgvs_c": "c.1372C>A",
"hgvs_p": "p.Arg458Ser",
"transcript": "ENST00000264723.9",
"protein_id": "ENSP00000264723.4",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 539,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006574.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264723.9"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPG5",
"gene_hgnc_id": 2467,
"hgvs_c": "c.1372C>A",
"hgvs_p": "p.Arg458Ser",
"transcript": "ENST00000383738.6",
"protein_id": "ENSP00000373244.2",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 566,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383738.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPG5",
"gene_hgnc_id": 2467,
"hgvs_c": "c.958C>A",
"hgvs_p": "p.Arg320Ser",
"transcript": "ENST00000456150.5",
"protein_id": "ENSP00000392096.1",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 401,
"cds_start": 958,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456150.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPG5",
"gene_hgnc_id": 2467,
"hgvs_c": "c.1372C>A",
"hgvs_p": "p.Arg458Ser",
"transcript": "NM_001206943.2",
"protein_id": "NP_001193872.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 566,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206943.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPG5",
"gene_hgnc_id": 2467,
"hgvs_c": "c.1372C>A",
"hgvs_p": "p.Arg458Ser",
"transcript": "NM_001206944.2",
"protein_id": "NP_001193873.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 477,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206944.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPG5",
"gene_hgnc_id": 2467,
"hgvs_c": "c.1372C>A",
"hgvs_p": "p.Arg458Ser",
"transcript": "ENST00000610462.1",
"protein_id": "ENSP00000478923.1",
"transcript_support_level": 5,
"aa_start": 458,
"aa_end": null,
"aa_length": 477,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610462.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPG5",
"gene_hgnc_id": 2467,
"hgvs_c": "c.958C>A",
"hgvs_p": "p.Arg320Ser",
"transcript": "NM_001206945.2",
"protein_id": "NP_001193874.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 428,
"cds_start": 958,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206945.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPG5",
"gene_hgnc_id": 2467,
"hgvs_c": "c.958C>A",
"hgvs_p": "p.Arg320Ser",
"transcript": "NM_001206942.2",
"protein_id": "NP_001193871.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 401,
"cds_start": 958,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206942.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPG5",
"gene_hgnc_id": 2467,
"hgvs_c": "c.958C>A",
"hgvs_p": "p.Arg320Ser",
"transcript": "XM_047447332.1",
"protein_id": "XP_047303288.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 401,
"cds_start": 958,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447332.1"
}
],
"gene_symbol": "CSPG5",
"gene_hgnc_id": 2467,
"dbsnp": "rs776965190",
"frequency_reference_population": 6.8416017e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8416e-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": 0.865986704826355,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.279,
"revel_prediction": "Benign",
"alphamissense_score": 0.9596,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.223,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001206943.2",
"gene_symbol": "CSPG5",
"hgnc_id": 2467,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1372C>A",
"hgvs_p": "p.Arg458Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}