← 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: 11-19182739-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=19182739&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 19182739,
"ref": "A",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_003476.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.516T>A",
"hgvs_p": "p.Tyr172*",
"transcript": "NM_003476.5",
"protein_id": "NP_003467.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 194,
"cds_start": 516,
"cds_end": null,
"cds_length": 585,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": "ENST00000265968.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.516T>A",
"hgvs_p": "p.Tyr172*",
"transcript": "ENST00000265968.9",
"protein_id": "ENSP00000265968.3",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 194,
"cds_start": 516,
"cds_end": null,
"cds_length": 585,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": "NM_003476.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.516T>A",
"hgvs_p": "p.Tyr172*",
"transcript": "ENST00000533783.2",
"protein_id": "ENSP00000431813.1",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 194,
"cds_start": 516,
"cds_end": null,
"cds_length": 585,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.516T>A",
"hgvs_p": "p.Tyr172*",
"transcript": "ENST00000649235.1",
"protein_id": "ENSP00000497388.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 194,
"cds_start": 516,
"cds_end": null,
"cds_length": 585,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 1067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.383T>A",
"hgvs_p": "p.Met128Lys",
"transcript": "ENST00000647990.1",
"protein_id": "ENSP00000496798.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 162,
"cds_start": 383,
"cds_end": null,
"cds_length": 489,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.347T>A",
"hgvs_p": "p.Met116Lys",
"transcript": "NM_001369404.1",
"protein_id": "NP_001356333.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 150,
"cds_start": 347,
"cds_end": null,
"cds_length": 453,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 1114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.347T>A",
"hgvs_p": "p.Met116Lys",
"transcript": "ENST00000649842.1",
"protein_id": "ENSP00000497531.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 150,
"cds_start": 347,
"cds_end": null,
"cds_length": 453,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.*34T>A",
"hgvs_p": null,
"transcript": "ENST00000648719.1",
"protein_id": "ENSP00000497633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": -4,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"dbsnp": "rs727504575",
"frequency_reference_population": 6.844683e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84468e-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": 0.9006751775741577,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.233,
"phylop100way_prediction": "Benign",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Strong",
"PM2"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_003476.5",
"gene_symbol": "CSRP3",
"hgnc_id": 2472,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,SD",
"hgvs_c": "c.516T>A",
"hgvs_p": "p.Tyr172*"
}
],
"clinvar_disease": "Dilated cardiomyopathy 1M,Hypertrophic cardiomyopathy 12",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}