← 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: 10-95238079-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95238079&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 95238079,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020992.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM1",
"gene_hgnc_id": 2067,
"hgvs_c": "c.836G>A",
"hgvs_p": "p.Arg279His",
"transcript": "NM_020992.4",
"protein_id": "NP_066272.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 329,
"cds_start": 836,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000329399.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020992.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM1",
"gene_hgnc_id": 2067,
"hgvs_c": "c.836G>A",
"hgvs_p": "p.Arg279His",
"transcript": "ENST00000329399.7",
"protein_id": "ENSP00000360305.3",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 329,
"cds_start": 836,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020992.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329399.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM1",
"gene_hgnc_id": 2067,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296His",
"transcript": "ENST00000956300.1",
"protein_id": "ENSP00000626359.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 346,
"cds_start": 887,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956300.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM1",
"gene_hgnc_id": 2067,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278His",
"transcript": "ENST00000862799.1",
"protein_id": "ENSP00000532858.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 328,
"cds_start": 833,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862799.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM1",
"gene_hgnc_id": 2067,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "ENST00000956301.1",
"protein_id": "ENSP00000626360.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 322,
"cds_start": 815,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956301.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM1",
"gene_hgnc_id": 2067,
"hgvs_c": "c.743G>A",
"hgvs_p": "p.Arg248His",
"transcript": "ENST00000862800.1",
"protein_id": "ENSP00000532859.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 298,
"cds_start": 743,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862800.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM1",
"gene_hgnc_id": 2067,
"hgvs_c": "n.781G>A",
"hgvs_p": null,
"transcript": "ENST00000477757.5",
"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": "pseudogene",
"feature": "ENST00000477757.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM1",
"gene_hgnc_id": 2067,
"hgvs_c": "n.314G>A",
"hgvs_p": null,
"transcript": "ENST00000492511.1",
"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": "pseudogene",
"feature": "ENST00000492511.1"
}
],
"gene_symbol": "PDLIM1",
"gene_hgnc_id": 2067,
"dbsnp": "rs370809135",
"frequency_reference_population": 0.000045853594,
"hom_count_reference_population": 0,
"allele_count_reference_population": 74,
"gnomad_exomes_af": 0.0000492574,
"gnomad_genomes_af": 0.0000131472,
"gnomad_exomes_ac": 72,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5554122924804688,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.48,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2118,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.795,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020992.4",
"gene_symbol": "PDLIM1",
"hgnc_id": 2067,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.836G>A",
"hgvs_p": "p.Arg279His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}