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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: 1-145849471-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=145849471&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 145849471,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006099.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS3",
"gene_hgnc_id": 16861,
"hgvs_c": "c.1862G>A",
"hgvs_p": "p.Arg621Gln",
"transcript": "NM_006099.3",
"protein_id": "NP_006090.2",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 628,
"cds_start": 1862,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393045.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006099.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS3",
"gene_hgnc_id": 16861,
"hgvs_c": "c.1862G>A",
"hgvs_p": "p.Arg621Gln",
"transcript": "ENST00000393045.7",
"protein_id": "ENSP00000376765.2",
"transcript_support_level": 1,
"aa_start": 621,
"aa_end": null,
"aa_length": 628,
"cds_start": 1862,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006099.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393045.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS3",
"gene_hgnc_id": 16861,
"hgvs_c": "n.1730G>A",
"hgvs_p": null,
"transcript": "ENST00000475261.1",
"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": "ENST00000475261.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS3",
"gene_hgnc_id": 16861,
"hgvs_c": "c.1856G>A",
"hgvs_p": "p.Arg619Gln",
"transcript": "ENST00000948928.1",
"protein_id": "ENSP00000618987.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 626,
"cds_start": 1856,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948928.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS3",
"gene_hgnc_id": 16861,
"hgvs_c": "c.1841G>A",
"hgvs_p": "p.Arg614Gln",
"transcript": "ENST00000867627.1",
"protein_id": "ENSP00000537686.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 621,
"cds_start": 1841,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867627.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS3",
"gene_hgnc_id": 16861,
"hgvs_c": "c.1805G>A",
"hgvs_p": "p.Arg602Gln",
"transcript": "ENST00000948929.1",
"protein_id": "ENSP00000618988.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 609,
"cds_start": 1805,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948929.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS3",
"gene_hgnc_id": 16861,
"hgvs_c": "c.1757G>A",
"hgvs_p": "p.Arg586Gln",
"transcript": "ENST00000369298.5",
"protein_id": "ENSP00000358304.1",
"transcript_support_level": 5,
"aa_start": 586,
"aa_end": null,
"aa_length": 593,
"cds_start": 1757,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369298.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS3",
"gene_hgnc_id": 16861,
"hgvs_c": "c.1295G>A",
"hgvs_p": "p.Arg432Gln",
"transcript": "ENST00000867628.1",
"protein_id": "ENSP00000537687.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 439,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867628.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIAS3",
"gene_hgnc_id": 16861,
"hgvs_c": "n.1437G>A",
"hgvs_p": null,
"transcript": "ENST00000472114.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000472114.5"
}
],
"gene_symbol": "PIAS3",
"gene_hgnc_id": 16861,
"dbsnp": "rs782819366",
"frequency_reference_population": 0.000007291838,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000663558,
"gnomad_genomes_af": 0.0000131396,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18991237878799438,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.1213,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.55,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_006099.3",
"gene_symbol": "PIAS3",
"hgnc_id": 16861,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1862G>A",
"hgvs_p": "p.Arg621Gln"
}
],
"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
}