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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: 10-132726835-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=132726835&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 132726835,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005539.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5A",
"gene_hgnc_id": 6076,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221Gln",
"transcript": "NM_005539.5",
"protein_id": "NP_005530.3",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 412,
"cds_start": 662,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 3000,
"mane_select": "ENST00000368594.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5A",
"gene_hgnc_id": 6076,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221Gln",
"transcript": "ENST00000368594.8",
"protein_id": "ENSP00000357583.3",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 412,
"cds_start": 662,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 3000,
"mane_select": "NM_005539.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5A",
"gene_hgnc_id": 6076,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221Gln",
"transcript": "ENST00000368593.7",
"protein_id": "ENSP00000357582.3",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 387,
"cds_start": 662,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 1432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5A",
"gene_hgnc_id": 6076,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157Gln",
"transcript": "NM_001321042.2",
"protein_id": "NP_001307971.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 348,
"cds_start": 470,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5A",
"gene_hgnc_id": 6076,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"transcript": "ENST00000342652.6",
"protein_id": "ENSP00000340707.6",
"transcript_support_level": 5,
"aa_start": 192,
"aa_end": null,
"aa_length": 276,
"cds_start": 575,
"cds_end": null,
"cds_length": 831,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5A",
"gene_hgnc_id": 6076,
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163Gln",
"transcript": "XM_017016204.2",
"protein_id": "XP_016871693.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 354,
"cds_start": 488,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5A",
"gene_hgnc_id": 6076,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221Gln",
"transcript": "XM_017016205.2",
"protein_id": "XP_016871694.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 307,
"cds_start": 662,
"cds_end": null,
"cds_length": 924,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5A",
"gene_hgnc_id": 6076,
"hgvs_c": "n.356G>A",
"hgvs_p": null,
"transcript": "ENST00000487614.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5A",
"gene_hgnc_id": 6076,
"hgvs_c": "n.124G>A",
"hgvs_p": null,
"transcript": "ENST00000498337.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5A",
"gene_hgnc_id": 6076,
"hgvs_c": "n.972G>A",
"hgvs_p": null,
"transcript": "XR_001747104.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5A",
"gene_hgnc_id": 6076,
"hgvs_c": "n.972G>A",
"hgvs_p": null,
"transcript": "XR_007061962.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5A",
"gene_hgnc_id": 6076,
"hgvs_c": "n.972G>A",
"hgvs_p": null,
"transcript": "XR_007061963.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5A",
"gene_hgnc_id": 6076,
"hgvs_c": "n.972G>A",
"hgvs_p": null,
"transcript": "XR_945735.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293889",
"gene_hgnc_id": null,
"hgvs_c": "n.81-1741C>T",
"hgvs_p": null,
"transcript": "ENST00000719654.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "INPP5A",
"gene_hgnc_id": 6076,
"dbsnp": "rs140446601",
"frequency_reference_population": 0.0000692367,
"hom_count_reference_population": 0,
"allele_count_reference_population": 111,
"gnomad_exomes_af": 0.0000351502,
"gnomad_genomes_af": 0.000394016,
"gnomad_exomes_ac": 51,
"gnomad_genomes_ac": 60,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3028180003166199,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.487,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1699,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.345,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_005539.5",
"gene_symbol": "INPP5A",
"hgnc_id": 6076,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221Gln"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000719654.1",
"gene_symbol": "ENSG00000293889",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.81-1741C>T",
"hgvs_p": null
}
],
"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
}