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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: X-48688910-A-ACCACCACCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48688910&ref=A&alt=ACCACCACCG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 48688910,
"ref": "A",
"alt": "ACCACCACCG",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000376701.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "PPPP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1197_1205dupACCGCCACC",
"hgvs_p": "p.Pro400_Pro402dup",
"transcript": "NM_000377.3",
"protein_id": "NP_000368.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 502,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": "ENST00000376701.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PPPP",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1197_1205dupACCGCCACC",
"hgvs_p": "p.Pro400_Pro402dup",
"transcript": "ENST00000376701.5",
"protein_id": "ENSP00000365891.4",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 502,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": "NM_000377.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PPPP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1197_1205dupACCGCCACC",
"hgvs_p": "p.Pro400_Pro402dup",
"transcript": "NM_001438877.1",
"protein_id": "NP_001425806.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 590,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PPPP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1197_1205dupACCGCCACC",
"hgvs_p": "p.Pro400_Pro402dup",
"transcript": "ENST00000698635.1",
"protein_id": "ENSP00000513850.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 590,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PPPP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1041_1049dupACCGCCACC",
"hgvs_p": "p.Pro348_Pro350dup",
"transcript": "NM_001438878.1",
"protein_id": "NP_001425807.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 538,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PPPP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1197_1205dupACCGCCACC",
"hgvs_p": "p.Pro400_Pro402dup",
"transcript": "ENST00000698626.1",
"protein_id": "ENSP00000513845.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 532,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PPPP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1197_1205dupACCGCCACC",
"hgvs_p": "p.Pro400_Pro402dup",
"transcript": "NM_001438879.1",
"protein_id": "NP_001425808.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 502,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PPPP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1197_1205dupACCGCCACC",
"hgvs_p": "p.Pro400_Pro402dup",
"transcript": "ENST00000698625.1",
"protein_id": "ENSP00000513844.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 502,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PPPP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1041_1049dupACCGCCACC",
"hgvs_p": "p.Pro348_Pro350dup",
"transcript": "NM_001438876.1",
"protein_id": "NP_001425805.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 450,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PPPP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1197_1205dupACCGCCACC",
"hgvs_p": "p.Pro400_Pro402dup",
"transcript": "XM_017029786.2",
"protein_id": "XP_016885275.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 590,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PPPP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1197_1205dupACCGCCACC",
"hgvs_p": "p.Pro400_Pro402dup",
"transcript": "XM_047442432.1",
"protein_id": "XP_047298388.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 590,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PPPP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1041_1049dupACCGCCACC",
"hgvs_p": "p.Pro348_Pro350dup",
"transcript": "XM_047442433.1",
"protein_id": "XP_047298389.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 538,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 2722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PPPP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "c.1041_1049dupACCGCCACC",
"hgvs_p": "p.Pro348_Pro350dup",
"transcript": "XM_011543977.3",
"protein_id": "XP_011542279.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 450,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 1765,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "n.441_449dupACCGCCACC",
"hgvs_p": null,
"transcript": "ENST00000474174.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 611,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000232828",
"gene_hgnc_id": null,
"hgvs_c": "n.821+10105_821+10113dupCGGTGGTGG",
"hgvs_p": null,
"transcript": "ENST00000746890.1",
"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": 1256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"hgvs_c": "n.-110_-109insCCACCACCG",
"hgvs_p": null,
"transcript": "ENST00000470107.1",
"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": 322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WAS",
"gene_hgnc_id": 12731,
"dbsnp": "rs193922412",
"frequency_reference_population": 0.000017741459,
"hom_count_reference_population": 2,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000175235,
"gnomad_genomes_af": 0.0000199774,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.582,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000376701.5",
"gene_symbol": "WAS",
"hgnc_id": 12731,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.1197_1205dupACCGCCACC",
"hgvs_p": "p.Pro400_Pro402dup"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000746890.1",
"gene_symbol": "ENSG00000232828",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.821+10105_821+10113dupCGGTGGTGG",
"hgvs_p": null
}
],
"clinvar_disease": "Thrombocytopenia 1,WAS-related disorder,Wiskott-Aldrich syndrome,X-linked severe congenital neutropenia,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "X-linked severe congenital neutropenia;Thrombocytopenia 1;Wiskott-Aldrich syndrome|not provided|WAS-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}