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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: 14-22771504-T-TAGCAGCAGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=22771504&ref=T&alt=TAGCAGCAGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 22771504,
"ref": "T",
"alt": "TAGCAGCAGC",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000612549.6",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "SSSK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "c.1259_1267dupGCAGCAGCA",
"hgvs_p": "p.Ser420_Ser422dup",
"transcript": "NM_005015.5",
"protein_id": "NP_005006.4",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 435,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 2806,
"mane_select": "ENST00000612549.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "SSSK",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "c.1259_1267dupGCAGCAGCA",
"hgvs_p": "p.Ser420_Ser422dup",
"transcript": "ENST00000612549.6",
"protein_id": "ENSP00000483491.2",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 435,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 2806,
"mane_select": "NM_005015.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "SSSK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "c.1439_1447dupGCAGCAGCA",
"hgvs_p": "p.Ser480_Ser482dup",
"transcript": "ENST00000285848.9",
"protein_id": "ENSP00000285848.5",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 495,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "SSSK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "c.1211_1219dupGCAGCAGCA",
"hgvs_p": "p.Ser404_Ser406dup",
"transcript": "ENST00000358043.5",
"protein_id": "ENSP00000350740.5",
"transcript_support_level": 2,
"aa_start": 407,
"aa_end": null,
"aa_length": 419,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 1750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "SSSK",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "c.1178_1186dupGCAGCAGCA",
"hgvs_p": "p.Ser393_Ser395dup",
"transcript": "ENST00000412791.5",
"protein_id": "ENSP00000387601.1",
"transcript_support_level": 5,
"aa_start": 396,
"aa_end": null,
"aa_length": 408,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 1440,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "n.1344_1352dupGCAGCAGCA",
"hgvs_p": null,
"transcript": "ENST00000481218.1",
"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": 1596,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"hgvs_c": "n.1434_1442dupGCAGCAGCA",
"hgvs_p": null,
"transcript": "ENST00000495424.5",
"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": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OXA1L",
"gene_hgnc_id": 8526,
"dbsnp": "rs148216086",
"frequency_reference_population": 6.8507694e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85077e-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": 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": 1.115,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000612549.6",
"gene_symbol": "OXA1L",
"hgnc_id": 8526,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1259_1267dupGCAGCAGCA",
"hgvs_p": "p.Ser420_Ser422dup"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}