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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: 9-98473185-CTCGAAA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=98473185&ref=CTCGAAA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 98473185,
"ref": "CTCGAAA",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000259455.4",
"consequences": [
{
"aa_ref": "DFE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"hgvs_c": "c.954_959delTTTCGA",
"hgvs_p": "p.Asp318_Phe319del",
"transcript": "NM_005458.8",
"protein_id": "NP_005449.5",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 941,
"cds_start": 954,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 5499,
"mane_select": "ENST00000259455.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DFE",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"hgvs_c": "c.954_959delTTTCGA",
"hgvs_p": "p.Asp318_Phe319del",
"transcript": "ENST00000259455.4",
"protein_id": "ENSP00000259455.2",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 941,
"cds_start": 954,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 5499,
"mane_select": "NM_005458.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DFE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"hgvs_c": "c.660_665delTTTCGA",
"hgvs_p": "p.Asp220_Phe221del",
"transcript": "XM_017015331.3",
"protein_id": "XP_016870820.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 843,
"cds_start": 660,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 5178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DFE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"hgvs_c": "c.180_185delTTTCGA",
"hgvs_p": "p.Asp60_Phe61del",
"transcript": "XM_005252316.6",
"protein_id": "XP_005252373.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 683,
"cds_start": 180,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 4794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DFE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"hgvs_c": "c.180_185delTTTCGA",
"hgvs_p": "p.Asp60_Phe61del",
"transcript": "XM_017015332.3",
"protein_id": "XP_016870821.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 683,
"cds_start": 180,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 4747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"hgvs_c": "n.732_737delTTTCGA",
"hgvs_p": null,
"transcript": "ENST00000634919.1",
"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": 831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"hgvs_c": "n.732_737delTTTCGA",
"hgvs_p": null,
"transcript": "ENST00000637410.1",
"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": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"hgvs_c": "n.*39_*44delTTTCGA",
"hgvs_p": null,
"transcript": "ENST00000477471.1",
"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": 702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"hgvs_c": "n.*145_*150delTTTCGA",
"hgvs_p": null,
"transcript": "ENST00000634227.1",
"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": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GABBR2",
"gene_hgnc_id": 4507,
"dbsnp": "rs1554709553",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"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": 9.318,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PM4,PP3",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM4",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000259455.4",
"gene_symbol": "GABBR2",
"hgnc_id": 4507,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.954_959delTTTCGA",
"hgvs_p": "p.Asp318_Phe319del"
}
],
"clinvar_disease": "Epileptic encephalopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Epileptic encephalopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}