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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: 12-6936728-A-ACAGCAGCAGCAGCAGCAGCAGCAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6936728&ref=A&alt=ACAGCAGCAGCAGCAGCAGCAGCAG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6936728,
"ref": "A",
"alt": "ACAGCAGCAGCAGCAGCAGCAGCAG",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000396684.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "QQQQQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"hgvs_c": "c.1485_1508dupGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln495_Gln502dup",
"transcript": "NM_001940.4",
"protein_id": "NP_001931.2",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1509,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 4702,
"mane_select": "ENST00000396684.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "QQQQQQQQH",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"hgvs_c": "c.1485_1508dupGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln495_Gln502dup",
"transcript": "ENST00000396684.3",
"protein_id": "ENSP00000379915.2",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1509,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 4702,
"mane_select": "NM_001940.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "QQQQQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"hgvs_c": "c.1485_1508dupGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln495_Gln502dup",
"transcript": "ENST00000356654.8",
"protein_id": "ENSP00000349076.3",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1509,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 1746,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "QQQQQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"hgvs_c": "c.1485_1508dupGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln495_Gln502dup",
"transcript": "NM_001007026.2",
"protein_id": "NP_001007027.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1509,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 1750,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "QQQQQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"hgvs_c": "c.1485_1508dupGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln495_Gln502dup",
"transcript": "NM_001424176.1",
"protein_id": "NP_001411105.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1509,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 2408,
"cdna_end": null,
"cdna_length": 5013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "QQQQQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"hgvs_c": "c.1485_1508dupGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln495_Gln502dup",
"transcript": "NM_001424177.1",
"protein_id": "NP_001411106.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1509,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 2081,
"cdna_end": null,
"cdna_length": 4686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "QQQQQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"hgvs_c": "c.1485_1508dupGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln495_Gln502dup",
"transcript": "NM_001424178.1",
"protein_id": "NP_001411107.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1509,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 4518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "QQQQQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"hgvs_c": "c.1482_1505dupGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln494_Gln501dup",
"transcript": "NM_001424179.1",
"protein_id": "NP_001411108.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 1189,
"cds_start": 1506,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "QQQQQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"hgvs_c": "c.1482_1505dupGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln494_Gln501dup",
"transcript": "NM_001424180.1",
"protein_id": "NP_001411109.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 1189,
"cds_start": 1506,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 4699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"dbsnp": "rs60216939",
"frequency_reference_population": 0.0016260835,
"hom_count_reference_population": 1,
"allele_count_reference_population": 236,
"gnomad_exomes_af": 0.000822849,
"gnomad_genomes_af": 0.00162608,
"gnomad_exomes_ac": 1184,
"gnomad_genomes_ac": 236,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"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": 0.621,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000396684.3",
"gene_symbol": "ATN1",
"hgnc_id": 3033,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1485_1508dupGCAGCAGCAGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln495_Gln502dup"
}
],
"clinvar_disease": "ATN1-related disorder,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "ATN1-related disorder|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}