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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: 12-101761307-C-CACTTTGTG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=101761307&ref=C&alt=CACTTTGTG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "GNPTAB",
"hgnc_id": 29670,
"hgvs_c": "c.2948_2954dupACAAAGT",
"hgvs_p": "p.Arg986fs",
"inheritance_mode": "AR",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_024312.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCACTTTGT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "VQS?",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "V",
"aa_start": 985,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5720,
"cdna_start": 3238,
"cds_end": null,
"cds_length": 3771,
"cds_start": 2954,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_024312.5",
"gene_hgnc_id": 29670,
"gene_symbol": "GNPTAB",
"hgvs_c": "c.2948_2954dupACAAAGT",
"hgvs_p": "p.Arg986fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000299314.12",
"protein_coding": true,
"protein_id": "NP_077288.2",
"strand": false,
"transcript": "NM_024312.5",
"transcript_support_level": null
},
{
"aa_alt": "VQS?",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "V",
"aa_start": 985,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5720,
"cdna_start": 3238,
"cds_end": null,
"cds_length": 3771,
"cds_start": 2954,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000299314.12",
"gene_hgnc_id": 29670,
"gene_symbol": "GNPTAB",
"hgvs_c": "c.2948_2954dupACAAAGT",
"hgvs_p": "p.Arg986fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024312.5",
"protein_coding": true,
"protein_id": "ENSP00000299314.7",
"strand": false,
"transcript": "ENST00000299314.12",
"transcript_support_level": 1
},
{
"aa_alt": "VQS?",
"aa_end": null,
"aa_length": 1263,
"aa_ref": "V",
"aa_start": 992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5647,
"cdna_start": 3168,
"cds_end": null,
"cds_length": 3792,
"cds_start": 2975,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000917136.1",
"gene_hgnc_id": 29670,
"gene_symbol": "GNPTAB",
"hgvs_c": "c.2969_2975dupACAAAGT",
"hgvs_p": "p.Arg993fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587195.1",
"strand": false,
"transcript": "ENST00000917136.1",
"transcript_support_level": null
},
{
"aa_alt": "VQS?",
"aa_end": null,
"aa_length": 1254,
"aa_ref": "V",
"aa_start": 983,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5703,
"cdna_start": 3219,
"cds_end": null,
"cds_length": 3765,
"cds_start": 2948,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000917134.1",
"gene_hgnc_id": 29670,
"gene_symbol": "GNPTAB",
"hgvs_c": "c.2942_2948dupACAAAGT",
"hgvs_p": "p.Arg984fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587193.1",
"strand": false,
"transcript": "ENST00000917134.1",
"transcript_support_level": null
},
{
"aa_alt": "VQS?",
"aa_end": null,
"aa_length": 1216,
"aa_ref": "V",
"aa_start": 945,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5633,
"cdna_start": 3138,
"cds_end": null,
"cds_length": 3651,
"cds_start": 2834,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000917133.1",
"gene_hgnc_id": 29670,
"gene_symbol": "GNPTAB",
"hgvs_c": "c.2828_2834dupACAAAGT",
"hgvs_p": "p.Arg946fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587192.1",
"strand": false,
"transcript": "ENST00000917133.1",
"transcript_support_level": null
},
{
"aa_alt": "VQS?",
"aa_end": null,
"aa_length": 1205,
"aa_ref": "V",
"aa_start": 934,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5550,
"cdna_start": 3066,
"cds_end": null,
"cds_length": 3618,
"cds_start": 2801,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000917135.1",
"gene_hgnc_id": 29670,
"gene_symbol": "GNPTAB",
"hgvs_c": "c.2795_2801dupACAAAGT",
"hgvs_p": "p.Arg935fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587194.1",
"strand": false,
"transcript": "ENST00000917135.1",
"transcript_support_level": null
},
{
"aa_alt": "VQS?",
"aa_end": null,
"aa_length": 1188,
"aa_ref": "V",
"aa_start": 917,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4813,
"cdna_start": 3055,
"cds_end": null,
"cds_length": 3567,
"cds_start": 2750,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000953730.1",
"gene_hgnc_id": 29670,
"gene_symbol": "GNPTAB",
"hgvs_c": "c.2744_2750dupACAAAGT",
"hgvs_p": "p.Arg918fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623789.1",
"strand": false,
"transcript": "ENST00000953730.1",
"transcript_support_level": null
},
{
"aa_alt": "VQS?",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "V",
"aa_start": 958,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5371,
"cdna_start": 2889,
"cds_end": null,
"cds_length": 3690,
"cds_start": 2873,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011538731.3",
"gene_hgnc_id": 29670,
"gene_symbol": "GNPTAB",
"hgvs_c": "c.2867_2873dupACAAAGT",
"hgvs_p": "p.Arg959fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537033.1",
"strand": false,
"transcript": "XM_011538731.3",
"transcript_support_level": null
},
{
"aa_alt": "VQS?",
"aa_end": null,
"aa_length": 1179,
"aa_ref": "V",
"aa_start": 985,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4070,
"cdna_start": 3238,
"cds_end": null,
"cds_length": 3540,
"cds_start": 2954,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_006719593.4",
"gene_hgnc_id": 29670,
"gene_symbol": "GNPTAB",
"hgvs_c": "c.2948_2954dupACAAAGT",
"hgvs_p": "p.Arg986fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719656.1",
"strand": false,
"transcript": "XM_006719593.4",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "frameshift_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 29670,
"gene_symbol": "GNPTAB",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.947,
"pos": 101761306,
"ref": "GC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_024312.5"
}
]
}