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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: 17-44351138-CCTCA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44351138&ref=CCTCA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44351138,
"ref": "CCTCA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000053867.8",
"consequences": [
{
"aa_ref": "LT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRN",
"gene_hgnc_id": 4601,
"hgvs_c": "c.813_816delCACT",
"hgvs_p": "p.Thr272fs",
"transcript": "NM_002087.4",
"protein_id": "NP_002078.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 593,
"cds_start": 813,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": "ENST00000053867.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LT",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRN",
"gene_hgnc_id": 4601,
"hgvs_c": "c.813_816delCACT",
"hgvs_p": "p.Thr272fs",
"transcript": "ENST00000053867.8",
"protein_id": "ENSP00000053867.2",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 593,
"cds_start": 813,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": "NM_002087.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRN",
"gene_hgnc_id": 4601,
"hgvs_c": "c.252_255delCACT",
"hgvs_p": "p.Thr85fs",
"transcript": "ENST00000586443.1",
"protein_id": "ENSP00000465673.1",
"transcript_support_level": 3,
"aa_start": 84,
"aa_end": null,
"aa_length": 387,
"cds_start": 252,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 1557,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRN",
"gene_hgnc_id": 4601,
"hgvs_c": "n.231_234delCACT",
"hgvs_p": null,
"transcript": "ENST00000585348.1",
"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": 600,
"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": "GRN",
"gene_hgnc_id": 4601,
"hgvs_c": "n.*223_*226delCACT",
"hgvs_p": null,
"transcript": "ENST00000586782.5",
"protein_id": "ENSP00000468318.1",
"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": 843,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRN",
"gene_hgnc_id": 4601,
"hgvs_c": "n.403_406delCACT",
"hgvs_p": null,
"transcript": "ENST00000590984.1",
"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": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRN",
"gene_hgnc_id": 4601,
"hgvs_c": "n.*223_*226delCACT",
"hgvs_p": null,
"transcript": "ENST00000586782.5",
"protein_id": "ENSP00000468318.1",
"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": 843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GRN",
"gene_hgnc_id": 4601,
"hgvs_c": "c.463-409_463-406delCACT",
"hgvs_p": null,
"transcript": "ENST00000589265.5",
"protein_id": "ENSP00000467616.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GRN",
"gene_hgnc_id": 4601,
"hgvs_c": "n.93+41_93+44delCACT",
"hgvs_p": null,
"transcript": "ENST00000589923.1",
"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": 437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "GRN",
"gene_hgnc_id": 4601,
"hgvs_c": "c.*95_*98delCTCA",
"hgvs_p": null,
"transcript": "ENST00000588237.5",
"protein_id": "ENSP00000466611.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": -4,
"cds_end": null,
"cds_length": 518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRN",
"gene_hgnc_id": 4601,
"dbsnp": "rs63749877",
"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": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.487,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000053867.8",
"gene_symbol": "GRN",
"hgnc_id": 4601,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.813_816delCACT",
"hgvs_p": "p.Thr272fs"
}
],
"clinvar_disease": "GRN-related frontotemporal lobar degeneration with Tdp43 inclusions,Neuronal ceroid lipofuscinosis 11,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 O:1",
"phenotype_combined": "GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|Neuronal ceroid lipofuscinosis 11|not provided|Neuronal ceroid lipofuscinosis 11;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}