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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: 19-13135228-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=13135228&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NACC1",
"hgnc_id": 20967,
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Met7Ile",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_052876.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.928,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.14470434188842773,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 527,
"aa_ref": "M",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4524,
"cdna_start": 220,
"cds_end": null,
"cds_length": 1584,
"cds_start": 21,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_052876.4",
"gene_hgnc_id": 20967,
"gene_symbol": "NACC1",
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Met7Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000292431.5",
"protein_coding": true,
"protein_id": "NP_443108.1",
"strand": true,
"transcript": "NM_052876.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 527,
"aa_ref": "M",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4524,
"cdna_start": 220,
"cds_end": null,
"cds_length": 1584,
"cds_start": 21,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000292431.5",
"gene_hgnc_id": 20967,
"gene_symbol": "NACC1",
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Met7Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_052876.4",
"protein_coding": true,
"protein_id": "ENSP00000292431.3",
"strand": true,
"transcript": "ENST00000292431.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 527,
"aa_ref": "M",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4524,
"cdna_start": 241,
"cds_end": null,
"cds_length": 1584,
"cds_start": 21,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000586171.3",
"gene_hgnc_id": 20967,
"gene_symbol": "NACC1",
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Met7Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467120.2",
"strand": true,
"transcript": "ENST00000586171.3",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 527,
"aa_ref": "M",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4657,
"cdna_start": 355,
"cds_end": null,
"cds_length": 1584,
"cds_start": 21,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000700232.1",
"gene_hgnc_id": 20967,
"gene_symbol": "NACC1",
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Met7Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514870.1",
"strand": true,
"transcript": "ENST00000700232.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 527,
"aa_ref": "M",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4548,
"cdna_start": 248,
"cds_end": null,
"cds_length": 1584,
"cds_start": 21,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000901702.1",
"gene_hgnc_id": 20967,
"gene_symbol": "NACC1",
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Met7Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571761.1",
"strand": true,
"transcript": "ENST00000901702.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 527,
"aa_ref": "M",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4906,
"cdna_start": 606,
"cds_end": null,
"cds_length": 1584,
"cds_start": 21,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000901703.1",
"gene_hgnc_id": 20967,
"gene_symbol": "NACC1",
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Met7Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571762.1",
"strand": true,
"transcript": "ENST00000901703.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 527,
"aa_ref": "M",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4406,
"cdna_start": 102,
"cds_end": null,
"cds_length": 1584,
"cds_start": 21,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000901704.1",
"gene_hgnc_id": 20967,
"gene_symbol": "NACC1",
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Met7Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571763.1",
"strand": true,
"transcript": "ENST00000901704.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 527,
"aa_ref": "M",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4540,
"cdna_start": 240,
"cds_end": null,
"cds_length": 1584,
"cds_start": 21,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000913331.1",
"gene_hgnc_id": 20967,
"gene_symbol": "NACC1",
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Met7Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583390.1",
"strand": true,
"transcript": "ENST00000913331.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 527,
"aa_ref": "M",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4644,
"cdna_start": 346,
"cds_end": null,
"cds_length": 1584,
"cds_start": 21,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000913332.1",
"gene_hgnc_id": 20967,
"gene_symbol": "NACC1",
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Met7Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583391.1",
"strand": true,
"transcript": "ENST00000913332.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 527,
"aa_ref": "M",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4602,
"cdna_start": 300,
"cds_end": null,
"cds_length": 1584,
"cds_start": 21,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000913333.1",
"gene_hgnc_id": 20967,
"gene_symbol": "NACC1",
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Met7Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583392.1",
"strand": true,
"transcript": "ENST00000913333.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 527,
"aa_ref": "M",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4555,
"cdna_start": 251,
"cds_end": null,
"cds_length": 1584,
"cds_start": 21,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005259721.4",
"gene_hgnc_id": 20967,
"gene_symbol": "NACC1",
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Met7Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005259778.1",
"strand": true,
"transcript": "XM_005259721.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 527,
"aa_ref": "M",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4611,
"cdna_start": 307,
"cds_end": null,
"cds_length": 1584,
"cds_start": 21,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047438118.1",
"gene_hgnc_id": 20967,
"gene_symbol": "NACC1",
"hgvs_c": "c.21G>A",
"hgvs_p": "p.Met7Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294074.1",
"strand": true,
"transcript": "XM_047438118.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2019684955",
"effect": "missense_variant",
"frequency_reference_population": 6.8655385e-7,
"gene_hgnc_id": 20967,
"gene_symbol": "NACC1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.86554e-7,
"gnomad_exomes_homalt": 0,
"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": "Uncertain significance",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.167,
"pos": 13135228,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.111,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_052876.4"
}
]
}