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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: 22-43946294-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=43946294&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 43946294,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_025225.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA3",
"gene_hgnc_id": 18590,
"hgvs_c": "c.1358G>T",
"hgvs_p": "p.Ser453Ile",
"transcript": "NM_025225.3",
"protein_id": "NP_079501.2",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 481,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216180.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025225.3"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA3",
"gene_hgnc_id": 18590,
"hgvs_c": "c.1358G>T",
"hgvs_p": "p.Ser453Ile",
"transcript": "ENST00000216180.8",
"protein_id": "ENSP00000216180.3",
"transcript_support_level": 1,
"aa_start": 453,
"aa_end": null,
"aa_length": 481,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025225.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216180.8"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA3",
"gene_hgnc_id": 18590,
"hgvs_c": "c.1388G>T",
"hgvs_p": "p.Ser463Ile",
"transcript": "ENST00000862822.1",
"protein_id": "ENSP00000532881.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 491,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862822.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA3",
"gene_hgnc_id": 18590,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Ser461Ile",
"transcript": "ENST00000862819.1",
"protein_id": "ENSP00000532878.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 489,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862819.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA3",
"gene_hgnc_id": 18590,
"hgvs_c": "c.1370G>T",
"hgvs_p": "p.Ser457Ile",
"transcript": "ENST00000862820.1",
"protein_id": "ENSP00000532879.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 485,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862820.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA3",
"gene_hgnc_id": 18590,
"hgvs_c": "c.1346G>T",
"hgvs_p": "p.Ser449Ile",
"transcript": "ENST00000423180.2",
"protein_id": "ENSP00000397987.2",
"transcript_support_level": 2,
"aa_start": 449,
"aa_end": null,
"aa_length": 477,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423180.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA3",
"gene_hgnc_id": 18590,
"hgvs_c": "c.1148G>T",
"hgvs_p": "p.Ser383Ile",
"transcript": "ENST00000862821.1",
"protein_id": "ENSP00000532880.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 411,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862821.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPLA3",
"gene_hgnc_id": 18590,
"hgvs_c": "c.854G>T",
"hgvs_p": "p.Ser285Ile",
"transcript": "ENST00000862823.1",
"protein_id": "ENSP00000532882.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 313,
"cds_start": 854,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862823.1"
},
{
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PNPLA3",
"gene_hgnc_id": 18590,
"hgvs_c": "n.*849+1499G>T",
"hgvs_p": null,
"transcript": "ENST00000406117.6",
"protein_id": "ENSP00000384668.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000406117.6"
}
],
"gene_symbol": "PNPLA3",
"gene_hgnc_id": 18590,
"dbsnp": "rs6006460",
"frequency_reference_population": 0.0053764773,
"hom_count_reference_population": 400,
"allele_count_reference_population": 8678,
"gnomad_exomes_af": 0.00287435,
"gnomad_genomes_af": 0.0294137,
"gnomad_exomes_ac": 4202,
"gnomad_genomes_ac": 4476,
"gnomad_exomes_homalt": 193,
"gnomad_genomes_homalt": 207,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001837998628616333,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.134,
"revel_prediction": "Benign",
"alphamissense_score": 0.2014,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.092,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_025225.3",
"gene_symbol": "PNPLA3",
"hgnc_id": 18590,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1358G>T",
"hgvs_p": "p.Ser453Ile"
}
],
"clinvar_disease": "NAFLD1,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "NAFLD1|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}