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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: 16-4883752-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4883752&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4883752,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002705.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.4903G>A",
"hgvs_p": "p.Glu1635Lys",
"transcript": "NM_002705.5",
"protein_id": "NP_002696.4",
"transcript_support_level": null,
"aa_start": 1635,
"aa_end": null,
"aa_length": 1756,
"cds_start": 4903,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000345988.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002705.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.4903G>A",
"hgvs_p": "p.Glu1635Lys",
"transcript": "ENST00000345988.7",
"protein_id": "ENSP00000340510.2",
"transcript_support_level": 1,
"aa_start": 1635,
"aa_end": null,
"aa_length": 1756,
"cds_start": 4903,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002705.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345988.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.4951G>A",
"hgvs_p": "p.Glu1651Lys",
"transcript": "ENST00000950847.1",
"protein_id": "ENSP00000620906.1",
"transcript_support_level": null,
"aa_start": 1651,
"aa_end": null,
"aa_length": 1772,
"cds_start": 4951,
"cds_end": null,
"cds_length": 5319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950847.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.4900G>A",
"hgvs_p": "p.Glu1634Lys",
"transcript": "ENST00000923224.1",
"protein_id": "ENSP00000593283.1",
"transcript_support_level": null,
"aa_start": 1634,
"aa_end": null,
"aa_length": 1755,
"cds_start": 4900,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923224.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.4897G>A",
"hgvs_p": "p.Glu1633Lys",
"transcript": "ENST00000590782.6",
"protein_id": "ENSP00000465640.1",
"transcript_support_level": 5,
"aa_start": 1633,
"aa_end": null,
"aa_length": 1754,
"cds_start": 4897,
"cds_end": null,
"cds_length": 5265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590782.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.4735G>A",
"hgvs_p": "p.Glu1579Lys",
"transcript": "ENST00000923225.1",
"protein_id": "ENSP00000593284.1",
"transcript_support_level": null,
"aa_start": 1579,
"aa_end": null,
"aa_length": 1700,
"cds_start": 4735,
"cds_end": null,
"cds_length": 5103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923225.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.4633G>A",
"hgvs_p": "p.Glu1545Lys",
"transcript": "ENST00000950848.1",
"protein_id": "ENSP00000620907.1",
"transcript_support_level": null,
"aa_start": 1545,
"aa_end": null,
"aa_length": 1666,
"cds_start": 4633,
"cds_end": null,
"cds_length": 5001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950848.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.3166G>A",
"hgvs_p": "p.Glu1056Lys",
"transcript": "ENST00000592772.1",
"protein_id": "ENSP00000467699.1",
"transcript_support_level": 5,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1114,
"cds_start": 3166,
"cds_end": null,
"cds_length": 3346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592772.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.4990G>A",
"hgvs_p": "p.Glu1664Lys",
"transcript": "XM_017023374.3",
"protein_id": "XP_016878863.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1785,
"cds_start": 4990,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023374.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.4951G>A",
"hgvs_p": "p.Glu1651Lys",
"transcript": "XM_017023375.3",
"protein_id": "XP_016878864.1",
"transcript_support_level": null,
"aa_start": 1651,
"aa_end": null,
"aa_length": 1772,
"cds_start": 4951,
"cds_end": null,
"cds_length": 5319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023375.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.4942G>A",
"hgvs_p": "p.Glu1648Lys",
"transcript": "XM_006720902.5",
"protein_id": "XP_006720965.1",
"transcript_support_level": null,
"aa_start": 1648,
"aa_end": null,
"aa_length": 1769,
"cds_start": 4942,
"cds_end": null,
"cds_length": 5310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720902.5"
}
],
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"dbsnp": "rs764826268",
"frequency_reference_population": 0.000030980318,
"hom_count_reference_population": 0,
"allele_count_reference_population": 50,
"gnomad_exomes_af": 0.0000321539,
"gnomad_genomes_af": 0.0000197096,
"gnomad_exomes_ac": 47,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16211006045341492,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.08,
"revel_prediction": "Benign",
"alphamissense_score": 0.1042,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.466,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_002705.5",
"gene_symbol": "PPL",
"hgnc_id": 9273,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4903G>A",
"hgvs_p": "p.Glu1635Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}