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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: 16-20314690-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=20314690&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 20314690,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001007240.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.1513C>A",
"hgvs_p": "p.Pro505Thr",
"transcript": "NM_001502.4",
"protein_id": "NP_001493.2",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 534,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302555.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001502.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.1513C>A",
"hgvs_p": "p.Pro505Thr",
"transcript": "ENST00000302555.10",
"protein_id": "ENSP00000304044.6",
"transcript_support_level": 1,
"aa_start": 505,
"aa_end": null,
"aa_length": 534,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001502.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302555.10"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.1522C>A",
"hgvs_p": "p.Pro508Thr",
"transcript": "ENST00000381362.8",
"protein_id": "ENSP00000370767.4",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 537,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381362.8"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.1081C>A",
"hgvs_p": "p.Pro361Thr",
"transcript": "ENST00000381360.9",
"protein_id": "ENSP00000370765.5",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 390,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381360.9"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.1072C>A",
"hgvs_p": "p.Pro358Thr",
"transcript": "ENST00000341642.9",
"protein_id": "ENSP00000343861.5",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 387,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341642.9"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.1522C>A",
"hgvs_p": "p.Pro508Thr",
"transcript": "NM_001007240.3",
"protein_id": "NP_001007241.2",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 537,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007240.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.1513C>A",
"hgvs_p": "p.Pro505Thr",
"transcript": "ENST00000888890.1",
"protein_id": "ENSP00000558949.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 534,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888890.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.1513C>A",
"hgvs_p": "p.Pro505Thr",
"transcript": "ENST00000888891.1",
"protein_id": "ENSP00000558950.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 534,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888891.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.1081C>A",
"hgvs_p": "p.Pro361Thr",
"transcript": "NM_001007241.3",
"protein_id": "NP_001007242.2",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 390,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007241.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.1072C>A",
"hgvs_p": "p.Pro358Thr",
"transcript": "NM_001007242.3",
"protein_id": "NP_001007243.2",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 387,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007242.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"hgvs_c": "c.1072C>A",
"hgvs_p": "p.Pro358Thr",
"transcript": "ENST00000888892.1",
"protein_id": "ENSP00000558951.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 387,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888892.1"
}
],
"gene_symbol": "GP2",
"gene_hgnc_id": 4441,
"dbsnp": "rs184827364",
"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": 0.055391669273376465,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.0695,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.522,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001007240.3",
"gene_symbol": "GP2",
"hgnc_id": 4441,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1522C>A",
"hgvs_p": "p.Pro508Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}