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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: 20-45950262-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45950262&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 45950262,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_022095.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3444C>A",
"hgvs_p": "p.Thr1148Thr",
"transcript": "NM_022095.4",
"protein_id": "NP_071378.1",
"transcript_support_level": null,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3444,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 3576,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": "ENST00000322927.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022095.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3444C>A",
"hgvs_p": "p.Thr1148Thr",
"transcript": "ENST00000322927.3",
"protein_id": "ENSP00000325326.2",
"transcript_support_level": 1,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3444,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 3576,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": "NM_022095.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322927.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3486C>A",
"hgvs_p": "p.Thr1162Thr",
"transcript": "ENST00000944756.1",
"protein_id": "ENSP00000614815.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1356,
"cds_start": 3486,
"cds_end": null,
"cds_length": 4071,
"cdna_start": 3617,
"cdna_end": null,
"cdna_length": 4499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944756.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3441C>A",
"hgvs_p": "p.Thr1147Thr",
"transcript": "ENST00000862676.1",
"protein_id": "ENSP00000532735.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3441,
"cds_end": null,
"cds_length": 4053,
"cdna_start": 3978,
"cdna_end": null,
"cdna_length": 4885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862676.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3444C>A",
"hgvs_p": "p.Thr1148Thr",
"transcript": "ENST00000862677.1",
"protein_id": "ENSP00000532736.1",
"transcript_support_level": null,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3444,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 3933,
"cdna_end": null,
"cdna_length": 4818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862677.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3441C>A",
"hgvs_p": "p.Thr1147Thr",
"transcript": "ENST00000862673.1",
"protein_id": "ENSP00000532732.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3441,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 3576,
"cdna_end": null,
"cdna_length": 4461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862673.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3444C>A",
"hgvs_p": "p.Thr1148Thr",
"transcript": "ENST00000862675.1",
"protein_id": "ENSP00000532734.1",
"transcript_support_level": null,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3444,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 4002,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862675.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3441C>A",
"hgvs_p": "p.Thr1147Thr",
"transcript": "ENST00000862678.1",
"protein_id": "ENSP00000532737.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3441,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 3922,
"cdna_end": null,
"cdna_length": 4807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862678.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3438C>A",
"hgvs_p": "p.Thr1146Thr",
"transcript": "ENST00000944757.1",
"protein_id": "ENSP00000614816.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1340,
"cds_start": 3438,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 3781,
"cdna_end": null,
"cdna_length": 4650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944757.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3360C>A",
"hgvs_p": "p.Thr1120Thr",
"transcript": "ENST00000862674.1",
"protein_id": "ENSP00000532733.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3360,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3474,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862674.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3444C>A",
"hgvs_p": "p.Thr1148Thr",
"transcript": "XM_047440363.1",
"protein_id": "XP_047296319.1",
"transcript_support_level": null,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3444,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 3925,
"cdna_end": null,
"cdna_length": 4803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440363.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3441C>A",
"hgvs_p": "p.Thr1147Thr",
"transcript": "XM_005260504.5",
"protein_id": "XP_005260561.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3441,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 3922,
"cdna_end": null,
"cdna_length": 4800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260504.5"
}
],
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"dbsnp": "rs759216909",
"frequency_reference_population": 0.0000014292575,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000142926,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.499,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_022095.4",
"gene_symbol": "ZNF335",
"hgnc_id": 15807,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3444C>A",
"hgvs_p": "p.Thr1148Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}