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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: 19-43608102-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43608102&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF428",
"hgnc_id": 20804,
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Glu28Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_182498.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SRRM5",
"hgnc_id": 37248,
"hgvs_c": "c.-95-3925C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000607544.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.625,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.29725342988967896,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 188,
"aa_ref": "E",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1162,
"cdna_start": 284,
"cds_end": null,
"cds_length": 567,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_182498.4",
"gene_hgnc_id": 20804,
"gene_symbol": "ZNF428",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Glu28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000300811.8",
"protein_coding": true,
"protein_id": "NP_872304.2",
"strand": false,
"transcript": "NM_182498.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 188,
"aa_ref": "E",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1162,
"cdna_start": 284,
"cds_end": null,
"cds_length": 567,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000300811.8",
"gene_hgnc_id": 20804,
"gene_symbol": "ZNF428",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Glu28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182498.4",
"protein_coding": true,
"protein_id": "ENSP00000300811.2",
"strand": false,
"transcript": "ENST00000300811.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 221,
"aa_ref": "E",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1898,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 666,
"cds_start": 181,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855579.1",
"gene_hgnc_id": 20804,
"gene_symbol": "ZNF428",
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Glu61Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525638.1",
"strand": false,
"transcript": "ENST00000855579.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 221,
"aa_ref": "E",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1185,
"cdna_start": 540,
"cds_end": null,
"cds_length": 666,
"cds_start": 181,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000855581.1",
"gene_hgnc_id": 20804,
"gene_symbol": "ZNF428",
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Glu61Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525640.1",
"strand": false,
"transcript": "ENST00000855581.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 221,
"aa_ref": "E",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1250,
"cdna_start": 606,
"cds_end": null,
"cds_length": 666,
"cds_start": 181,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855584.1",
"gene_hgnc_id": 20804,
"gene_symbol": "ZNF428",
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Glu61Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525643.1",
"strand": false,
"transcript": "ENST00000855584.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 221,
"aa_ref": "E",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1099,
"cdna_start": 456,
"cds_end": null,
"cds_length": 666,
"cds_start": 181,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855588.1",
"gene_hgnc_id": 20804,
"gene_symbol": "ZNF428",
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Glu61Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525647.1",
"strand": false,
"transcript": "ENST00000855588.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 217,
"aa_ref": "E",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 827,
"cdna_start": 353,
"cds_end": null,
"cds_length": 655,
"cds_start": 181,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000598676.1",
"gene_hgnc_id": 20804,
"gene_symbol": "ZNF428",
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Glu61Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469484.1",
"strand": false,
"transcript": "ENST00000598676.1",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 188,
"aa_ref": "E",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1339,
"cdna_start": 460,
"cds_end": null,
"cds_length": 567,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855578.1",
"gene_hgnc_id": 20804,
"gene_symbol": "ZNF428",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Glu28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525637.1",
"strand": false,
"transcript": "ENST00000855578.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 188,
"aa_ref": "E",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 952,
"cdna_start": 307,
"cds_end": null,
"cds_length": 567,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000855580.1",
"gene_hgnc_id": 20804,
"gene_symbol": "ZNF428",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Glu28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525639.1",
"strand": false,
"transcript": "ENST00000855580.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 188,
"aa_ref": "E",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1547,
"cdna_start": 902,
"cds_end": null,
"cds_length": 567,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000855583.1",
"gene_hgnc_id": 20804,
"gene_symbol": "ZNF428",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Glu28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525642.1",
"strand": false,
"transcript": "ENST00000855583.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 188,
"aa_ref": "E",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1468,
"cdna_start": 824,
"cds_end": null,
"cds_length": 567,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000855585.1",
"gene_hgnc_id": 20804,
"gene_symbol": "ZNF428",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Glu28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525644.1",
"strand": false,
"transcript": "ENST00000855585.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 188,
"aa_ref": "E",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 956,
"cdna_start": 312,
"cds_end": null,
"cds_length": 567,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000855586.1",
"gene_hgnc_id": 20804,
"gene_symbol": "ZNF428",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Glu28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525645.1",
"strand": false,
"transcript": "ENST00000855586.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 188,
"aa_ref": "E",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1113,
"cdna_start": 468,
"cds_end": null,
"cds_length": 567,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000855587.1",
"gene_hgnc_id": 20804,
"gene_symbol": "ZNF428",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Glu28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525646.1",
"strand": false,
"transcript": "ENST00000855587.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 188,
"aa_ref": "E",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1229,
"cdna_start": 585,
"cds_end": null,
"cds_length": 567,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000855589.1",
"gene_hgnc_id": 20804,
"gene_symbol": "ZNF428",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Glu28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525648.1",
"strand": false,
"transcript": "ENST00000855589.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 188,
"aa_ref": "E",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1328,
"cdna_start": 450,
"cds_end": null,
"cds_length": 567,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047438168.1",
"gene_hgnc_id": 20804,
"gene_symbol": "ZNF428",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Glu28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294124.1",
"strand": false,
"transcript": "XM_047438168.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 715,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": null,
"cds_end": null,
"cds_length": 2148,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000607544.1",
"gene_hgnc_id": 37248,
"gene_symbol": "SRRM5",
"hgvs_c": "c.-95-3925C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476253.1",
"strand": true,
"transcript": "ENST00000607544.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 863,
"cdna_start": null,
"cds_end": null,
"cds_length": 528,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855582.1",
"gene_hgnc_id": 20804,
"gene_symbol": "ZNF428",
"hgvs_c": "c.77-34G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525641.1",
"strand": false,
"transcript": "ENST00000855582.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs971199575",
"effect": "missense_variant",
"frequency_reference_population": 0.0000031032,
"gene_hgnc_id": 20804,
"gene_symbol": "ZNF428",
"gnomad_exomes_ac": 4,
"gnomad_exomes_af": 0.0000027415,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657091,
"gnomad_genomes_homalt": 0,
"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 specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.298,
"pos": 43608102,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.115,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.03999999910593033,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.04,
"transcript": "NM_182498.4"
}
]
}