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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: 18-35340548-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=35340548&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 35340548,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006965.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "NM_006965.4",
"protein_id": "NP_008896.2",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 368,
"cds_start": 103,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": "ENST00000261332.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006965.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "ENST00000261332.11",
"protein_id": "ENSP00000261332.5",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 368,
"cds_start": 103,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": "NM_006965.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261332.11"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "ENST00000399061.3",
"protein_id": "ENSP00000382015.2",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 368,
"cds_start": 103,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 6282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399061.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "ENST00000589881.5",
"protein_id": "ENSP00000467655.1",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 193,
"cds_start": 103,
"cds_end": null,
"cds_length": 582,
"cdna_start": 107,
"cdna_end": null,
"cdna_length": 7419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589881.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "NM_001375815.1",
"protein_id": "NP_001362744.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 368,
"cds_start": 103,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 6246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375815.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "ENST00000876552.1",
"protein_id": "ENSP00000546611.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 368,
"cds_start": 103,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876552.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "ENST00000876554.1",
"protein_id": "ENSP00000546613.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 368,
"cds_start": 103,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 1279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876554.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "ENST00000876555.1",
"protein_id": "ENSP00000546614.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 368,
"cds_start": 103,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 3867,
"cdna_end": null,
"cdna_length": 4890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876555.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "ENST00000876556.1",
"protein_id": "ENSP00000546615.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 368,
"cds_start": 103,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 1380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876556.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "ENST00000876557.1",
"protein_id": "ENSP00000546616.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 368,
"cds_start": 103,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 1395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876557.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "ENST00000876558.1",
"protein_id": "ENSP00000546617.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 368,
"cds_start": 103,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 1336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876558.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "ENST00000931765.1",
"protein_id": "ENSP00000601824.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 368,
"cds_start": 103,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 6302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931765.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "ENST00000931766.1",
"protein_id": "ENSP00000601825.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 368,
"cds_start": 103,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931766.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "ENST00000876553.1",
"protein_id": "ENSP00000546612.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 367,
"cds_start": 103,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876553.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "ENST00000954189.1",
"protein_id": "ENSP00000624248.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 367,
"cds_start": 103,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 1292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954189.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "NM_001308123.2",
"protein_id": "NP_001295052.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 193,
"cds_start": 103,
"cds_end": null,
"cds_length": 582,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 7549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308123.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "ENST00000590140.1",
"protein_id": "ENSP00000467432.1",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 137,
"cds_start": 103,
"cds_end": null,
"cds_length": 416,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590140.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "ENST00000589539.1",
"protein_id": "ENSP00000467608.1",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 101,
"cds_start": 103,
"cds_end": null,
"cds_length": 306,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589539.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys",
"transcript": "ENST00000593130.1",
"protein_id": "ENSP00000467924.1",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 95,
"cds_start": 103,
"cds_end": null,
"cds_length": 288,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593130.1"
}
],
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"dbsnp": "rs755100949",
"frequency_reference_population": 0.000011771339,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000102607,
"gnomad_genomes_af": 0.0000262816,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07011517882347107,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.1038,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.281,
"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_006965.4",
"gene_symbol": "ZNF24",
"hgnc_id": 13032,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Glu35Lys"
}
],
"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
}