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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: 18-35339960-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=35339960&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 35339960,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006965.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "NM_006965.4",
"protein_id": "NP_008896.2",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 368,
"cds_start": 437,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261332.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006965.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "ENST00000261332.11",
"protein_id": "ENSP00000261332.5",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 368,
"cds_start": 437,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006965.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261332.11"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "ENST00000399061.3",
"protein_id": "ENSP00000382015.2",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 368,
"cds_start": 437,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399061.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "ENST00000589881.5",
"protein_id": "ENSP00000467655.1",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 193,
"cds_start": 437,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589881.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "NM_001375815.1",
"protein_id": "NP_001362744.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 368,
"cds_start": 437,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375815.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "ENST00000876552.1",
"protein_id": "ENSP00000546611.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 368,
"cds_start": 437,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876552.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "ENST00000876554.1",
"protein_id": "ENSP00000546613.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 368,
"cds_start": 437,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876554.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "ENST00000876555.1",
"protein_id": "ENSP00000546614.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 368,
"cds_start": 437,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876555.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "ENST00000876556.1",
"protein_id": "ENSP00000546615.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 368,
"cds_start": 437,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876556.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "ENST00000876557.1",
"protein_id": "ENSP00000546616.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 368,
"cds_start": 437,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876557.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "ENST00000876558.1",
"protein_id": "ENSP00000546617.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 368,
"cds_start": 437,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876558.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "ENST00000931765.1",
"protein_id": "ENSP00000601824.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 368,
"cds_start": 437,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931765.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "ENST00000931766.1",
"protein_id": "ENSP00000601825.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 368,
"cds_start": 437,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931766.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "ENST00000876553.1",
"protein_id": "ENSP00000546612.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 367,
"cds_start": 437,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876553.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "ENST00000954189.1",
"protein_id": "ENSP00000624248.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 367,
"cds_start": 437,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954189.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "NM_001308123.2",
"protein_id": "NP_001295052.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 193,
"cds_start": 437,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308123.2"
}
],
"gene_symbol": "ZNF24",
"gene_hgnc_id": 13032,
"dbsnp": "rs771074537",
"frequency_reference_population": 0.000009944287,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000102958,
"gnomad_genomes_af": 0.00000657635,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03312259912490845,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.082,
"revel_prediction": "Benign",
"alphamissense_score": 0.1301,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.354,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_006965.4",
"gene_symbol": "ZNF24",
"hgnc_id": 13032,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln"
}
],
"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
}