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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: 3-44720310-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=44720310&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 44720310,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_033210.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF502",
"gene_hgnc_id": 23718,
"hgvs_c": "c.49T>G",
"hgvs_p": "p.Cys17Gly",
"transcript": "NM_001134442.3",
"protein_id": "NP_001127914.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 544,
"cds_start": 49,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": "ENST00000436624.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134442.3"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF502",
"gene_hgnc_id": 23718,
"hgvs_c": "c.49T>G",
"hgvs_p": "p.Cys17Gly",
"transcript": "ENST00000436624.7",
"protein_id": "ENSP00000406469.2",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 544,
"cds_start": 49,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": "NM_001134442.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436624.7"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF502",
"gene_hgnc_id": 23718,
"hgvs_c": "c.49T>G",
"hgvs_p": "p.Cys17Gly",
"transcript": "ENST00000296091.8",
"protein_id": "ENSP00000296091.4",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 544,
"cds_start": 49,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 3270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296091.8"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF502",
"gene_hgnc_id": 23718,
"hgvs_c": "c.49T>G",
"hgvs_p": "p.Cys17Gly",
"transcript": "NM_001134440.2",
"protein_id": "NP_001127912.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 544,
"cds_start": 49,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134440.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF502",
"gene_hgnc_id": 23718,
"hgvs_c": "c.49T>G",
"hgvs_p": "p.Cys17Gly",
"transcript": "NM_001134441.2",
"protein_id": "NP_001127913.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 544,
"cds_start": 49,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134441.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF502",
"gene_hgnc_id": 23718,
"hgvs_c": "c.49T>G",
"hgvs_p": "p.Cys17Gly",
"transcript": "NM_001282880.2",
"protein_id": "NP_001269809.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 544,
"cds_start": 49,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 3375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282880.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF502",
"gene_hgnc_id": 23718,
"hgvs_c": "c.49T>G",
"hgvs_p": "p.Cys17Gly",
"transcript": "NM_033210.5",
"protein_id": "NP_149987.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 544,
"cds_start": 49,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 3256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033210.5"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF502",
"gene_hgnc_id": 23718,
"hgvs_c": "c.49T>G",
"hgvs_p": "p.Cys17Gly",
"transcript": "ENST00000449836.5",
"protein_id": "ENSP00000397390.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 544,
"cds_start": 49,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449836.5"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF502",
"gene_hgnc_id": 23718,
"hgvs_c": "c.49T>G",
"hgvs_p": "p.Cys17Gly",
"transcript": "ENST00000877951.1",
"protein_id": "ENSP00000548010.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 544,
"cds_start": 49,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877951.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF502",
"gene_hgnc_id": 23718,
"hgvs_c": "c.49T>G",
"hgvs_p": "p.Cys17Gly",
"transcript": "ENST00000877952.1",
"protein_id": "ENSP00000548011.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 544,
"cds_start": 49,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877952.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF502",
"gene_hgnc_id": 23718,
"hgvs_c": "c.49T>G",
"hgvs_p": "p.Cys17Gly",
"transcript": "ENST00000935001.1",
"protein_id": "ENSP00000605060.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 544,
"cds_start": 49,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935001.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF502",
"gene_hgnc_id": 23718,
"hgvs_c": "c.49T>G",
"hgvs_p": "p.Cys17Gly",
"transcript": "ENST00000949184.1",
"protein_id": "ENSP00000619243.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 544,
"cds_start": 49,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949184.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF502",
"gene_hgnc_id": 23718,
"hgvs_c": "c.49T>G",
"hgvs_p": "p.Cys17Gly",
"transcript": "ENST00000411443.1",
"protein_id": "ENSP00000401717.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 154,
"cds_start": 49,
"cds_end": null,
"cds_length": 465,
"cdna_start": 177,
"cdna_end": null,
"cdna_length": 593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411443.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC105377056",
"gene_hgnc_id": null,
"hgvs_c": "n.928-4473A>C",
"hgvs_p": null,
"transcript": "XR_940788.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1248,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_940788.4"
}
],
"gene_symbol": "ZNF502",
"gene_hgnc_id": 23718,
"dbsnp": "rs575447603",
"frequency_reference_population": 0.000027879902,
"hom_count_reference_population": 1,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000294157,
"gnomad_genomes_af": 0.0000131354,
"gnomad_exomes_ac": 43,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.039878398180007935,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.061,
"revel_prediction": "Benign",
"alphamissense_score": 0.0842,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_033210.5",
"gene_symbol": "ZNF502",
"hgnc_id": 23718,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.49T>G",
"hgvs_p": "p.Cys17Gly"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_940788.4",
"gene_symbol": "LOC105377056",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.928-4473A>C",
"hgvs_p": null
}
],
"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
}