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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: 16-3137516-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3137516&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 3137516,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004220.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF213",
"gene_hgnc_id": 13005,
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Arg79Leu",
"transcript": "NM_004220.3",
"protein_id": "NP_004211.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 459,
"cds_start": 236,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": "ENST00000396878.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF213",
"gene_hgnc_id": 13005,
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Arg79Leu",
"transcript": "ENST00000396878.8",
"protein_id": "ENSP00000380087.3",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 459,
"cds_start": 236,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": "NM_004220.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF213",
"gene_hgnc_id": 13005,
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Arg79Leu",
"transcript": "NM_001134655.2",
"protein_id": "NP_001128127.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 459,
"cds_start": 236,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF213",
"gene_hgnc_id": 13005,
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Arg79Leu",
"transcript": "ENST00000574902.5",
"protein_id": "ENSP00000460157.1",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
"aa_length": 459,
"cds_start": 236,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF213",
"gene_hgnc_id": 13005,
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Arg79Leu",
"transcript": "ENST00000576416.5",
"protein_id": "ENSP00000459177.1",
"transcript_support_level": 2,
"aa_start": 79,
"aa_end": null,
"aa_length": 459,
"cds_start": 236,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF213",
"gene_hgnc_id": 13005,
"hgvs_c": "c.113G>T",
"hgvs_p": "p.Arg38Leu",
"transcript": "ENST00000572647.5",
"protein_id": "ENSP00000459233.1",
"transcript_support_level": 2,
"aa_start": 38,
"aa_end": null,
"aa_length": 182,
"cds_start": 113,
"cds_end": null,
"cds_length": 549,
"cdna_start": 113,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF213",
"gene_hgnc_id": 13005,
"hgvs_c": "c.428G>T",
"hgvs_p": "p.Arg143Leu",
"transcript": "XM_047434602.1",
"protein_id": "XP_047290558.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 523,
"cds_start": 428,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 4659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF213",
"gene_hgnc_id": 13005,
"hgvs_c": "c.428G>T",
"hgvs_p": "p.Arg143Leu",
"transcript": "XM_047434603.1",
"protein_id": "XP_047290559.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 349,
"cds_start": 428,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 4714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF213",
"gene_hgnc_id": 13005,
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Arg79Leu",
"transcript": "XM_011522652.4",
"protein_id": "XP_011520954.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 285,
"cds_start": 236,
"cds_end": null,
"cds_length": 858,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF213",
"gene_hgnc_id": 13005,
"hgvs_c": "n.601G>T",
"hgvs_p": null,
"transcript": "ENST00000574928.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF213",
"gene_hgnc_id": 13005,
"hgvs_c": "n.236G>T",
"hgvs_p": null,
"transcript": "ENST00000576863.1",
"protein_id": "ENSP00000461024.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF213",
"gene_hgnc_id": 13005,
"hgvs_c": "n.710G>T",
"hgvs_p": null,
"transcript": "NR_104432.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF213-AS1",
"gene_hgnc_id": 50505,
"hgvs_c": "n.833+5290C>A",
"hgvs_p": null,
"transcript": "ENST00000576490.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF213-AS1",
"gene_hgnc_id": 50505,
"hgvs_c": "n.131+6088C>A",
"hgvs_p": null,
"transcript": "ENST00000674022.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF213-AS1",
"gene_hgnc_id": 50505,
"hgvs_c": "n.243-7863C>A",
"hgvs_p": null,
"transcript": "ENST00000849956.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF213-AS1",
"gene_hgnc_id": 50505,
"hgvs_c": "n.79-7863C>A",
"hgvs_p": null,
"transcript": "ENST00000849957.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF213-AS1",
"gene_hgnc_id": 50505,
"hgvs_c": "n.229-7863C>A",
"hgvs_p": null,
"transcript": "ENST00000849958.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF213-AS1",
"gene_hgnc_id": 50505,
"hgvs_c": "n.227-7863C>A",
"hgvs_p": null,
"transcript": "ENST00000849959.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF213-AS1",
"gene_hgnc_id": 50505,
"hgvs_c": "n.209-5413C>A",
"hgvs_p": null,
"transcript": "ENST00000849960.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF213",
"gene_hgnc_id": 13005,
"hgvs_c": "c.-134G>T",
"hgvs_p": null,
"transcript": "ENST00000574575.2",
"protein_id": "ENSP00000459293.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF213",
"gene_hgnc_id": 13005,
"hgvs_c": "c.*82G>T",
"hgvs_p": null,
"transcript": "ENST00000573771.1",
"protein_id": "ENSP00000459967.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 50,
"cds_start": -4,
"cds_end": null,
"cds_length": 154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF213",
"gene_hgnc_id": 13005,
"dbsnp": "rs762393927",
"frequency_reference_population": 6.841583e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84158e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3329904079437256,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.4006,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.088,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004220.3",
"gene_symbol": "ZNF213",
"hgnc_id": 13005,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.236G>T",
"hgvs_p": "p.Arg79Leu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000576490.2",
"gene_symbol": "ZNF213-AS1",
"hgnc_id": 50505,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.833+5290C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}