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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: 16-23691008-TC-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=23691008&ref=TC&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ERN2",
"hgnc_id": 16942,
"hgvs_c": "c.2603_2604delGAinsAG",
"hgvs_p": "p.Arg868Gln",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_033266.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 926,
"aa_ref": "R",
"aa_start": 868,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 2639,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2603,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_033266.4",
"gene_hgnc_id": 16942,
"gene_symbol": "ERN2",
"hgvs_c": "c.2603_2604delGAinsAG",
"hgvs_p": "p.Arg868Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000256797.9",
"protein_coding": true,
"protein_id": "NP_150296.4",
"strand": false,
"transcript": "NM_033266.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 926,
"aa_ref": "R",
"aa_start": 868,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 2639,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2603,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000256797.9",
"gene_hgnc_id": 16942,
"gene_symbol": "ERN2",
"hgvs_c": "c.2603_2604delGAinsAG",
"hgvs_p": "p.Arg868Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033266.4",
"protein_coding": true,
"protein_id": "ENSP00000256797.5",
"strand": false,
"transcript": "ENST00000256797.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 874,
"aa_ref": "R",
"aa_start": 816,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3169,
"cdna_start": 2487,
"cds_end": null,
"cds_length": 2625,
"cds_start": 2447,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000457008.6",
"gene_hgnc_id": 16942,
"gene_symbol": "ERN2",
"hgvs_c": "c.2447_2448delGAinsAG",
"hgvs_p": "p.Arg816Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413812.2",
"strand": false,
"transcript": "ENST00000457008.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 936,
"aa_ref": "R",
"aa_start": 878,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3364,
"cdna_start": 2679,
"cds_end": null,
"cds_length": 2811,
"cds_start": 2633,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885430.1",
"gene_hgnc_id": 16942,
"gene_symbol": "ERN2",
"hgvs_c": "c.2633_2634delGAinsAG",
"hgvs_p": "p.Arg878Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555489.1",
"strand": false,
"transcript": "ENST00000885430.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 924,
"aa_ref": "R",
"aa_start": 866,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 2632,
"cds_end": null,
"cds_length": 2775,
"cds_start": 2597,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885429.1",
"gene_hgnc_id": 16942,
"gene_symbol": "ERN2",
"hgvs_c": "c.2597_2598delGAinsAG",
"hgvs_p": "p.Arg866Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555488.1",
"strand": false,
"transcript": "ENST00000885429.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 908,
"aa_ref": "R",
"aa_start": 850,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3209,
"cdna_start": 2569,
"cds_end": null,
"cds_length": 2727,
"cds_start": 2549,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885433.1",
"gene_hgnc_id": 16942,
"gene_symbol": "ERN2",
"hgvs_c": "c.2549_2550delGAinsAG",
"hgvs_p": "p.Arg850Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555492.1",
"strand": false,
"transcript": "ENST00000885433.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 844,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3316,
"cdna_start": 2600,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2531,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885424.1",
"gene_hgnc_id": 16942,
"gene_symbol": "ERN2",
"hgvs_c": "c.2531_2532delGAinsAG",
"hgvs_p": "p.Arg844Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555483.1",
"strand": false,
"transcript": "ENST00000885424.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 892,
"aa_ref": "R",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": 2555,
"cds_end": null,
"cds_length": 2679,
"cds_start": 2501,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885432.1",
"gene_hgnc_id": 16942,
"gene_symbol": "ERN2",
"hgvs_c": "c.2501_2502delGAinsAG",
"hgvs_p": "p.Arg834Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555491.1",
"strand": false,
"transcript": "ENST00000885432.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 874,
"aa_ref": "R",
"aa_start": 816,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3181,
"cdna_start": 2483,
"cds_end": null,
"cds_length": 2625,
"cds_start": 2447,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001308220.2",
"gene_hgnc_id": 16942,
"gene_symbol": "ERN2",
"hgvs_c": "c.2447_2448delGAinsAG",
"hgvs_p": "p.Arg816Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295149.2",
"strand": false,
"transcript": "NM_001308220.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 872,
"aa_ref": "R",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3181,
"cdna_start": 2477,
"cds_end": null,
"cds_length": 2619,
"cds_start": 2441,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885428.1",
"gene_hgnc_id": 16942,
"gene_symbol": "ERN2",
"hgvs_c": "c.2441_2442delGAinsAG",
"hgvs_p": "p.Arg814Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555487.1",
"strand": false,
"transcript": "ENST00000885428.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 870,
"aa_ref": "R",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": 2500,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2435,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885426.1",
"gene_hgnc_id": 16942,
"gene_symbol": "ERN2",
"hgvs_c": "c.2435_2436delGAinsAG",
"hgvs_p": "p.Arg812Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555485.1",
"strand": false,
"transcript": "ENST00000885426.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 852,
"aa_ref": "R",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": 2450,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2381,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885431.1",
"gene_hgnc_id": 16942,
"gene_symbol": "ERN2",
"hgvs_c": "c.2381_2382delGAinsAG",
"hgvs_p": "p.Arg794Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555490.1",
"strand": false,
"transcript": "ENST00000885431.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 850,
"aa_ref": "R",
"aa_start": 792,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": 2421,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2375,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885427.1",
"gene_hgnc_id": 16942,
"gene_symbol": "ERN2",
"hgvs_c": "c.2375_2376delGAinsAG",
"hgvs_p": "p.Arg792Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555486.1",
"strand": false,
"transcript": "ENST00000885427.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 800,
"aa_ref": "R",
"aa_start": 742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": 2271,
"cds_end": null,
"cds_length": 2403,
"cds_start": 2225,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885425.1",
"gene_hgnc_id": 16942,
"gene_symbol": "ERN2",
"hgvs_c": "c.2225_2226delGAinsAG",
"hgvs_p": "p.Arg742Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555484.1",
"strand": false,
"transcript": "ENST00000885425.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 782,
"aa_ref": "R",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3038,
"cdna_start": 2340,
"cds_end": null,
"cds_length": 2349,
"cds_start": 2171,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433506.1",
"gene_hgnc_id": 16942,
"gene_symbol": "ERN2",
"hgvs_c": "c.2171_2172delGAinsAG",
"hgvs_p": "p.Arg724Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289462.1",
"strand": false,
"transcript": "XM_047433506.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 759,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000562458.2",
"gene_hgnc_id": 16942,
"gene_symbol": "ERN2",
"hgvs_c": "n.*316_*317delGAinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456866.2",
"strand": false,
"transcript": "ENST00000562458.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 759,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000562458.2",
"gene_hgnc_id": 16942,
"gene_symbol": "ERN2",
"hgvs_c": "n.*316_*317delGAinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456866.2",
"strand": false,
"transcript": "ENST00000562458.2",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 16942,
"gene_symbol": "ERN2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.09,
"pos": 23691008,
"ref": "TC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_033266.4"
}
]
}