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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: 16-23690838-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=23690838&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 23690838,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033266.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERN2",
"gene_hgnc_id": 16942,
"hgvs_c": "c.2774G>A",
"hgvs_p": "p.Gly925Glu",
"transcript": "NM_033266.4",
"protein_id": "NP_150296.4",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 926,
"cds_start": 2774,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256797.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033266.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERN2",
"gene_hgnc_id": 16942,
"hgvs_c": "c.2774G>A",
"hgvs_p": "p.Gly925Glu",
"transcript": "ENST00000256797.9",
"protein_id": "ENSP00000256797.5",
"transcript_support_level": 1,
"aa_start": 925,
"aa_end": null,
"aa_length": 926,
"cds_start": 2774,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033266.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256797.9"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERN2",
"gene_hgnc_id": 16942,
"hgvs_c": "c.2618G>A",
"hgvs_p": "p.Gly873Glu",
"transcript": "ENST00000457008.6",
"protein_id": "ENSP00000413812.2",
"transcript_support_level": 1,
"aa_start": 873,
"aa_end": null,
"aa_length": 874,
"cds_start": 2618,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457008.6"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERN2",
"gene_hgnc_id": 16942,
"hgvs_c": "c.2804G>A",
"hgvs_p": "p.Gly935Glu",
"transcript": "ENST00000885430.1",
"protein_id": "ENSP00000555489.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 936,
"cds_start": 2804,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885430.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERN2",
"gene_hgnc_id": 16942,
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Gly923Glu",
"transcript": "ENST00000885429.1",
"protein_id": "ENSP00000555488.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 924,
"cds_start": 2768,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885429.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERN2",
"gene_hgnc_id": 16942,
"hgvs_c": "c.2720G>A",
"hgvs_p": "p.Gly907Glu",
"transcript": "ENST00000885433.1",
"protein_id": "ENSP00000555492.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 908,
"cds_start": 2720,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885433.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERN2",
"gene_hgnc_id": 16942,
"hgvs_c": "c.2702G>A",
"hgvs_p": "p.Gly901Glu",
"transcript": "ENST00000885424.1",
"protein_id": "ENSP00000555483.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 902,
"cds_start": 2702,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885424.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERN2",
"gene_hgnc_id": 16942,
"hgvs_c": "c.2672G>A",
"hgvs_p": "p.Gly891Glu",
"transcript": "ENST00000885432.1",
"protein_id": "ENSP00000555491.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 892,
"cds_start": 2672,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885432.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERN2",
"gene_hgnc_id": 16942,
"hgvs_c": "c.2618G>A",
"hgvs_p": "p.Gly873Glu",
"transcript": "NM_001308220.2",
"protein_id": "NP_001295149.2",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 874,
"cds_start": 2618,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308220.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERN2",
"gene_hgnc_id": 16942,
"hgvs_c": "c.2612G>A",
"hgvs_p": "p.Gly871Glu",
"transcript": "ENST00000885428.1",
"protein_id": "ENSP00000555487.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 872,
"cds_start": 2612,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885428.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERN2",
"gene_hgnc_id": 16942,
"hgvs_c": "c.2606G>A",
"hgvs_p": "p.Gly869Glu",
"transcript": "ENST00000885426.1",
"protein_id": "ENSP00000555485.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 870,
"cds_start": 2606,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885426.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERN2",
"gene_hgnc_id": 16942,
"hgvs_c": "c.2552G>A",
"hgvs_p": "p.Gly851Glu",
"transcript": "ENST00000885431.1",
"protein_id": "ENSP00000555490.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 852,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885431.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERN2",
"gene_hgnc_id": 16942,
"hgvs_c": "c.2546G>A",
"hgvs_p": "p.Gly849Glu",
"transcript": "ENST00000885427.1",
"protein_id": "ENSP00000555486.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 850,
"cds_start": 2546,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885427.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERN2",
"gene_hgnc_id": 16942,
"hgvs_c": "c.2396G>A",
"hgvs_p": "p.Gly799Glu",
"transcript": "ENST00000885425.1",
"protein_id": "ENSP00000555484.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 800,
"cds_start": 2396,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885425.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERN2",
"gene_hgnc_id": 16942,
"hgvs_c": "c.2342G>A",
"hgvs_p": "p.Gly781Glu",
"transcript": "XM_047433506.1",
"protein_id": "XP_047289462.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 782,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433506.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERN2",
"gene_hgnc_id": 16942,
"hgvs_c": "n.*487G>A",
"hgvs_p": null,
"transcript": "ENST00000562458.2",
"protein_id": "ENSP00000456866.2",
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000562458.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERN2",
"gene_hgnc_id": 16942,
"hgvs_c": "n.*487G>A",
"hgvs_p": null,
"transcript": "ENST00000562458.2",
"protein_id": "ENSP00000456866.2",
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000562458.2"
}
],
"gene_symbol": "ERN2",
"gene_hgnc_id": 16942,
"dbsnp": "rs376486441",
"frequency_reference_population": 0.00013906583,
"hom_count_reference_population": 0,
"allele_count_reference_population": 224,
"gnomad_exomes_af": 0.000146038,
"gnomad_genomes_af": 0.000072261,
"gnomad_exomes_ac": 213,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10207396745681763,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": 0.0757,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.916,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_033266.4",
"gene_symbol": "ERN2",
"hgnc_id": 16942,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2774G>A",
"hgvs_p": "p.Gly925Glu"
}
],
"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
}