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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: 15-34862877-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=34862877&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AQR",
"hgnc_id": 29513,
"hgvs_c": "c.4019C>T",
"hgvs_p": "p.Thr1340Ile",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_014691.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.3708,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.37111353874206543,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1485,
"aa_ref": "T",
"aa_start": 1340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9597,
"cdna_start": 4148,
"cds_end": null,
"cds_length": 4458,
"cds_start": 4019,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_014691.3",
"gene_hgnc_id": 29513,
"gene_symbol": "AQR",
"hgvs_c": "c.4019C>T",
"hgvs_p": "p.Thr1340Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000156471.10",
"protein_coding": true,
"protein_id": "NP_055506.1",
"strand": false,
"transcript": "NM_014691.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1485,
"aa_ref": "T",
"aa_start": 1340,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9597,
"cdna_start": 4148,
"cds_end": null,
"cds_length": 4458,
"cds_start": 4019,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000156471.10",
"gene_hgnc_id": 29513,
"gene_symbol": "AQR",
"hgvs_c": "c.4019C>T",
"hgvs_p": "p.Thr1340Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014691.3",
"protein_coding": true,
"protein_id": "ENSP00000156471.5",
"strand": false,
"transcript": "ENST00000156471.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3637,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000559090.5",
"gene_hgnc_id": 29513,
"gene_symbol": "AQR",
"hgvs_c": "n.2906C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000559090.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1473,
"aa_ref": "T",
"aa_start": 1328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4838,
"cdna_start": 4120,
"cds_end": null,
"cds_length": 4422,
"cds_start": 3983,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000875393.1",
"gene_hgnc_id": 29513,
"gene_symbol": "AQR",
"hgvs_c": "c.3983C>T",
"hgvs_p": "p.Thr1328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545452.1",
"strand": false,
"transcript": "ENST00000875393.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1466,
"aa_ref": "T",
"aa_start": 1321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8046,
"cdna_start": 4099,
"cds_end": null,
"cds_length": 4401,
"cds_start": 3962,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000945427.1",
"gene_hgnc_id": 29513,
"gene_symbol": "AQR",
"hgvs_c": "c.3962C>T",
"hgvs_p": "p.Thr1321Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615486.1",
"strand": false,
"transcript": "ENST00000945427.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "T",
"aa_start": 1305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4724,
"cdna_start": 3998,
"cds_end": null,
"cds_length": 4353,
"cds_start": 3914,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000875395.1",
"gene_hgnc_id": 29513,
"gene_symbol": "AQR",
"hgvs_c": "c.3914C>T",
"hgvs_p": "p.Thr1305Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545454.1",
"strand": false,
"transcript": "ENST00000875395.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1447,
"aa_ref": "T",
"aa_start": 1302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4637,
"cdna_start": 4034,
"cds_end": null,
"cds_length": 4344,
"cds_start": 3905,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000911769.1",
"gene_hgnc_id": 29513,
"gene_symbol": "AQR",
"hgvs_c": "c.3905C>T",
"hgvs_p": "p.Thr1302Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581828.1",
"strand": false,
"transcript": "ENST00000911769.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1439,
"aa_ref": "T",
"aa_start": 1294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4707,
"cdna_start": 3985,
"cds_end": null,
"cds_length": 4320,
"cds_start": 3881,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000875394.1",
"gene_hgnc_id": 29513,
"gene_symbol": "AQR",
"hgvs_c": "c.3881C>T",
"hgvs_p": "p.Thr1294Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545453.1",
"strand": false,
"transcript": "ENST00000875394.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1438,
"aa_ref": "T",
"aa_start": 1293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5713,
"cdna_start": 4013,
"cds_end": null,
"cds_length": 4317,
"cds_start": 3878,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000875392.1",
"gene_hgnc_id": 29513,
"gene_symbol": "AQR",
"hgvs_c": "c.3878C>T",
"hgvs_p": "p.Thr1293Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545451.1",
"strand": false,
"transcript": "ENST00000875392.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1436,
"aa_ref": "T",
"aa_start": 1291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5724,
"cdna_start": 4024,
"cds_end": null,
"cds_length": 4311,
"cds_start": 3872,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000875391.1",
"gene_hgnc_id": 29513,
"gene_symbol": "AQR",
"hgvs_c": "c.3872C>T",
"hgvs_p": "p.Thr1291Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545450.1",
"strand": false,
"transcript": "ENST00000875391.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1428,
"aa_ref": "T",
"aa_start": 1283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4699,
"cdna_start": 3976,
"cds_end": null,
"cds_length": 4287,
"cds_start": 3848,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000945428.1",
"gene_hgnc_id": 29513,
"gene_symbol": "AQR",
"hgvs_c": "c.3848C>T",
"hgvs_p": "p.Thr1283Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615487.1",
"strand": false,
"transcript": "ENST00000945428.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1341,
"aa_ref": "T",
"aa_start": 1196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4393,
"cdna_start": 3669,
"cds_end": null,
"cds_length": 4026,
"cds_start": 3587,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000911768.1",
"gene_hgnc_id": 29513,
"gene_symbol": "AQR",
"hgvs_c": "c.3587C>T",
"hgvs_p": "p.Thr1196Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581827.1",
"strand": false,
"transcript": "ENST00000911768.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 672,
"aa_ref": "T",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": 1722,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1580,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000911767.1",
"gene_hgnc_id": 29513,
"gene_symbol": "AQR",
"hgvs_c": "c.1580C>T",
"hgvs_p": "p.Thr527Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581826.1",
"strand": false,
"transcript": "ENST00000911767.1",
"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": 5722,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000543879.6",
"gene_hgnc_id": 29513,
"gene_symbol": "AQR",
"hgvs_c": "n.*2781C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000445700.2",
"strand": false,
"transcript": "ENST00000543879.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 752,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000559767.1",
"gene_hgnc_id": 29513,
"gene_symbol": "AQR",
"hgvs_c": "n.348C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000559767.1",
"transcript_support_level": 2
},
{
"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": 5722,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000543879.6",
"gene_hgnc_id": 29513,
"gene_symbol": "AQR",
"hgvs_c": "n.*2781C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000445700.2",
"strand": false,
"transcript": "ENST00000543879.6",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1595779493",
"effect": "missense_variant",
"frequency_reference_population": 6.84355e-7,
"gene_hgnc_id": 29513,
"gene_symbol": "AQR",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84355e-7,
"gnomad_exomes_homalt": 0,
"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": "Pathogenic",
"phylop100way_score": 8.004,
"pos": 34862877,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.573,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_014691.3"
}
]
}