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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: 15-34857070-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=34857070&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 34857070,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014691.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.4180G>A",
"hgvs_p": "p.Gly1394Ser",
"transcript": "NM_014691.3",
"protein_id": "NP_055506.1",
"transcript_support_level": null,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1485,
"cds_start": 4180,
"cds_end": null,
"cds_length": 4458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000156471.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014691.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.4180G>A",
"hgvs_p": "p.Gly1394Ser",
"transcript": "ENST00000156471.10",
"protein_id": "ENSP00000156471.5",
"transcript_support_level": 1,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1485,
"cds_start": 4180,
"cds_end": null,
"cds_length": 4458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014691.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000156471.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "n.3067G>A",
"hgvs_p": null,
"transcript": "ENST00000559090.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000559090.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.4144G>A",
"hgvs_p": "p.Gly1382Ser",
"transcript": "ENST00000875393.1",
"protein_id": "ENSP00000545452.1",
"transcript_support_level": null,
"aa_start": 1382,
"aa_end": null,
"aa_length": 1473,
"cds_start": 4144,
"cds_end": null,
"cds_length": 4422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875393.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.4123G>A",
"hgvs_p": "p.Gly1375Ser",
"transcript": "ENST00000945427.1",
"protein_id": "ENSP00000615486.1",
"transcript_support_level": null,
"aa_start": 1375,
"aa_end": null,
"aa_length": 1466,
"cds_start": 4123,
"cds_end": null,
"cds_length": 4401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945427.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.4075G>A",
"hgvs_p": "p.Gly1359Ser",
"transcript": "ENST00000875395.1",
"protein_id": "ENSP00000545454.1",
"transcript_support_level": null,
"aa_start": 1359,
"aa_end": null,
"aa_length": 1450,
"cds_start": 4075,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875395.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.4066G>A",
"hgvs_p": "p.Gly1356Ser",
"transcript": "ENST00000911769.1",
"protein_id": "ENSP00000581828.1",
"transcript_support_level": null,
"aa_start": 1356,
"aa_end": null,
"aa_length": 1447,
"cds_start": 4066,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911769.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.4042G>A",
"hgvs_p": "p.Gly1348Ser",
"transcript": "ENST00000875394.1",
"protein_id": "ENSP00000545453.1",
"transcript_support_level": null,
"aa_start": 1348,
"aa_end": null,
"aa_length": 1439,
"cds_start": 4042,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875394.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.4039G>A",
"hgvs_p": "p.Gly1347Ser",
"transcript": "ENST00000875392.1",
"protein_id": "ENSP00000545451.1",
"transcript_support_level": null,
"aa_start": 1347,
"aa_end": null,
"aa_length": 1438,
"cds_start": 4039,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875392.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.4033G>A",
"hgvs_p": "p.Gly1345Ser",
"transcript": "ENST00000875391.1",
"protein_id": "ENSP00000545450.1",
"transcript_support_level": null,
"aa_start": 1345,
"aa_end": null,
"aa_length": 1436,
"cds_start": 4033,
"cds_end": null,
"cds_length": 4311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875391.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.4009G>A",
"hgvs_p": "p.Gly1337Ser",
"transcript": "ENST00000945428.1",
"protein_id": "ENSP00000615487.1",
"transcript_support_level": null,
"aa_start": 1337,
"aa_end": null,
"aa_length": 1428,
"cds_start": 4009,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945428.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3748G>A",
"hgvs_p": "p.Gly1250Ser",
"transcript": "ENST00000911768.1",
"protein_id": "ENSP00000581827.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3748,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911768.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.1741G>A",
"hgvs_p": "p.Gly581Ser",
"transcript": "ENST00000911767.1",
"protein_id": "ENSP00000581826.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 672,
"cds_start": 1741,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911767.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "n.*2942G>A",
"hgvs_p": null,
"transcript": "ENST00000543879.6",
"protein_id": "ENSP00000445700.2",
"transcript_support_level": 2,
"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": "ENST00000543879.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "n.509G>A",
"hgvs_p": null,
"transcript": "ENST00000559767.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000559767.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "n.*2942G>A",
"hgvs_p": null,
"transcript": "ENST00000543879.6",
"protein_id": "ENSP00000445700.2",
"transcript_support_level": 2,
"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": "ENST00000543879.6"
}
],
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"dbsnp": "rs758444517",
"frequency_reference_population": 0.0000031155444,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000275292,
"gnomad_genomes_af": 0.00000658536,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02285948395729065,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.0643,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.681,
"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": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_014691.3",
"gene_symbol": "AQR",
"hgnc_id": 29513,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4180G>A",
"hgvs_p": "p.Gly1394Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}