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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: 10-113597319-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=113597319&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 113597319,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000359988.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.4333-135C>A",
"hgvs_p": null,
"transcript": "NM_198060.4",
"protein_id": "NP_932326.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1730,
"cds_start": -4,
"cds_end": null,
"cds_length": 5193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5613,
"mane_select": "ENST00000359988.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.4333-135C>A",
"hgvs_p": null,
"transcript": "ENST00000359988.4",
"protein_id": "ENSP00000353078.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1730,
"cds_start": -4,
"cds_end": null,
"cds_length": 5193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5613,
"mane_select": "NM_198060.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.4333-135C>A",
"hgvs_p": null,
"transcript": "ENST00000369358.8",
"protein_id": "ENSP00000358365.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1731,
"cds_start": -4,
"cds_end": null,
"cds_length": 5196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.4228-135C>A",
"hgvs_p": null,
"transcript": "ENST00000360478.7",
"protein_id": "ENSP00000353666.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1695,
"cds_start": -4,
"cds_end": null,
"cds_length": 5088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.4333-135C>A",
"hgvs_p": null,
"transcript": "NM_001261463.2",
"protein_id": "NP_001248392.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1731,
"cds_start": -4,
"cds_end": null,
"cds_length": 5196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.4252-135C>A",
"hgvs_p": null,
"transcript": "ENST00000369360.7",
"protein_id": "ENSP00000358367.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1703,
"cds_start": -4,
"cds_end": null,
"cds_length": 5112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.4228-135C>A",
"hgvs_p": null,
"transcript": "NM_006175.5",
"protein_id": "NP_006166.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1695,
"cds_start": -4,
"cds_end": null,
"cds_length": 5088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.4225-135C>A",
"hgvs_p": null,
"transcript": "NM_001322945.2",
"protein_id": "NP_001309874.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1694,
"cds_start": -4,
"cds_end": null,
"cds_length": 5085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.4228-135C>A",
"hgvs_p": null,
"transcript": "XM_005269864.3",
"protein_id": "XP_005269921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1696,
"cds_start": -4,
"cds_end": null,
"cds_length": 5091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.4228-135C>A",
"hgvs_p": null,
"transcript": "XM_006717870.3",
"protein_id": "XP_006717933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1696,
"cds_start": -4,
"cds_end": null,
"cds_length": 5091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.4225-135C>A",
"hgvs_p": null,
"transcript": "XM_005269865.3",
"protein_id": "XP_005269922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1695,
"cds_start": -4,
"cds_end": null,
"cds_length": 5088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.4333-135C>A",
"hgvs_p": null,
"transcript": "XM_011539832.3",
"protein_id": "XP_011538134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1695,
"cds_start": -4,
"cds_end": null,
"cds_length": 5088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.4228-135C>A",
"hgvs_p": null,
"transcript": "XM_047425253.1",
"protein_id": "XP_047281209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1695,
"cds_start": -4,
"cds_end": null,
"cds_length": 5088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.4021-135C>A",
"hgvs_p": null,
"transcript": "XM_005269867.3",
"protein_id": "XP_005269924.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1627,
"cds_start": -4,
"cds_end": null,
"cds_length": 4884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.4021-135C>A",
"hgvs_p": null,
"transcript": "XM_024448029.2",
"protein_id": "XP_024303797.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1626,
"cds_start": -4,
"cds_end": null,
"cds_length": 4881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"dbsnp": "rs12241995",
"frequency_reference_population": 0.000006187557,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000618756,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.278,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000359988.4",
"gene_symbol": "NRAP",
"hgnc_id": 7988,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4333-135C>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
}