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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: 16-28905467-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28905467&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 28905467,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024816.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1538G>A",
"hgvs_p": "p.Arg513Gln",
"transcript": "NM_024816.3",
"protein_id": "NP_079092.2",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 569,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358201.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024816.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1538G>A",
"hgvs_p": "p.Arg513Gln",
"transcript": "ENST00000358201.9",
"protein_id": "ENSP00000350934.4",
"transcript_support_level": 1,
"aa_start": 513,
"aa_end": null,
"aa_length": 569,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024816.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358201.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1430G>A",
"hgvs_p": "p.Arg477Gln",
"transcript": "ENST00000357573.10",
"protein_id": "ENSP00000350186.6",
"transcript_support_level": 1,
"aa_start": 477,
"aa_end": null,
"aa_length": 533,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357573.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "ENST00000971430.1",
"protein_id": "ENSP00000641489.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 567,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971430.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509Gln",
"transcript": "ENST00000873987.1",
"protein_id": "ENSP00000544046.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 565,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873987.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507Gln",
"transcript": "ENST00000971429.1",
"protein_id": "ENSP00000641488.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 563,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971429.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Gln",
"transcript": "ENST00000971436.1",
"protein_id": "ENSP00000641495.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 537,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971436.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474Gln",
"transcript": "ENST00000971432.1",
"protein_id": "ENSP00000641491.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 530,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971432.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1409G>A",
"hgvs_p": "p.Arg470Gln",
"transcript": "ENST00000873988.1",
"protein_id": "ENSP00000544047.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 526,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873988.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1382G>A",
"hgvs_p": "p.Arg461Gln",
"transcript": "ENST00000971435.1",
"protein_id": "ENSP00000641494.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 517,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971435.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Gln",
"transcript": "ENST00000544477.5",
"protein_id": "ENSP00000442798.1",
"transcript_support_level": 2,
"aa_start": 442,
"aa_end": null,
"aa_length": 498,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544477.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1313G>A",
"hgvs_p": "p.Arg438Gln",
"transcript": "ENST00000873986.1",
"protein_id": "ENSP00000544045.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 494,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873986.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1229G>A",
"hgvs_p": "p.Arg410Gln",
"transcript": "ENST00000971433.1",
"protein_id": "ENSP00000641492.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 466,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971433.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396Gln",
"transcript": "ENST00000971434.1",
"protein_id": "ENSP00000641493.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 452,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971434.1"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.1491+237G>A",
"hgvs_p": null,
"transcript": "ENST00000971431.1",
"protein_id": "ENSP00000641490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": null,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971431.1"
}
],
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"dbsnp": "rs369691572",
"frequency_reference_population": 0.000054680935,
"hom_count_reference_population": 1,
"allele_count_reference_population": 88,
"gnomad_exomes_af": 0.0000507832,
"gnomad_genomes_af": 0.0000920084,
"gnomad_exomes_ac": 74,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3368704319000244,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.146,
"revel_prediction": "Benign",
"alphamissense_score": 0.1149,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.139,
"phylop100way_prediction": "Uncertain_significance",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_024816.3",
"gene_symbol": "RABEP2",
"hgnc_id": 24817,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1538G>A",
"hgvs_p": "p.Arg513Gln"
}
],
"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
}