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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: 16-1947009-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1947009&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1947009,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005061.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3L",
"gene_hgnc_id": 10351,
"hgvs_c": "c.778G>C",
"hgvs_p": "p.Ala260Pro",
"transcript": "NM_005061.3",
"protein_id": "NP_005052.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 407,
"cds_start": 778,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000268661.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005061.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3L",
"gene_hgnc_id": 10351,
"hgvs_c": "c.778G>C",
"hgvs_p": "p.Ala260Pro",
"transcript": "ENST00000268661.8",
"protein_id": "ENSP00000268661.7",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 407,
"cds_start": 778,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005061.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268661.8"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3L",
"gene_hgnc_id": 10351,
"hgvs_c": "c.853G>C",
"hgvs_p": "p.Ala285Pro",
"transcript": "ENST00000968104.1",
"protein_id": "ENSP00000638163.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 432,
"cds_start": 853,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968104.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3L",
"gene_hgnc_id": 10351,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Ala280Pro",
"transcript": "ENST00000968108.1",
"protein_id": "ENSP00000638167.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 427,
"cds_start": 838,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968108.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3L",
"gene_hgnc_id": 10351,
"hgvs_c": "c.793G>C",
"hgvs_p": "p.Ala265Pro",
"transcript": "ENST00000902258.1",
"protein_id": "ENSP00000572317.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 412,
"cds_start": 793,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902258.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3L",
"gene_hgnc_id": 10351,
"hgvs_c": "c.766G>C",
"hgvs_p": "p.Ala256Pro",
"transcript": "ENST00000968111.1",
"protein_id": "ENSP00000638170.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 403,
"cds_start": 766,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968111.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3L",
"gene_hgnc_id": 10351,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Ala252Pro",
"transcript": "ENST00000968109.1",
"protein_id": "ENSP00000638168.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 399,
"cds_start": 754,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968109.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3L",
"gene_hgnc_id": 10351,
"hgvs_c": "c.751G>C",
"hgvs_p": "p.Ala251Pro",
"transcript": "ENST00000968103.1",
"protein_id": "ENSP00000638162.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 398,
"cds_start": 751,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968103.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3L",
"gene_hgnc_id": 10351,
"hgvs_c": "c.694G>C",
"hgvs_p": "p.Ala232Pro",
"transcript": "ENST00000968110.1",
"protein_id": "ENSP00000638169.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 379,
"cds_start": 694,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968110.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3L",
"gene_hgnc_id": 10351,
"hgvs_c": "c.778G>C",
"hgvs_p": "p.Ala260Pro",
"transcript": "ENST00000968105.1",
"protein_id": "ENSP00000638164.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 373,
"cds_start": 778,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968105.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3L",
"gene_hgnc_id": 10351,
"hgvs_c": "c.793G>C",
"hgvs_p": "p.Ala265Pro",
"transcript": "ENST00000968107.1",
"protein_id": "ENSP00000638166.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 372,
"cds_start": 793,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968107.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3L",
"gene_hgnc_id": 10351,
"hgvs_c": "c.778G>C",
"hgvs_p": "p.Ala260Pro",
"transcript": "ENST00000902259.1",
"protein_id": "ENSP00000572318.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 367,
"cds_start": 778,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902259.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3L",
"gene_hgnc_id": 10351,
"hgvs_c": "c.793G>C",
"hgvs_p": "p.Ala265Pro",
"transcript": "XM_011522571.3",
"protein_id": "XP_011520873.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 412,
"cds_start": 793,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522571.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3L",
"gene_hgnc_id": 10351,
"hgvs_c": "c.801G>C",
"hgvs_p": "p.Pro267Pro",
"transcript": "ENST00000968106.1",
"protein_id": "ENSP00000638165.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 409,
"cds_start": 801,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968106.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3L",
"gene_hgnc_id": 10351,
"hgvs_c": "c.768G>C",
"hgvs_p": "p.Pro256Pro",
"transcript": "ENST00000968112.1",
"protein_id": "ENSP00000638171.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 398,
"cds_start": 768,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968112.1"
}
],
"gene_symbol": "RPL3L",
"gene_hgnc_id": 10351,
"dbsnp": "rs140373999",
"frequency_reference_population": 0.00003473816,
"hom_count_reference_population": 0,
"allele_count_reference_population": 56,
"gnomad_exomes_af": 0.0000191822,
"gnomad_genomes_af": 0.000183763,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 28,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7164290547370911,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.428,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3872,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.931,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_005061.3",
"gene_symbol": "RPL3L",
"hgnc_id": 10351,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.778G>C",
"hgvs_p": "p.Ala260Pro"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}