← Back to variant description
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: 1-84501918-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=84501918&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 84501918,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005274.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNG5",
"gene_hgnc_id": 4408,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.His45Arg",
"transcript": "NM_005274.3",
"protein_id": "NP_005265.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 68,
"cds_start": 134,
"cds_end": null,
"cds_length": 207,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 806,
"mane_select": "ENST00000370645.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005274.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNG5",
"gene_hgnc_id": 4408,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.His45Arg",
"transcript": "ENST00000370645.9",
"protein_id": "ENSP00000359679.4",
"transcript_support_level": 2,
"aa_start": 45,
"aa_end": null,
"aa_length": 68,
"cds_start": 134,
"cds_end": null,
"cds_length": 207,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 806,
"mane_select": "NM_005274.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370645.9"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNG5",
"gene_hgnc_id": 4408,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.His45Arg",
"transcript": "ENST00000370641.3",
"protein_id": "ENSP00000359675.3",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 68,
"cds_start": 134,
"cds_end": null,
"cds_length": 207,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370641.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNG5",
"gene_hgnc_id": 4408,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.His45Arg",
"transcript": "ENST00000686161.1",
"protein_id": "ENSP00000510172.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 68,
"cds_start": 134,
"cds_end": null,
"cds_length": 207,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686161.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNG5",
"gene_hgnc_id": 4408,
"hgvs_c": "c.134A>G",
"hgvs_p": "p.His45Arg",
"transcript": "ENST00000880086.1",
"protein_id": "ENSP00000550145.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 68,
"cds_start": 134,
"cds_end": null,
"cds_length": 207,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 1169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880086.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNG5",
"gene_hgnc_id": 4408,
"hgvs_c": "c.128A>G",
"hgvs_p": "p.His43Arg",
"transcript": "ENST00000923435.1",
"protein_id": "ENSP00000593494.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 66,
"cds_start": 128,
"cds_end": null,
"cds_length": 201,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923435.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNG5",
"gene_hgnc_id": 4408,
"hgvs_c": "n.241A>G",
"hgvs_p": null,
"transcript": "ENST00000487806.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 557,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000487806.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285851",
"gene_hgnc_id": null,
"hgvs_c": "n.2395A>G",
"hgvs_p": null,
"transcript": "ENST00000649871.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000649871.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNG5",
"gene_hgnc_id": 4408,
"hgvs_c": "n.672A>G",
"hgvs_p": null,
"transcript": "ENST00000689285.1",
"protein_id": null,
"transcript_support_level": null,
"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": 990,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000689285.1"
}
],
"gene_symbol": "GNG5",
"gene_hgnc_id": 4408,
"dbsnp": "rs551788534",
"frequency_reference_population": 0.000013703477,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000103222,
"gnomad_genomes_af": 0.0000459776,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0996353030204773,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.1228,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.674,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_005274.3",
"gene_symbol": "GNG5",
"hgnc_id": 4408,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.134A>G",
"hgvs_p": "p.His45Arg"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000649871.1",
"gene_symbol": "ENSG00000285851",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2395A>G",
"hgvs_p": null
}
],
"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
}