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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: 5-150895582-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150895582&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150895582,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001172831.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF300",
"gene_hgnc_id": 13091,
"hgvs_c": "c.1657G>C",
"hgvs_p": "p.Glu553Gln",
"transcript": "NM_052860.4",
"protein_id": "NP_443092.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 604,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000274599.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052860.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF300",
"gene_hgnc_id": 13091,
"hgvs_c": "c.1657G>C",
"hgvs_p": "p.Glu553Gln",
"transcript": "ENST00000274599.10",
"protein_id": "ENSP00000274599.5",
"transcript_support_level": 1,
"aa_start": 553,
"aa_end": null,
"aa_length": 604,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052860.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274599.10"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF300",
"gene_hgnc_id": 13091,
"hgvs_c": "c.1657G>C",
"hgvs_p": "p.Glu553Gln",
"transcript": "ENST00000446148.7",
"protein_id": "ENSP00000397178.3",
"transcript_support_level": 1,
"aa_start": 553,
"aa_end": null,
"aa_length": 604,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446148.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IRGM",
"gene_hgnc_id": 29597,
"hgvs_c": "n.*141-5007C>G",
"hgvs_p": null,
"transcript": "ENST00000520549.1",
"protein_id": "ENSP00000429819.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000520549.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF300",
"gene_hgnc_id": 13091,
"hgvs_c": "c.1705G>C",
"hgvs_p": "p.Glu569Gln",
"transcript": "NM_001172831.3",
"protein_id": "NP_001166302.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 620,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172831.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF300",
"gene_hgnc_id": 13091,
"hgvs_c": "c.1549G>C",
"hgvs_p": "p.Glu517Gln",
"transcript": "NM_001172832.3",
"protein_id": "NP_001166303.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 568,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172832.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF300",
"gene_hgnc_id": 13091,
"hgvs_c": "c.1672G>C",
"hgvs_p": "p.Glu558Gln",
"transcript": "XM_047417874.1",
"protein_id": "XP_047273830.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 609,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417874.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF300",
"gene_hgnc_id": 13091,
"hgvs_c": "c.*2472G>C",
"hgvs_p": null,
"transcript": "ENST00000427179.5",
"protein_id": "ENSP00000414195.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 90,
"cds_start": null,
"cds_end": null,
"cds_length": 273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427179.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IRGM",
"gene_hgnc_id": 29597,
"hgvs_c": "c.594-5007C>G",
"hgvs_p": null,
"transcript": "NM_001346557.2",
"protein_id": "NP_001333486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 214,
"cds_start": null,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346557.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IRGM",
"gene_hgnc_id": 29597,
"hgvs_c": "n.1844-5007C>G",
"hgvs_p": null,
"transcript": "NR_170598.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170598.1"
}
],
"gene_symbol": "ZNF300",
"gene_hgnc_id": 13091,
"dbsnp": "rs942904034",
"frequency_reference_population": 6.8429875e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84299e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12227755784988403,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.1544,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.157,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001172831.3",
"gene_symbol": "ZNF300",
"hgnc_id": 13091,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1705G>C",
"hgvs_p": "p.Glu569Gln"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001346557.2",
"gene_symbol": "IRGM",
"hgnc_id": 29597,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.594-5007C>G",
"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
}