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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: 5-74636069-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=74636069&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 74636069,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000302351.9",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.Phe139Leu",
"transcript": "NM_003633.4",
"protein_id": "NP_003624.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 589,
"cds_start": 417,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 4821,
"mane_select": "ENST00000302351.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"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": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.Phe139Leu",
"transcript": "ENST00000302351.9",
"protein_id": "ENSP00000306356.4",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 589,
"cds_start": 417,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 4821,
"mane_select": "NM_003633.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.Phe139Leu",
"transcript": "NM_001256574.2",
"protein_id": "NP_001243503.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 589,
"cds_start": 417,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 4958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.Phe139Leu",
"transcript": "NM_001256575.2",
"protein_id": "NP_001243504.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 589,
"cds_start": 417,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 4946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.Phe139Leu",
"transcript": "ENST00000618628.4",
"protein_id": "ENSP00000479101.1",
"transcript_support_level": 5,
"aa_start": 139,
"aa_end": null,
"aa_length": 589,
"cds_start": 417,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.Phe139Leu",
"transcript": "ENST00000651128.1",
"protein_id": "ENSP00000499185.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 589,
"cds_start": 417,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 3338,
"cdna_end": null,
"cdna_length": 7285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.198C>G",
"hgvs_p": "p.Phe66Leu",
"transcript": "NM_001256576.2",
"protein_id": "NP_001243505.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 516,
"cds_start": 198,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.198C>G",
"hgvs_p": "p.Phe66Leu",
"transcript": "ENST00000510316.5",
"protein_id": "ENSP00000423804.1",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 516,
"cds_start": 198,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 5381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.Phe139Leu",
"transcript": "XM_011543696.4",
"protein_id": "XP_011541998.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 589,
"cds_start": 417,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 5029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.Phe139Leu",
"transcript": "XM_011543697.4",
"protein_id": "XP_011541999.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 589,
"cds_start": 417,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENC1",
"gene_hgnc_id": 3345,
"hgvs_c": "n.422+4238C>G",
"hgvs_p": null,
"transcript": "NR_046318.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ENC1",
"gene_hgnc_id": 3345,
"dbsnp": "rs1261705893",
"frequency_reference_population": 6.840507e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84051e-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": 0.9303584098815918,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.727,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9984,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.261,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000302351.9",
"gene_symbol": "ENC1",
"hgnc_id": 3345,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.417C>G",
"hgvs_p": "p.Phe139Leu"
}
],
"clinvar_disease": "ENC1-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "ENC1-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}