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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: 14-67782859-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=67782859&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 67782859,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000347230.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE26",
"gene_hgnc_id": 20761,
"hgvs_c": "c.4293G>C",
"hgvs_p": "p.Gln1431His",
"transcript": "NM_015346.4",
"protein_id": "NP_056161.2",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2539,
"cds_start": 4293,
"cds_end": null,
"cds_length": 7620,
"cdna_start": 4433,
"cdna_end": null,
"cdna_length": 9674,
"mane_select": "ENST00000347230.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE26",
"gene_hgnc_id": 20761,
"hgvs_c": "c.4293G>C",
"hgvs_p": "p.Gln1431His",
"transcript": "ENST00000347230.9",
"protein_id": "ENSP00000251119.5",
"transcript_support_level": 1,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2539,
"cds_start": 4293,
"cds_end": null,
"cds_length": 7620,
"cdna_start": 4433,
"cdna_end": null,
"cdna_length": 9674,
"mane_select": "NM_015346.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE26",
"gene_hgnc_id": 20761,
"hgvs_c": "c.4293G>C",
"hgvs_p": "p.Gln1431His",
"transcript": "ENST00000555452.1",
"protein_id": "ENSP00000450603.1",
"transcript_support_level": 1,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2225,
"cds_start": 4293,
"cds_end": null,
"cds_length": 6678,
"cdna_start": 4430,
"cdna_end": null,
"cdna_length": 7309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE26",
"gene_hgnc_id": 20761,
"hgvs_c": "n.4430G>C",
"hgvs_p": null,
"transcript": "ENST00000554523.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 8582,
"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": 40,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ZFYVE26",
"gene_hgnc_id": 20761,
"hgvs_c": "n.*2350+240G>C",
"hgvs_p": null,
"transcript": "ENST00000554557.5",
"protein_id": "ENSP00000450431.1",
"transcript_support_level": 1,
"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": 7466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE26",
"gene_hgnc_id": 20761,
"hgvs_c": "c.4293G>C",
"hgvs_p": "p.Gln1431His",
"transcript": "ENST00000678386.1",
"protein_id": "ENSP00000503677.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2554,
"cds_start": 4293,
"cds_end": null,
"cds_length": 7665,
"cdna_start": 4433,
"cdna_end": null,
"cdna_length": 9719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE26",
"gene_hgnc_id": 20761,
"hgvs_c": "c.4293G>C",
"hgvs_p": "p.Gln1431His",
"transcript": "ENST00000676512.1",
"protein_id": "ENSP00000504552.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2545,
"cds_start": 4293,
"cds_end": null,
"cds_length": 7638,
"cdna_start": 4433,
"cdna_end": null,
"cdna_length": 9692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE26",
"gene_hgnc_id": 20761,
"hgvs_c": "c.4293G>C",
"hgvs_p": "p.Gln1431His",
"transcript": "ENST00000676620.1",
"protein_id": "ENSP00000504587.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2513,
"cds_start": 4293,
"cds_end": null,
"cds_length": 7542,
"cdna_start": 4433,
"cdna_end": null,
"cdna_length": 9596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE26",
"gene_hgnc_id": 20761,
"hgvs_c": "c.4293G>C",
"hgvs_p": "p.Gln1431His",
"transcript": "XM_047431173.1",
"protein_id": "XP_047287129.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2497,
"cds_start": 4293,
"cds_end": null,
"cds_length": 7494,
"cdna_start": 4433,
"cdna_end": null,
"cdna_length": 8484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE26",
"gene_hgnc_id": 20761,
"hgvs_c": "c.1968G>C",
"hgvs_p": "p.Gln656His",
"transcript": "XM_047431174.1",
"protein_id": "XP_047287130.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 1764,
"cds_start": 1968,
"cds_end": null,
"cds_length": 5295,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 7380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE26",
"gene_hgnc_id": 20761,
"hgvs_c": "c.1875G>C",
"hgvs_p": "p.Gln625His",
"transcript": "XM_047431175.1",
"protein_id": "XP_047287131.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 1733,
"cds_start": 1875,
"cds_end": null,
"cds_length": 5202,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 7223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE26",
"gene_hgnc_id": 20761,
"hgvs_c": "c.4293G>C",
"hgvs_p": "p.Gln1431His",
"transcript": "XM_011536609.3",
"protein_id": "XP_011534911.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 1666,
"cds_start": 4293,
"cds_end": null,
"cds_length": 5001,
"cdna_start": 4433,
"cdna_end": null,
"cdna_length": 5243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZFYVE26",
"gene_hgnc_id": 20761,
"dbsnp": "rs373740172",
"frequency_reference_population": 0.00007558373,
"hom_count_reference_population": 0,
"allele_count_reference_population": 122,
"gnomad_exomes_af": 0.000075245,
"gnomad_genomes_af": 0.0000788374,
"gnomad_exomes_ac": 110,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12469550967216492,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.039,
"revel_prediction": "Benign",
"alphamissense_score": 0.1828,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.619,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000347230.9",
"gene_symbol": "ZFYVE26",
"hgnc_id": 20761,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4293G>C",
"hgvs_p": "p.Gln1431His"
}
],
"clinvar_disease": "Hereditary spastic paraplegia,Hereditary spastic paraplegia 15,Inborn genetic diseases,Spastic paraplegia,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1",
"phenotype_combined": "Hereditary spastic paraplegia 15|not specified|Spastic paraplegia|Hereditary spastic paraplegia|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}