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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: 8-17156752-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17156752&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZDHHC2",
"hgnc_id": 18469,
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_016353.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000298219",
"hgnc_id": null,
"hgvs_c": "n.148+218G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000753965.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0885,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "8",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11970752477645874,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 367,
"aa_ref": "A",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5924,
"cdna_start": 271,
"cds_end": null,
"cds_length": 1104,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_016353.5",
"gene_hgnc_id": 18469,
"gene_symbol": "ZDHHC2",
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262096.13",
"protein_coding": true,
"protein_id": "NP_057437.1",
"strand": true,
"transcript": "NM_016353.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 367,
"aa_ref": "A",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5924,
"cdna_start": 271,
"cds_end": null,
"cds_length": 1104,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000262096.13",
"gene_hgnc_id": 18469,
"gene_symbol": "ZDHHC2",
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016353.5",
"protein_coding": true,
"protein_id": "ENSP00000262096.8",
"strand": true,
"transcript": "ENST00000262096.13",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 394,
"aa_ref": "A",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2161,
"cdna_start": 779,
"cds_end": null,
"cds_length": 1185,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000955296.1",
"gene_hgnc_id": 18469,
"gene_symbol": "ZDHHC2",
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625355.1",
"strand": true,
"transcript": "ENST00000955296.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 367,
"aa_ref": "A",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3853,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1104,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000955297.1",
"gene_hgnc_id": 18469,
"gene_symbol": "ZDHHC2",
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625356.1",
"strand": true,
"transcript": "ENST00000955297.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 336,
"aa_ref": "A",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6296,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1011,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000929075.1",
"gene_hgnc_id": 18469,
"gene_symbol": "ZDHHC2",
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599134.1",
"strand": true,
"transcript": "ENST00000929075.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 209,
"aa_ref": "A",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3374,
"cdna_start": 262,
"cds_end": null,
"cds_length": 630,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000955295.1",
"gene_hgnc_id": 18469,
"gene_symbol": "ZDHHC2",
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625354.1",
"strand": true,
"transcript": "ENST00000955295.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6046,
"cdna_start": 271,
"cds_end": null,
"cds_length": 1239,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011544544.4",
"gene_hgnc_id": 18469,
"gene_symbol": "ZDHHC2",
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Arg14Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542846.1",
"strand": true,
"transcript": "XM_011544544.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 383,
"aa_ref": "R",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5959,
"cdna_start": 271,
"cds_end": null,
"cds_length": 1152,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011544545.4",
"gene_hgnc_id": 18469,
"gene_symbol": "ZDHHC2",
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Arg14Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542847.1",
"strand": true,
"transcript": "XM_011544545.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 203,
"aa_ref": "R",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 897,
"cdna_start": 271,
"cds_end": null,
"cds_length": 612,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011544549.4",
"gene_hgnc_id": 18469,
"gene_symbol": "ZDHHC2",
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Arg14Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542851.1",
"strand": true,
"transcript": "XM_011544549.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 445,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000753965.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000298219",
"hgvs_c": "n.148+218G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000753965.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 904,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000753966.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000298219",
"hgvs_c": "n.168+218G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000753966.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 564,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000753967.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000298219",
"hgvs_c": "n.175+218G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000753967.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 443,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000753968.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000298219",
"hgvs_c": "n.168+218G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000753968.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 533,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000753969.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000298219",
"hgvs_c": "n.148+218G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000753969.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 520,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000753970.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000298219",
"hgvs_c": "n.132+148G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000753970.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 18469,
"gene_symbol": "ZDHHC2",
"gnomad_exomes_ac": 0,
"gnomad_exomes_af": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.042,
"pos": 17156752,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.257,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_016353.5"
}
]
}