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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: 8-17198394-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17198394&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 17198394,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016353.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC2",
"gene_hgnc_id": 18469,
"hgvs_c": "c.457A>G",
"hgvs_p": "p.Met153Val",
"transcript": "NM_016353.5",
"protein_id": "NP_057437.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 367,
"cds_start": 457,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262096.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016353.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC2",
"gene_hgnc_id": 18469,
"hgvs_c": "c.457A>G",
"hgvs_p": "p.Met153Val",
"transcript": "ENST00000262096.13",
"protein_id": "ENSP00000262096.8",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 367,
"cds_start": 457,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016353.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262096.13"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC2",
"gene_hgnc_id": 18469,
"hgvs_c": "c.538A>G",
"hgvs_p": "p.Met180Val",
"transcript": "ENST00000955296.1",
"protein_id": "ENSP00000625355.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 394,
"cds_start": 538,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955296.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC2",
"gene_hgnc_id": 18469,
"hgvs_c": "c.457A>G",
"hgvs_p": "p.Met153Val",
"transcript": "ENST00000955297.1",
"protein_id": "ENSP00000625356.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 367,
"cds_start": 457,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955297.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC2",
"gene_hgnc_id": 18469,
"hgvs_c": "c.373A>G",
"hgvs_p": "p.Met125Val",
"transcript": "NM_001362988.2",
"protein_id": "NP_001349917.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 339,
"cds_start": 373,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362988.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC2",
"gene_hgnc_id": 18469,
"hgvs_c": "c.457A>G",
"hgvs_p": "p.Met153Val",
"transcript": "ENST00000929075.1",
"protein_id": "ENSP00000599134.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 336,
"cds_start": 457,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929075.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC2",
"gene_hgnc_id": 18469,
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Met108Val",
"transcript": "NM_001362989.2",
"protein_id": "NP_001349918.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 322,
"cds_start": 322,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362989.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC2",
"gene_hgnc_id": 18469,
"hgvs_c": "c.457A>G",
"hgvs_p": "p.Met153Val",
"transcript": "ENST00000955295.1",
"protein_id": "ENSP00000625354.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 209,
"cds_start": 457,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955295.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC2",
"gene_hgnc_id": 18469,
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Met108Val",
"transcript": "ENST00000522184.1",
"protein_id": "ENSP00000430317.1",
"transcript_support_level": 3,
"aa_start": 108,
"aa_end": null,
"aa_length": 129,
"cds_start": 322,
"cds_end": null,
"cds_length": 391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522184.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC2",
"gene_hgnc_id": 18469,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Met198Val",
"transcript": "XM_011544544.4",
"protein_id": "XP_011542846.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 412,
"cds_start": 592,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544544.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC2",
"gene_hgnc_id": 18469,
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Met169Val",
"transcript": "XM_011544545.4",
"protein_id": "XP_011542847.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 383,
"cds_start": 505,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544545.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC2",
"gene_hgnc_id": 18469,
"hgvs_c": "c.460A>G",
"hgvs_p": "p.Met154Val",
"transcript": "XM_011544546.4",
"protein_id": "XP_011542848.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 368,
"cds_start": 460,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544546.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC2",
"gene_hgnc_id": 18469,
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Met108Val",
"transcript": "XM_024447177.2",
"protein_id": "XP_024302945.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 322,
"cds_start": 322,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447177.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC2",
"gene_hgnc_id": 18469,
"hgvs_c": "c.289A>G",
"hgvs_p": "p.Met97Val",
"transcript": "XM_011544548.4",
"protein_id": "XP_011542850.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 311,
"cds_start": 289,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544548.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC2",
"gene_hgnc_id": 18469,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Met198Val",
"transcript": "XM_011544549.4",
"protein_id": "XP_011542851.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 203,
"cds_start": 592,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544549.4"
}
],
"gene_symbol": "ZDHHC2",
"gene_hgnc_id": 18469,
"dbsnp": "rs1348619639",
"frequency_reference_population": 0.0000012477727,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.89319e-7,
"gnomad_genomes_af": 0.00000657255,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6862998604774475,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.44,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9865,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.729,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016353.5",
"gene_symbol": "ZDHHC2",
"hgnc_id": 18469,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.457A>G",
"hgvs_p": "p.Met153Val"
}
],
"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
}