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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: 7-149178690-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=149178690&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 149178690,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_170686.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF398",
"gene_hgnc_id": 18373,
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Ser273Leu",
"transcript": "NM_170686.3",
"protein_id": "NP_733787.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 642,
"cds_start": 818,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000475153.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170686.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF398",
"gene_hgnc_id": 18373,
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Ser273Leu",
"transcript": "ENST00000475153.6",
"protein_id": "ENSP00000420418.1",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 642,
"cds_start": 818,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_170686.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475153.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF398",
"gene_hgnc_id": 18373,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Ser102Leu",
"transcript": "ENST00000426851.6",
"protein_id": "ENSP00000389972.2",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 471,
"cds_start": 305,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426851.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF398",
"gene_hgnc_id": 18373,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Ser223Leu",
"transcript": "ENST00000957024.1",
"protein_id": "ENSP00000627083.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 592,
"cds_start": 668,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957024.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF398",
"gene_hgnc_id": 18373,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Ser102Leu",
"transcript": "NM_020781.4",
"protein_id": "NP_065832.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 471,
"cds_start": 305,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020781.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF398",
"gene_hgnc_id": 18373,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Ser102Leu",
"transcript": "ENST00000483892.5",
"protein_id": "ENSP00000418564.1",
"transcript_support_level": 5,
"aa_start": 102,
"aa_end": null,
"aa_length": 471,
"cds_start": 305,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000483892.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF398",
"gene_hgnc_id": 18373,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Ser102Leu",
"transcript": "ENST00000491174.1",
"protein_id": "ENSP00000419391.1",
"transcript_support_level": 2,
"aa_start": 102,
"aa_end": null,
"aa_length": 471,
"cds_start": 305,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491174.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF398",
"gene_hgnc_id": 18373,
"hgvs_c": "c.833C>T",
"hgvs_p": "p.Ser278Leu",
"transcript": "XM_011516439.3",
"protein_id": "XP_011514741.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 647,
"cds_start": 833,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516439.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF398",
"gene_hgnc_id": 18373,
"hgvs_c": "c.833C>T",
"hgvs_p": "p.Ser278Leu",
"transcript": "XM_047420661.1",
"protein_id": "XP_047276617.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 647,
"cds_start": 833,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420661.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF398",
"gene_hgnc_id": 18373,
"hgvs_c": "c.797C>T",
"hgvs_p": "p.Ser266Leu",
"transcript": "XM_011516440.3",
"protein_id": "XP_011514742.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 635,
"cds_start": 797,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516440.3"
}
],
"gene_symbol": "ZNF398",
"gene_hgnc_id": 18373,
"dbsnp": "rs765158679",
"frequency_reference_population": 0.00003779341,
"hom_count_reference_population": 0,
"allele_count_reference_population": 61,
"gnomad_exomes_af": 0.000036939,
"gnomad_genomes_af": 0.0000460012,
"gnomad_exomes_ac": 54,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03681570291519165,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.05,
"revel_prediction": "Benign",
"alphamissense_score": 0.1247,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.554,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_170686.3",
"gene_symbol": "ZNF398",
"hgnc_id": 18373,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Ser273Leu"
}
],
"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
}