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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: 4-10443604-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=10443604&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 10443604,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000326756.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.2725C>T",
"hgvs_p": "p.Arg909Cys",
"transcript": "NM_053042.3",
"protein_id": "NP_444270.2",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2725,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 3230,
"cdna_end": null,
"cdna_length": 6954,
"mane_select": "ENST00000326756.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.2725C>T",
"hgvs_p": "p.Arg909Cys",
"transcript": "ENST00000326756.4",
"protein_id": "ENSP00000317614.3",
"transcript_support_level": 3,
"aa_start": 909,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2725,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 3230,
"cdna_end": null,
"cdna_length": 6954,
"mane_select": "NM_053042.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.2725C>T",
"hgvs_p": "p.Arg909Cys",
"transcript": "NM_001375816.1",
"protein_id": "NP_001362745.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2725,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 3441,
"cdna_end": null,
"cdna_length": 7165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.2725C>T",
"hgvs_p": "p.Arg909Cys",
"transcript": "NM_001375817.1",
"protein_id": "NP_001362746.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2725,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 3046,
"cdna_end": null,
"cdna_length": 6770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.2725C>T",
"hgvs_p": "p.Arg909Cys",
"transcript": "XM_017008786.2",
"protein_id": "XP_016864275.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2725,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 3274,
"cdna_end": null,
"cdna_length": 6998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.2725C>T",
"hgvs_p": "p.Arg909Cys",
"transcript": "XM_024454264.2",
"protein_id": "XP_024310032.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2725,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 6267,
"cdna_end": null,
"cdna_length": 9991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"hgvs_c": "c.2725C>T",
"hgvs_p": "p.Arg909Cys",
"transcript": "XM_047416333.1",
"protein_id": "XP_047272289.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2725,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 3249,
"cdna_end": null,
"cdna_length": 6973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF518B",
"gene_hgnc_id": 29365,
"dbsnp": "rs561875461",
"frequency_reference_population": 0.000079298996,
"hom_count_reference_population": 0,
"allele_count_reference_population": 128,
"gnomad_exomes_af": 0.000073879,
"gnomad_genomes_af": 0.000131325,
"gnomad_exomes_ac": 108,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03036901354789734,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.161,
"revel_prediction": "Benign",
"alphamissense_score": 0.0971,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.016,
"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": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000326756.4",
"gene_symbol": "ZNF518B",
"hgnc_id": 29365,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2725C>T",
"hgvs_p": "p.Arg909Cys"
}
],
"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
}