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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: 6-116645734-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=116645734&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZUP1",
"hgnc_id": 21224,
"hgvs_c": "c.1669C>A",
"hgvs_p": "p.Leu557Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_145062.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.201,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4449213445186615,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 578,
"aa_ref": "L",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2167,
"cdna_start": 1885,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1669,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_145062.3",
"gene_hgnc_id": 21224,
"gene_symbol": "ZUP1",
"hgvs_c": "c.1669C>A",
"hgvs_p": "p.Leu557Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368576.8",
"protein_coding": true,
"protein_id": "NP_659499.2",
"strand": false,
"transcript": "NM_145062.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 578,
"aa_ref": "L",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2167,
"cdna_start": 1885,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1669,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000368576.8",
"gene_hgnc_id": 21224,
"gene_symbol": "ZUP1",
"hgvs_c": "c.1669C>A",
"hgvs_p": "p.Leu557Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145062.3",
"protein_coding": true,
"protein_id": "ENSP00000357565.3",
"strand": false,
"transcript": "ENST00000368576.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 578,
"aa_ref": "L",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 2306,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1669,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001361189.2",
"gene_hgnc_id": 21224,
"gene_symbol": "ZUP1",
"hgvs_c": "c.1669C>A",
"hgvs_p": "p.Leu557Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001348118.1",
"strand": false,
"transcript": "NM_001361189.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 578,
"aa_ref": "L",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2627,
"cdna_start": 2345,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1669,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000905912.1",
"gene_hgnc_id": 21224,
"gene_symbol": "ZUP1",
"hgvs_c": "c.1669C>A",
"hgvs_p": "p.Leu557Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575971.1",
"strand": false,
"transcript": "ENST00000905912.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 578,
"aa_ref": "L",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2021,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1669,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000935654.1",
"gene_hgnc_id": 21224,
"gene_symbol": "ZUP1",
"hgvs_c": "c.1669C>A",
"hgvs_p": "p.Leu557Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605713.1",
"strand": false,
"transcript": "ENST00000935654.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 578,
"aa_ref": "L",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2347,
"cdna_start": 2070,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1669,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000935655.1",
"gene_hgnc_id": 21224,
"gene_symbol": "ZUP1",
"hgvs_c": "c.1669C>A",
"hgvs_p": "p.Leu557Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605714.1",
"strand": false,
"transcript": "ENST00000935655.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 578,
"aa_ref": "L",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 1820,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1669,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000935656.1",
"gene_hgnc_id": 21224,
"gene_symbol": "ZUP1",
"hgvs_c": "c.1669C>A",
"hgvs_p": "p.Leu557Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605715.1",
"strand": false,
"transcript": "ENST00000935656.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 541,
"aa_ref": "L",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2096,
"cdna_start": 1813,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1558,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905911.1",
"gene_hgnc_id": 21224,
"gene_symbol": "ZUP1",
"hgvs_c": "c.1558C>A",
"hgvs_p": "p.Leu520Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575970.1",
"strand": false,
"transcript": "ENST00000905911.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 541,
"aa_ref": "L",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2504,
"cdna_start": 2224,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1558,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000945047.1",
"gene_hgnc_id": 21224,
"gene_symbol": "ZUP1",
"hgvs_c": "c.1558C>A",
"hgvs_p": "p.Leu520Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615106.1",
"strand": false,
"transcript": "ENST00000945047.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 472,
"aa_ref": "L",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 1573,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1351,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000935657.1",
"gene_hgnc_id": 21224,
"gene_symbol": "ZUP1",
"hgvs_c": "c.1351C>A",
"hgvs_p": "p.Leu451Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605716.1",
"strand": false,
"transcript": "ENST00000935657.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1872,
"cdna_start": 1590,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001361190.2",
"gene_hgnc_id": 21224,
"gene_symbol": "ZUP1",
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Leu389Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001348119.1",
"strand": false,
"transcript": "NM_001361190.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 382,
"aa_ref": "L",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1593,
"cdna_start": 1311,
"cds_end": null,
"cds_length": 1149,
"cds_start": 1081,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001361191.2",
"gene_hgnc_id": 21224,
"gene_symbol": "ZUP1",
"hgvs_c": "c.1081C>A",
"hgvs_p": "p.Leu361Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001348120.1",
"strand": false,
"transcript": "NM_001361191.2",
"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": 807,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000485498.1",
"gene_hgnc_id": 21224,
"gene_symbol": "ZUP1",
"hgvs_c": "n.525C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000485498.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2070,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NR_154586.2",
"gene_hgnc_id": 21224,
"gene_symbol": "ZUP1",
"hgvs_c": "n.1788C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_154586.2",
"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": 2001,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NR_154587.2",
"gene_hgnc_id": 21224,
"gene_symbol": "ZUP1",
"hgvs_c": "n.1719C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_154587.2",
"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": 2162,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NR_154588.2",
"gene_hgnc_id": 21224,
"gene_symbol": "ZUP1",
"hgvs_c": "n.1880C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_154588.2",
"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": 2299,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NR_154589.2",
"gene_hgnc_id": 21224,
"gene_symbol": "ZUP1",
"hgvs_c": "n.2017C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_154589.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs767747432",
"effect": "missense_variant",
"frequency_reference_population": 6.850188e-7,
"gene_hgnc_id": 21224,
"gene_symbol": "ZUP1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.85019e-7,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 3.928,
"pos": 116645734,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.081,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_145062.3"
}
]
}