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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: 19-43847233-AA-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43847233&ref=AA&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF283",
"hgnc_id": 13077,
"hgvs_c": "c.632_633delAAinsCT",
"hgvs_p": "p.Glu211Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_181845.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 679,
"aa_ref": "E",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5684,
"cdna_start": 900,
"cds_end": null,
"cds_length": 2040,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_181845.2",
"gene_hgnc_id": 13077,
"gene_symbol": "ZNF283",
"hgvs_c": "c.632_633delAAinsCT",
"hgvs_p": "p.Glu211Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000618787.5",
"protein_coding": true,
"protein_id": "NP_862828.1",
"strand": true,
"transcript": "NM_181845.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 679,
"aa_ref": "E",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5684,
"cdna_start": 900,
"cds_end": null,
"cds_length": 2040,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000618787.5",
"gene_hgnc_id": 13077,
"gene_symbol": "ZNF283",
"hgvs_c": "c.632_633delAAinsCT",
"hgvs_p": "p.Glu211Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_181845.2",
"protein_coding": true,
"protein_id": "ENSP00000484852.1",
"strand": true,
"transcript": "ENST00000618787.5",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 679,
"aa_ref": "E",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 632,
"cds_end": null,
"cds_length": 2040,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000324461.9",
"gene_hgnc_id": 13077,
"gene_symbol": "ZNF283",
"hgvs_c": "c.632_633delAAinsCT",
"hgvs_p": "p.Glu211Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000327314.7",
"strand": true,
"transcript": "ENST00000324461.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 643,
"aa_ref": "E",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": 886,
"cds_end": null,
"cds_length": 1932,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000650832.1",
"gene_hgnc_id": 13077,
"gene_symbol": "ZNF283",
"hgvs_c": "c.524_525delAAinsCT",
"hgvs_p": "p.Glu175Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498705.1",
"strand": true,
"transcript": "ENST00000650832.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 540,
"aa_ref": "E",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5600,
"cdna_start": 816,
"cds_end": null,
"cds_length": 1623,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001297752.2",
"gene_hgnc_id": 13077,
"gene_symbol": "ZNF283",
"hgvs_c": "c.215_216delAAinsCT",
"hgvs_p": "p.Glu72Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284681.1",
"strand": true,
"transcript": "NM_001297752.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 654,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5768,
"cdna_start": 984,
"cds_end": null,
"cds_length": 1965,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005258784.4",
"gene_hgnc_id": 13077,
"gene_symbol": "ZNF283",
"hgvs_c": "c.557_558delAAinsCT",
"hgvs_p": "p.Glu186Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258841.1",
"strand": true,
"transcript": "XM_005258784.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 654,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5562,
"cdna_start": 778,
"cds_end": null,
"cds_length": 1965,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005258785.4",
"gene_hgnc_id": 13077,
"gene_symbol": "ZNF283",
"hgvs_c": "c.557_558delAAinsCT",
"hgvs_p": "p.Glu186Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258842.1",
"strand": true,
"transcript": "XM_005258785.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 654,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5727,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1965,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005258786.4",
"gene_hgnc_id": 13077,
"gene_symbol": "ZNF283",
"hgvs_c": "c.557_558delAAinsCT",
"hgvs_p": "p.Glu186Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258843.1",
"strand": true,
"transcript": "XM_005258786.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 654,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5845,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1965,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017026633.2",
"gene_hgnc_id": 13077,
"gene_symbol": "ZNF283",
"hgvs_c": "c.557_558delAAinsCT",
"hgvs_p": "p.Glu186Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882122.1",
"strand": true,
"transcript": "XM_017026633.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 654,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5680,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1965,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017026634.2",
"gene_hgnc_id": 13077,
"gene_symbol": "ZNF283",
"hgvs_c": "c.557_558delAAinsCT",
"hgvs_p": "p.Glu186Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882123.1",
"strand": true,
"transcript": "XM_017026634.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 654,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5527,
"cdna_start": 743,
"cds_end": null,
"cds_length": 1965,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024451460.2",
"gene_hgnc_id": 13077,
"gene_symbol": "ZNF283",
"hgvs_c": "c.557_558delAAinsCT",
"hgvs_p": "p.Glu186Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307228.1",
"strand": true,
"transcript": "XM_024451460.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 654,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5886,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1965,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438638.1",
"gene_hgnc_id": 13077,
"gene_symbol": "ZNF283",
"hgvs_c": "c.557_558delAAinsCT",
"hgvs_p": "p.Glu186Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294594.1",
"strand": true,
"transcript": "XM_047438638.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 654,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5512,
"cdna_start": 728,
"cds_end": null,
"cds_length": 1965,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438639.1",
"gene_hgnc_id": 13077,
"gene_symbol": "ZNF283",
"hgvs_c": "c.557_558delAAinsCT",
"hgvs_p": "p.Glu186Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294595.1",
"strand": true,
"transcript": "XM_047438639.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 612,
"aa_ref": "E",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5663,
"cdna_start": 879,
"cds_end": null,
"cds_length": 1839,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017026635.2",
"gene_hgnc_id": 13077,
"gene_symbol": "ZNF283",
"hgvs_c": "c.431_432delAAinsCT",
"hgvs_p": "p.Glu144Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882124.1",
"strand": true,
"transcript": "XM_017026635.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 573,
"aa_ref": "E",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10449,
"cdna_start": 5665,
"cds_end": null,
"cds_length": 1722,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017026636.3",
"gene_hgnc_id": 13077,
"gene_symbol": "ZNF283",
"hgvs_c": "c.314_315delAAinsCT",
"hgvs_p": "p.Glu105Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882125.1",
"strand": true,
"transcript": "XM_017026636.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 54,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2428,
"cdna_start": null,
"cds_end": null,
"cds_length": 165,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000588797.6",
"gene_hgnc_id": 13077,
"gene_symbol": "ZNF283",
"hgvs_c": "c.*232_*233delAAinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468708.2",
"strand": true,
"transcript": "ENST00000588797.6",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 13077,
"gene_symbol": "ZNF283",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": "Benign",
"phylop100way_score": 1.425,
"pos": 43847233,
"ref": "AA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_181845.2"
}
]
}