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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: 19-43837153-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43837153&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 43837153,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_181845.2",
"consequences": [
{
"aa_ref": "E",
"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": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "c.311A>T",
"hgvs_p": "p.Glu104Val",
"transcript": "NM_181845.2",
"protein_id": "NP_862828.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 679,
"cds_start": 311,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000618787.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181845.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"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": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "c.311A>T",
"hgvs_p": "p.Glu104Val",
"transcript": "ENST00000618787.5",
"protein_id": "ENSP00000484852.1",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 679,
"cds_start": 311,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181845.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618787.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "c.311A>T",
"hgvs_p": "p.Glu104Val",
"transcript": "ENST00000324461.9",
"protein_id": "ENSP00000327314.7",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 679,
"cds_start": 311,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324461.9"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "c.203A>T",
"hgvs_p": "p.Glu68Val",
"transcript": "ENST00000593164.6",
"protein_id": "ENSP00000467328.2",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 83,
"cds_start": 203,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593164.6"
},
{
"aa_ref": "E",
"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": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "c.203A>T",
"hgvs_p": "p.Glu68Val",
"transcript": "ENST00000650832.1",
"protein_id": "ENSP00000498705.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 643,
"cds_start": 203,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650832.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "c.110A>T",
"hgvs_p": "p.Glu37Val",
"transcript": "ENST00000588967.1",
"protein_id": "ENSP00000465942.1",
"transcript_support_level": 3,
"aa_start": 37,
"aa_end": null,
"aa_length": 44,
"cds_start": 110,
"cds_end": null,
"cds_length": 136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588967.1"
},
{
"aa_ref": "E",
"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": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "c.236A>T",
"hgvs_p": "p.Glu79Val",
"transcript": "XM_005258784.4",
"protein_id": "XP_005258841.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 654,
"cds_start": 236,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258784.4"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "c.236A>T",
"hgvs_p": "p.Glu79Val",
"transcript": "XM_005258785.4",
"protein_id": "XP_005258842.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 654,
"cds_start": 236,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258785.4"
},
{
"aa_ref": "E",
"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": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "c.236A>T",
"hgvs_p": "p.Glu79Val",
"transcript": "XM_005258786.4",
"protein_id": "XP_005258843.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 654,
"cds_start": 236,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258786.4"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "c.236A>T",
"hgvs_p": "p.Glu79Val",
"transcript": "XM_017026633.2",
"protein_id": "XP_016882122.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 654,
"cds_start": 236,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026633.2"
},
{
"aa_ref": "E",
"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": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "c.236A>T",
"hgvs_p": "p.Glu79Val",
"transcript": "XM_017026634.2",
"protein_id": "XP_016882123.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 654,
"cds_start": 236,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026634.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "c.236A>T",
"hgvs_p": "p.Glu79Val",
"transcript": "XM_024451460.2",
"protein_id": "XP_024307228.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 654,
"cds_start": 236,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451460.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "c.236A>T",
"hgvs_p": "p.Glu79Val",
"transcript": "XM_047438638.1",
"protein_id": "XP_047294594.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 654,
"cds_start": 236,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438638.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "c.236A>T",
"hgvs_p": "p.Glu79Val",
"transcript": "XM_047438639.1",
"protein_id": "XP_047294595.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 654,
"cds_start": 236,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438639.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "c.110A>T",
"hgvs_p": "p.Glu37Val",
"transcript": "XM_017026635.2",
"protein_id": "XP_016882124.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 612,
"cds_start": 110,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026635.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "c.-81+1561A>T",
"hgvs_p": null,
"transcript": "NM_001297752.2",
"protein_id": "NP_001284681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": null,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297752.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "c.102+1561A>T",
"hgvs_p": null,
"transcript": "ENST00000588797.6",
"protein_id": "ENSP00000468708.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 54,
"cds_start": null,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588797.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "n.548A>T",
"hgvs_p": null,
"transcript": "ENST00000586976.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000586976.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "n.333+21A>T",
"hgvs_p": null,
"transcript": "ENST00000590950.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000590950.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF283",
"gene_hgnc_id": 13077,
"hgvs_c": "n.440+21A>T",
"hgvs_p": null,
"transcript": "ENST00000593268.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000593268.5"
}
],
"gene_symbol": "ZNF283",
"gene_hgnc_id": 13077,
"dbsnp": "rs201943823",
"frequency_reference_population": 0.0000047943563,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000479436,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.751374363899231,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.265,
"revel_prediction": "Benign",
"alphamissense_score": 0.9361,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.117,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.11,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_181845.2",
"gene_symbol": "ZNF283",
"hgnc_id": 13077,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.311A>T",
"hgvs_p": "p.Glu104Val"
}
],
"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
}