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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: 12-51240938-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51240938&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 51240938,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000412716.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"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": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Glu",
"transcript": "NM_014764.4",
"protein_id": "NP_055579.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 168,
"cds_start": 200,
"cds_end": null,
"cds_length": 507,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": "ENST00000412716.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"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": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Glu",
"transcript": "ENST00000412716.8",
"protein_id": "ENSP00000394699.2",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 168,
"cds_start": 200,
"cds_end": null,
"cds_length": 507,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": "NM_014764.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Glu",
"transcript": "NM_001136266.2",
"protein_id": "NP_001129738.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 207,
"cds_start": 200,
"cds_end": null,
"cds_length": 624,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Glu",
"transcript": "ENST00000549555.5",
"protein_id": "ENSP00000448051.1",
"transcript_support_level": 2,
"aa_start": 67,
"aa_end": null,
"aa_length": 207,
"cds_start": 200,
"cds_end": null,
"cds_length": 624,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Glu",
"transcript": "NM_001136269.2",
"protein_id": "NP_001129741.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 153,
"cds_start": 200,
"cds_end": null,
"cds_length": 462,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Glu",
"transcript": "ENST00000425012.6",
"protein_id": "ENSP00000408251.2",
"transcript_support_level": 2,
"aa_start": 67,
"aa_end": null,
"aa_length": 153,
"cds_start": 200,
"cds_end": null,
"cds_length": 462,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Glu",
"transcript": "ENST00000604900.5",
"protein_id": "ENSP00000474597.1",
"transcript_support_level": 3,
"aa_start": 67,
"aa_end": null,
"aa_length": 134,
"cds_start": 200,
"cds_end": null,
"cds_length": 405,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 1045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Gly7Glu",
"transcript": "ENST00000551313.1",
"protein_id": "ENSP00000447842.1",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 108,
"cds_start": 20,
"cds_end": null,
"cds_length": 327,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "n.172G>A",
"hgvs_p": null,
"transcript": "ENST00000436900.2",
"protein_id": "ENSP00000404968.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "n.267G>A",
"hgvs_p": null,
"transcript": "ENST00000549497.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "n.291G>A",
"hgvs_p": null,
"transcript": "ENST00000551534.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "n.162G>A",
"hgvs_p": null,
"transcript": "ENST00000551919.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "n.406G>A",
"hgvs_p": null,
"transcript": "ENST00000552173.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "n.2031G>A",
"hgvs_p": null,
"transcript": "ENST00000552459.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "c.191+9G>A",
"hgvs_p": null,
"transcript": "NM_001136264.2",
"protein_id": "NP_001129736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": -4,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "c.191+9G>A",
"hgvs_p": null,
"transcript": "ENST00000449723.7",
"protein_id": "ENSP00000412812.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": -4,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "c.133-29G>A",
"hgvs_p": null,
"transcript": "NM_001136267.2",
"protein_id": "NP_001129739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "c.133-29G>A",
"hgvs_p": null,
"transcript": "ENST00000549732.6",
"protein_id": "ENSP00000446554.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "c.132+477G>A",
"hgvs_p": null,
"transcript": "NM_001136268.2",
"protein_id": "NP_001129740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": -4,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "c.132+477G>A",
"hgvs_p": null,
"transcript": "ENST00000439799.6",
"protein_id": "ENSP00000398804.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": -4,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAZAP2",
"gene_hgnc_id": 2684,
"hgvs_c": "n.*82G>A",
"hgvs_p": null,
"transcript": "ENST00000549041.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DAZAP2",
"gene_hgnc_id": 2684,
"dbsnp": "rs769680487",
"frequency_reference_population": 0.000043094897,
"hom_count_reference_population": 0,
"allele_count_reference_population": 63,
"gnomad_exomes_af": 0.0000430949,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 63,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7382892370223999,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.244,
"revel_prediction": "Benign",
"alphamissense_score": 0.8791,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.64,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000412716.8",
"gene_symbol": "DAZAP2",
"hgnc_id": 2684,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Gly67Glu"
}
],
"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
}