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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: 4-663143-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=663143&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 663143,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000283.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Glu626Lys",
"transcript": "NM_000283.4",
"protein_id": "NP_000274.3",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 854,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": "ENST00000496514.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Glu626Lys",
"transcript": "ENST00000496514.6",
"protein_id": "ENSP00000420295.1",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 854,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": "NM_000283.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Glu626Lys",
"transcript": "ENST00000255622.10",
"protein_id": "ENSP00000255622.6",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 853,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Glu626Lys",
"transcript": "NM_001440547.1",
"protein_id": "NP_001427476.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 868,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Glu626Lys",
"transcript": "NM_001145291.2",
"protein_id": "NP_001138763.2",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 853,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 3291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Glu626Lys",
"transcript": "NM_001440548.1",
"protein_id": "NP_001427477.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 784,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"transcript": "NM_001350154.3",
"protein_id": "NP_001337083.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 589,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 2607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"transcript": "NM_001145292.2",
"protein_id": "NP_001138764.2",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 575,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 2672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"transcript": "NM_001379246.1",
"protein_id": "NP_001366175.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 575,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 3131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"transcript": "NM_001379247.1",
"protein_id": "NP_001366176.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 575,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"transcript": "ENST00000429163.6",
"protein_id": "ENSP00000406334.2",
"transcript_support_level": 2,
"aa_start": 347,
"aa_end": null,
"aa_length": 575,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Glu241Lys",
"transcript": "NM_001350155.3",
"protein_id": "NP_001337084.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 483,
"cds_start": 721,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Glu626Lys",
"transcript": "XM_047415772.1",
"protein_id": "XP_047271728.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 949,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Glu626Lys",
"transcript": "XM_047415773.1",
"protein_id": "XP_047271729.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 935,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"transcript": "XM_047415775.1",
"protein_id": "XP_047271731.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 670,
"cds_start": 1039,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 3309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"transcript": "XM_047415776.1",
"protein_id": "XP_047271732.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 670,
"cds_start": 1039,
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"cds_length": 2013,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"transcript": "XM_047415777.1",
"protein_id": "XP_047271733.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 670,
"cds_start": 1039,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272927",
"gene_hgnc_id": 58704,
"hgvs_c": "n.236+59C>T",
"hgvs_p": null,
"transcript": "ENST00000609172.2",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1242,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272927",
"gene_hgnc_id": 58704,
"hgvs_c": "n.233+59C>T",
"hgvs_p": null,
"transcript": "ENST00000784562.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_length": 1034,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272927",
"gene_hgnc_id": 58704,
"hgvs_c": "n.303+59C>T",
"hgvs_p": null,
"transcript": "ENST00000784563.1",
"protein_id": null,
"transcript_support_level": null,
"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": 972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"dbsnp": "rs758052437",
"frequency_reference_population": 6.8475515e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84755e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.983947217464447,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.953,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9996,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.169,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000283.4",
"gene_symbol": "PDE6B",
"hgnc_id": 8786,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Glu626Lys"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000784562.1",
"gene_symbol": "ENSG00000272927",
"hgnc_id": 58704,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.233+59C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}