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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: 4-667922-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=667922&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 667922,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000496514.6",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.2419T>C",
"hgvs_p": "p.Trp807Arg",
"transcript": "NM_000283.4",
"protein_id": "NP_000274.3",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 854,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2473,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": "ENST00000496514.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.2419T>C",
"hgvs_p": "p.Trp807Arg",
"transcript": "ENST00000496514.6",
"protein_id": "ENSP00000420295.1",
"transcript_support_level": 1,
"aa_start": 807,
"aa_end": null,
"aa_length": 854,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2473,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": "NM_000283.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.2419T>C",
"hgvs_p": "p.Trp807Arg",
"transcript": "ENST00000255622.10",
"protein_id": "ENSP00000255622.6",
"transcript_support_level": 1,
"aa_start": 807,
"aa_end": null,
"aa_length": 853,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2462,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.2419T>C",
"hgvs_p": "p.Trp807Arg",
"transcript": "NM_001440547.1",
"protein_id": "NP_001427476.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 868,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 2473,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.2419T>C",
"hgvs_p": "p.Trp807Arg",
"transcript": "NM_001145291.2",
"protein_id": "NP_001138763.2",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 853,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2473,
"cdna_end": null,
"cdna_length": 3291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1582T>C",
"hgvs_p": "p.Trp528Arg",
"transcript": "NM_001350154.3",
"protein_id": "NP_001337083.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 589,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1851,
"cdna_end": null,
"cdna_length": 2607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1582T>C",
"hgvs_p": "p.Trp528Arg",
"transcript": "NM_001145292.2",
"protein_id": "NP_001138764.2",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 575,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1851,
"cdna_end": null,
"cdna_length": 2672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1582T>C",
"hgvs_p": "p.Trp528Arg",
"transcript": "NM_001379246.1",
"protein_id": "NP_001366175.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 575,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 3131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1582T>C",
"hgvs_p": "p.Trp528Arg",
"transcript": "NM_001379247.1",
"protein_id": "NP_001366176.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 575,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1828,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1582T>C",
"hgvs_p": "p.Trp528Arg",
"transcript": "ENST00000429163.6",
"protein_id": "ENSP00000406334.2",
"transcript_support_level": 2,
"aa_start": 528,
"aa_end": null,
"aa_length": 575,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1264T>C",
"hgvs_p": "p.Trp422Arg",
"transcript": "NM_001350155.3",
"protein_id": "NP_001337084.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 483,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"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": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.259T>C",
"hgvs_p": "p.Trp87Arg",
"transcript": "ENST00000461490.1",
"protein_id": "ENSP00000417178.1",
"transcript_support_level": 3,
"aa_start": 87,
"aa_end": null,
"aa_length": 148,
"cds_start": 259,
"cds_end": null,
"cds_length": 447,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.2662T>C",
"hgvs_p": "p.Trp888Arg",
"transcript": "XM_047415772.1",
"protein_id": "XP_047271728.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 949,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 2716,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.2662T>C",
"hgvs_p": "p.Trp888Arg",
"transcript": "XM_047415773.1",
"protein_id": "XP_047271729.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 935,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2716,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1825T>C",
"hgvs_p": "p.Trp609Arg",
"transcript": "XM_047415775.1",
"protein_id": "XP_047271731.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 670,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2553,
"cdna_end": null,
"cdna_length": 3309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1825T>C",
"hgvs_p": "p.Trp609Arg",
"transcript": "XM_047415776.1",
"protein_id": "XP_047271732.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 670,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.1825T>C",
"hgvs_p": "p.Trp609Arg",
"transcript": "XM_047415777.1",
"protein_id": "XP_047271733.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 670,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2094,
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.2352+1308T>C",
"hgvs_p": null,
"transcript": "NM_001440548.1",
"protein_id": "NP_001427477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 784,
"cds_start": -4,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3143,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"hgvs_c": "c.432+1308T>C",
"hgvs_p": null,
"transcript": "ENST00000471824.6",
"protein_id": "ENSP00000417852.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PDE6B",
"gene_hgnc_id": 8786,
"dbsnp": "rs121918583",
"frequency_reference_population": 0.000006607464,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000660746,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9894211888313293,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.925,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9996,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.461,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1,PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PS1",
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000496514.6",
"gene_symbol": "PDE6B",
"hgnc_id": 8786,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2419T>C",
"hgvs_p": "p.Trp807Arg"
}
],
"clinvar_disease": "Retinal dystrophy,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "not provided|Retinal dystrophy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}