← Back to variant description
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: 12-47236325-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=47236325&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 47236325,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000546455.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"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": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "NM_138371.3",
"protein_id": "NP_612380.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 432,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 2310,
"mane_select": "ENST00000546455.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"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": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "ENST00000546455.6",
"protein_id": "ENSP00000446688.1",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 432,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 2310,
"mane_select": "NM_138371.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "NM_001281429.2",
"protein_id": "NP_001268358.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 432,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "ENST00000432328.2",
"protein_id": "ENSP00000396040.1",
"transcript_support_level": 3,
"aa_start": 421,
"aa_end": null,
"aa_length": 432,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1525,
"cdna_end": null,
"cdna_length": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "XM_005269224.6",
"protein_id": "XP_005269281.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 432,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 2046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "XM_011538978.3",
"protein_id": "XP_011537280.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 432,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1879,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "XM_017020207.2",
"protein_id": "XP_016875696.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 432,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "XM_017020209.2",
"protein_id": "XP_016875698.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 432,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1768,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "XM_017020216.2",
"protein_id": "XP_016875705.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 432,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "XM_047429868.1",
"protein_id": "XP_047285824.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 432,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 2024,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "XM_047429869.1",
"protein_id": "XP_047285825.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 432,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 2248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "XM_047429870.1",
"protein_id": "XP_047285826.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 432,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 2101,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "XM_047429871.1",
"protein_id": "XP_047285827.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 432,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "XM_047429872.1",
"protein_id": "XP_047285828.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 432,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "XM_047429873.1",
"protein_id": "XP_047285829.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 432,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 3213,
"cdna_end": null,
"cdna_length": 3548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "XM_047429874.1",
"protein_id": "XP_047285830.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 432,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1884,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "XM_047429875.1",
"protein_id": "XP_047285831.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 432,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1827,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "PCED1B",
"gene_hgnc_id": 28255,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "XM_047429876.1",
"protein_id": "XP_047285832.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 432,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PCED1B",
"gene_hgnc_id": 28255,
"dbsnp": "rs374835427",
"frequency_reference_population": 0.0000013710688,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137107,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05973935127258301,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.1428,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.278,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000546455.6",
"gene_symbol": "PCED1B",
"hgnc_id": 28255,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}