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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: 19-16970892-T-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=16970892&ref=T&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 16970892,
"ref": "T",
"alt": "TG",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "ENST00000443236.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.2211dupC",
"hgvs_p": "p.Arg738fs",
"transcript": "NM_015692.5",
"protein_id": "NP_056507.3",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1885,
"cds_start": 2211,
"cds_end": null,
"cds_length": 5658,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 5983,
"mane_select": "ENST00000443236.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.2211dupC",
"hgvs_p": "p.Arg738fs",
"transcript": "ENST00000443236.7",
"protein_id": "ENSP00000402505.3",
"transcript_support_level": 1,
"aa_start": 737,
"aa_end": null,
"aa_length": 1885,
"cds_start": 2211,
"cds_end": null,
"cds_length": 5658,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 5983,
"mane_select": "NM_015692.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "n.*67dupC",
"hgvs_p": null,
"transcript": "ENST00000291440.4",
"protein_id": "ENSP00000291440.4",
"transcript_support_level": 1,
"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": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "n.*67dupC",
"hgvs_p": null,
"transcript": "ENST00000291440.4",
"protein_id": "ENSP00000291440.4",
"transcript_support_level": 1,
"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": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.2211dupC",
"hgvs_p": "p.Arg738fs",
"transcript": "ENST00000651564.2",
"protein_id": "ENSP00000498697.2",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1815,
"cds_start": 2211,
"cds_end": null,
"cds_length": 5448,
"cdna_start": 2211,
"cdna_end": null,
"cdna_length": 6913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.2316dupC",
"hgvs_p": "p.Arg773fs",
"transcript": "XM_011527917.2",
"protein_id": "XP_011526219.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1920,
"cds_start": 2316,
"cds_end": null,
"cds_length": 5763,
"cdna_start": 2343,
"cdna_end": null,
"cdna_length": 5947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.2352dupC",
"hgvs_p": "p.Arg785fs",
"transcript": "XM_011527918.2",
"protein_id": "XP_011526220.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1887,
"cds_start": 2352,
"cds_end": null,
"cds_length": 5664,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 6903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.2352dupC",
"hgvs_p": "p.Arg785fs",
"transcript": "XM_011527919.2",
"protein_id": "XP_011526221.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1862,
"cds_start": 2352,
"cds_end": null,
"cds_length": 5589,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 7081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.2352dupC",
"hgvs_p": "p.Arg785fs",
"transcript": "XM_011527920.3",
"protein_id": "XP_011526222.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1858,
"cds_start": 2352,
"cds_end": null,
"cds_length": 5577,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 8255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.2316dupC",
"hgvs_p": "p.Arg773fs",
"transcript": "XM_047438612.1",
"protein_id": "XP_047294568.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1850,
"cds_start": 2316,
"cds_end": null,
"cds_length": 5553,
"cdna_start": 2343,
"cdna_end": null,
"cdna_length": 7045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.2352dupC",
"hgvs_p": "p.Arg785fs",
"transcript": "XM_017026594.2",
"protein_id": "XP_016882083.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1817,
"cds_start": 2352,
"cds_end": null,
"cds_length": 5454,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 5589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.2352dupC",
"hgvs_p": "p.Arg785fs",
"transcript": "XM_011527921.4",
"protein_id": "XP_011526223.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1815,
"cds_start": 2352,
"cds_end": null,
"cds_length": 5448,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 7007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.2352dupC",
"hgvs_p": "p.Arg785fs",
"transcript": "XM_011527922.2",
"protein_id": "XP_011526224.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1815,
"cds_start": 2352,
"cds_end": null,
"cds_length": 5448,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 5909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.2352dupC",
"hgvs_p": "p.Arg785fs",
"transcript": "XM_011527923.2",
"protein_id": "XP_011526225.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1815,
"cds_start": 2352,
"cds_end": null,
"cds_length": 5448,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 5607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.2352dupC",
"hgvs_p": "p.Arg785fs",
"transcript": "XM_011527924.3",
"protein_id": "XP_011526226.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1815,
"cds_start": 2352,
"cds_end": null,
"cds_length": 5448,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 8181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.1689dupC",
"hgvs_p": "p.Arg564fs",
"transcript": "XM_047438613.1",
"protein_id": "XP_047294569.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 1711,
"cds_start": 1689,
"cds_end": null,
"cds_length": 5136,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 5955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.1689dupC",
"hgvs_p": "p.Arg564fs",
"transcript": "XM_047438614.1",
"protein_id": "XP_047294570.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 1711,
"cds_start": 1689,
"cds_end": null,
"cds_length": 5136,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 5842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.123dupC",
"hgvs_p": "p.Arg42fs",
"transcript": "XM_011527925.1",
"protein_id": "XP_011526227.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 1189,
"cds_start": 123,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 3833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "n.370dupC",
"hgvs_p": null,
"transcript": "ENST00000593420.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "n.233dupC",
"hgvs_p": null,
"transcript": "ENST00000602159.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "n.1747dupC",
"hgvs_p": null,
"transcript": "NR_165644.1",
"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": 2115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"dbsnp": "rs756064750",
"frequency_reference_population": 0.0001698953,
"hom_count_reference_population": 0,
"allele_count_reference_population": 274,
"gnomad_exomes_af": 0.0001739,
"gnomad_genomes_af": 0.000131449,
"gnomad_exomes_ac": 254,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.4,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000443236.7",
"gene_symbol": "CPAMD8",
"hgnc_id": 23228,
"effects": [
"frameshift_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2211dupC",
"hgvs_p": "p.Arg738fs"
}
],
"clinvar_disease": "Anterior segment dysgenesis 8,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Anterior segment dysgenesis 8|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}