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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: 19-16893245-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=16893245&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 16893245,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015692.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.5521G>T",
"hgvs_p": "p.Ala1841Ser",
"transcript": "NM_015692.5",
"protein_id": "NP_056507.3",
"transcript_support_level": null,
"aa_start": 1841,
"aa_end": null,
"aa_length": 1885,
"cds_start": 5521,
"cds_end": null,
"cds_length": 5658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000443236.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015692.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.5521G>T",
"hgvs_p": "p.Ala1841Ser",
"transcript": "ENST00000443236.7",
"protein_id": "ENSP00000402505.3",
"transcript_support_level": 1,
"aa_start": 1841,
"aa_end": null,
"aa_length": 1885,
"cds_start": 5521,
"cds_end": null,
"cds_length": 5658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015692.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443236.7"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.5485G>T",
"hgvs_p": "p.Ala1829Ser",
"transcript": "ENST00000942844.1",
"protein_id": "ENSP00000612903.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1873,
"cds_start": 5485,
"cds_end": null,
"cds_length": 5622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942844.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.5626G>T",
"hgvs_p": "p.Ala1876Ser",
"transcript": "XM_011527917.2",
"protein_id": "XP_011526219.1",
"transcript_support_level": null,
"aa_start": 1876,
"aa_end": null,
"aa_length": 1920,
"cds_start": 5626,
"cds_end": null,
"cds_length": 5763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527917.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.4999G>T",
"hgvs_p": "p.Ala1667Ser",
"transcript": "XM_047438613.1",
"protein_id": "XP_047294569.1",
"transcript_support_level": null,
"aa_start": 1667,
"aa_end": null,
"aa_length": 1711,
"cds_start": 4999,
"cds_end": null,
"cds_length": 5136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438613.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.4999G>T",
"hgvs_p": "p.Ala1667Ser",
"transcript": "XM_047438614.1",
"protein_id": "XP_047294570.1",
"transcript_support_level": null,
"aa_start": 1667,
"aa_end": null,
"aa_length": 1711,
"cds_start": 4999,
"cds_end": null,
"cds_length": 5136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438614.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.3433G>T",
"hgvs_p": "p.Ala1145Ser",
"transcript": "XM_011527925.1",
"protein_id": "XP_011526227.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3433,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527925.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.*1171G>T",
"hgvs_p": null,
"transcript": "ENST00000651564.2",
"protein_id": "ENSP00000498697.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1815,
"cds_start": null,
"cds_end": null,
"cds_length": 5448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651564.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.*918G>T",
"hgvs_p": null,
"transcript": "XM_011527918.2",
"protein_id": "XP_011526220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1887,
"cds_start": null,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527918.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.*1171G>T",
"hgvs_p": null,
"transcript": "XM_011527919.2",
"protein_id": "XP_011526221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1862,
"cds_start": null,
"cds_end": null,
"cds_length": 5589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527919.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.*2357G>T",
"hgvs_p": null,
"transcript": "XM_011527920.3",
"protein_id": "XP_011526222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1858,
"cds_start": null,
"cds_end": null,
"cds_length": 5577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527920.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.*1171G>T",
"hgvs_p": null,
"transcript": "XM_047438612.1",
"protein_id": "XP_047294568.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1850,
"cds_start": null,
"cds_end": null,
"cds_length": 5553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438612.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.*1238G>T",
"hgvs_p": null,
"transcript": "XM_011527921.4",
"protein_id": "XP_011526223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1815,
"cds_start": null,
"cds_end": null,
"cds_length": 5448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527921.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.*140G>T",
"hgvs_p": null,
"transcript": "XM_011527922.2",
"protein_id": "XP_011526224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1815,
"cds_start": null,
"cds_end": null,
"cds_length": 5448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527922.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.*2412G>T",
"hgvs_p": null,
"transcript": "XM_011527924.3",
"protein_id": "XP_011526226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1815,
"cds_start": null,
"cds_end": null,
"cds_length": 5448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527924.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "n.1457G>T",
"hgvs_p": null,
"transcript": "ENST00000594249.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000594249.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "n.1830G>T",
"hgvs_p": null,
"transcript": "ENST00000596224.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000596224.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "n.3195G>T",
"hgvs_p": null,
"transcript": "ENST00000600235.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000600235.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "n.1431G>T",
"hgvs_p": null,
"transcript": "NR_147452.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147452.2"
}
],
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"dbsnp": "rs2051829929",
"frequency_reference_population": 7.028869e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.02887e-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": 0.15034395456314087,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.146,
"revel_prediction": "Benign",
"alphamissense_score": 0.08,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.757,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015692.5",
"gene_symbol": "CPAMD8",
"hgnc_id": 23228,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5521G>T",
"hgvs_p": "p.Ala1841Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}