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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: 19-16893128-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=16893128&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 16893128,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015692.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"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.5638A>G",
"hgvs_p": "p.Asn1880Asp",
"transcript": "NM_015692.5",
"protein_id": "NP_056507.3",
"transcript_support_level": null,
"aa_start": 1880,
"aa_end": null,
"aa_length": 1885,
"cds_start": 5638,
"cds_end": null,
"cds_length": 5658,
"cdna_start": 5806,
"cdna_end": null,
"cdna_length": 5983,
"mane_select": "ENST00000443236.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015692.5"
},
{
"aa_ref": "N",
"aa_alt": "D",
"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.5638A>G",
"hgvs_p": "p.Asn1880Asp",
"transcript": "ENST00000443236.7",
"protein_id": "ENSP00000402505.3",
"transcript_support_level": 1,
"aa_start": 1880,
"aa_end": null,
"aa_length": 1885,
"cds_start": 5638,
"cds_end": null,
"cds_length": 5658,
"cdna_start": 5806,
"cdna_end": null,
"cdna_length": 5983,
"mane_select": "NM_015692.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443236.7"
},
{
"aa_ref": "N",
"aa_alt": "D",
"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.5602A>G",
"hgvs_p": "p.Asn1868Asp",
"transcript": "ENST00000942844.1",
"protein_id": "ENSP00000612903.1",
"transcript_support_level": null,
"aa_start": 1868,
"aa_end": null,
"aa_length": 1873,
"cds_start": 5602,
"cds_end": null,
"cds_length": 5622,
"cdna_start": 5770,
"cdna_end": null,
"cdna_length": 5947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942844.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"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.5743A>G",
"hgvs_p": "p.Asn1915Asp",
"transcript": "XM_011527917.2",
"protein_id": "XP_011526219.1",
"transcript_support_level": null,
"aa_start": 1915,
"aa_end": null,
"aa_length": 1920,
"cds_start": 5743,
"cds_end": null,
"cds_length": 5763,
"cdna_start": 5770,
"cdna_end": null,
"cdna_length": 5947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527917.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"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.5116A>G",
"hgvs_p": "p.Asn1706Asp",
"transcript": "XM_047438613.1",
"protein_id": "XP_047294569.1",
"transcript_support_level": null,
"aa_start": 1706,
"aa_end": null,
"aa_length": 1711,
"cds_start": 5116,
"cds_end": null,
"cds_length": 5136,
"cdna_start": 5778,
"cdna_end": null,
"cdna_length": 5955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438613.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"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.5116A>G",
"hgvs_p": "p.Asn1706Asp",
"transcript": "XM_047438614.1",
"protein_id": "XP_047294570.1",
"transcript_support_level": null,
"aa_start": 1706,
"aa_end": null,
"aa_length": 1711,
"cds_start": 5116,
"cds_end": null,
"cds_length": 5136,
"cdna_start": 5665,
"cdna_end": null,
"cdna_length": 5842,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438614.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"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.3550A>G",
"hgvs_p": "p.Asn1184Asp",
"transcript": "XM_011527925.1",
"protein_id": "XP_011526227.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3550,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 3656,
"cdna_end": null,
"cdna_length": 3833,
"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.*1288A>G",
"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": 6913,
"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.*1035A>G",
"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": 6903,
"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.*1288A>G",
"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": 7081,
"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.*2474A>G",
"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": 8255,
"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.*1288A>G",
"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": 7045,
"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.*1355A>G",
"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": 7007,
"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.*257A>G",
"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": 5909,
"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.*2529A>G",
"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": 8181,
"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.1574A>G",
"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": 1593,
"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.1947A>G",
"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": 2117,
"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.3312A>G",
"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": 3486,
"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.1548A>G",
"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": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147452.2"
}
],
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"dbsnp": "rs182109236",
"frequency_reference_population": 0.0019902955,
"hom_count_reference_population": 12,
"allele_count_reference_population": 2959,
"gnomad_exomes_af": 0.00207952,
"gnomad_genomes_af": 0.00120835,
"gnomad_exomes_ac": 2775,
"gnomad_genomes_ac": 184,
"gnomad_exomes_homalt": 11,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0039386749267578125,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.058,
"revel_prediction": "Benign",
"alphamissense_score": 0.2396,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.144,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015692.5",
"gene_symbol": "CPAMD8",
"hgnc_id": 23228,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5638A>G",
"hgvs_p": "p.Asn1880Asp"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}