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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: 19-16896219-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=16896219&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 16896219,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015692.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.5383G>A",
"hgvs_p": "p.Val1795Met",
"transcript": "NM_015692.5",
"protein_id": "NP_056507.3",
"transcript_support_level": null,
"aa_start": 1795,
"aa_end": null,
"aa_length": 1885,
"cds_start": 5383,
"cds_end": null,
"cds_length": 5658,
"cdna_start": 5551,
"cdna_end": null,
"cdna_length": 5983,
"mane_select": "ENST00000443236.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015692.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.5383G>A",
"hgvs_p": "p.Val1795Met",
"transcript": "ENST00000443236.7",
"protein_id": "ENSP00000402505.3",
"transcript_support_level": 1,
"aa_start": 1795,
"aa_end": null,
"aa_length": 1885,
"cds_start": 5383,
"cds_end": null,
"cds_length": 5658,
"cdna_start": 5551,
"cdna_end": null,
"cdna_length": 5983,
"mane_select": "NM_015692.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443236.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.5347G>A",
"hgvs_p": "p.Val1783Met",
"transcript": "ENST00000942844.1",
"protein_id": "ENSP00000612903.1",
"transcript_support_level": null,
"aa_start": 1783,
"aa_end": null,
"aa_length": 1873,
"cds_start": 5347,
"cds_end": null,
"cds_length": 5622,
"cdna_start": 5515,
"cdna_end": null,
"cdna_length": 5947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942844.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.5383G>A",
"hgvs_p": "p.Val1795Met",
"transcript": "ENST00000651564.2",
"protein_id": "ENSP00000498697.2",
"transcript_support_level": null,
"aa_start": 1795,
"aa_end": null,
"aa_length": 1815,
"cds_start": 5383,
"cds_end": null,
"cds_length": 5448,
"cdna_start": 5383,
"cdna_end": null,
"cdna_length": 6913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651564.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.5488G>A",
"hgvs_p": "p.Val1830Met",
"transcript": "XM_011527917.2",
"protein_id": "XP_011526219.1",
"transcript_support_level": null,
"aa_start": 1830,
"aa_end": null,
"aa_length": 1920,
"cds_start": 5488,
"cds_end": null,
"cds_length": 5763,
"cdna_start": 5515,
"cdna_end": null,
"cdna_length": 5947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527917.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.5524G>A",
"hgvs_p": "p.Val1842Met",
"transcript": "XM_011527918.2",
"protein_id": "XP_011526220.1",
"transcript_support_level": null,
"aa_start": 1842,
"aa_end": null,
"aa_length": 1887,
"cds_start": 5524,
"cds_end": null,
"cds_length": 5664,
"cdna_start": 5551,
"cdna_end": null,
"cdna_length": 6903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527918.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.5524G>A",
"hgvs_p": "p.Val1842Met",
"transcript": "XM_011527919.2",
"protein_id": "XP_011526221.1",
"transcript_support_level": null,
"aa_start": 1842,
"aa_end": null,
"aa_length": 1862,
"cds_start": 5524,
"cds_end": null,
"cds_length": 5589,
"cdna_start": 5551,
"cdna_end": null,
"cdna_length": 7081,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527919.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.5524G>A",
"hgvs_p": "p.Val1842Met",
"transcript": "XM_011527920.3",
"protein_id": "XP_011526222.1",
"transcript_support_level": null,
"aa_start": 1842,
"aa_end": null,
"aa_length": 1858,
"cds_start": 5524,
"cds_end": null,
"cds_length": 5577,
"cdna_start": 5551,
"cdna_end": null,
"cdna_length": 8255,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527920.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.5488G>A",
"hgvs_p": "p.Val1830Met",
"transcript": "XM_047438612.1",
"protein_id": "XP_047294568.1",
"transcript_support_level": null,
"aa_start": 1830,
"aa_end": null,
"aa_length": 1850,
"cds_start": 5488,
"cds_end": null,
"cds_length": 5553,
"cdna_start": 5515,
"cdna_end": null,
"cdna_length": 7045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438612.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.4861G>A",
"hgvs_p": "p.Val1621Met",
"transcript": "XM_047438613.1",
"protein_id": "XP_047294569.1",
"transcript_support_level": null,
"aa_start": 1621,
"aa_end": null,
"aa_length": 1711,
"cds_start": 4861,
"cds_end": null,
"cds_length": 5136,
"cdna_start": 5523,
"cdna_end": null,
"cdna_length": 5955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438613.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.4861G>A",
"hgvs_p": "p.Val1621Met",
"transcript": "XM_047438614.1",
"protein_id": "XP_047294570.1",
"transcript_support_level": null,
"aa_start": 1621,
"aa_end": null,
"aa_length": 1711,
"cds_start": 4861,
"cds_end": null,
"cds_length": 5136,
"cdna_start": 5410,
"cdna_end": null,
"cdna_length": 5842,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438614.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.3295G>A",
"hgvs_p": "p.Val1099Met",
"transcript": "XM_011527925.1",
"protein_id": "XP_011526227.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3295,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 3401,
"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": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.*65G>A",
"hgvs_p": null,
"transcript": "XM_017026594.2",
"protein_id": "XP_016882083.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1817,
"cds_start": null,
"cds_end": null,
"cds_length": 5454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026594.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.*2G>A",
"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": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.*2G>A",
"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": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.*2G>A",
"hgvs_p": null,
"transcript": "XM_011527923.2",
"protein_id": "XP_011526225.1",
"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": 5607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527923.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "c.*2G>A",
"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": 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.541G>A",
"hgvs_p": null,
"transcript": "ENST00000593739.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 564,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000593739.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "n.221G>A",
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "n.594G>A",
"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": 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.402G>A",
"hgvs_p": null,
"transcript": "ENST00000596572.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000596572.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAMD8",
"gene_hgnc_id": 23228,
"hgvs_c": "n.431G>A",
"hgvs_p": null,
"transcript": "ENST00000597335.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000597335.5"
},
{
"aa_ref": null,
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{
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{
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],
"gene_symbol": "CPAMD8",
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"dbsnp": "rs1432653139",
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05248391628265381,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.016,
"revel_prediction": "Benign",
"alphamissense_score": 0.0891,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.269,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_015692.5",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}