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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: 1-153969038-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=153969038&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 153969038,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000368607.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "NM_001255978.2",
"protein_id": "NP_001242907.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 1749,
"mane_select": "ENST00000368607.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "ENST00000368607.8",
"protein_id": "ENSP00000357596.3",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 1749,
"mane_select": "NM_001255978.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "ENST00000271889.8",
"protein_id": "ENSP00000271889.4",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 1750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "ENST00000368603.5",
"protein_id": "ENSP00000357592.1",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Pro75Thr",
"transcript": "ENST00000368600.7",
"protein_id": "ENSP00000357589.3",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 375,
"cds_start": 223,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 1496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285779",
"gene_hgnc_id": null,
"hgvs_c": "n.193-5335G>T",
"hgvs_p": null,
"transcript": "ENST00000648921.1",
"protein_id": "ENSP00000498105.1",
"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": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "NM_001255979.2",
"protein_id": "NP_001242908.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "NM_130898.4",
"protein_id": "NP_570968.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Pro75Thr",
"transcript": "NM_001255980.2",
"protein_id": "NP_001242909.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 375,
"cds_start": 223,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Pro75Thr",
"transcript": "NM_001255981.2",
"protein_id": "NP_001242910.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 375,
"cds_start": 223,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Pro75Thr",
"transcript": "ENST00000449724.5",
"protein_id": "ENSP00000391847.1",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 227,
"cds_start": 223,
"cds_end": null,
"cds_length": 685,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "ENST00000368601.5",
"protein_id": "ENSP00000357590.1",
"transcript_support_level": 2,
"aa_start": 95,
"aa_end": null,
"aa_length": 217,
"cds_start": 283,
"cds_end": null,
"cds_length": 654,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "ENST00000431292.1",
"protein_id": "ENSP00000402308.1",
"transcript_support_level": 5,
"aa_start": 95,
"aa_end": null,
"aa_length": 181,
"cds_start": 283,
"cds_end": null,
"cds_length": 546,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "XM_024453343.2",
"protein_id": "XP_024309111.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "XM_024453344.2",
"protein_id": "XP_024309112.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 1762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "XM_024453346.2",
"protein_id": "XP_024309114.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 395,
"cds_start": 283,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 1618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Pro75Thr",
"transcript": "XM_006711172.3",
"protein_id": "XP_006711235.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 375,
"cds_start": 223,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 1709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Pro75Thr",
"transcript": "XM_017000372.2",
"protein_id": "XP_016855861.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 375,
"cds_start": 223,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Pro75Thr",
"transcript": "XM_047446827.1",
"protein_id": "XP_047302783.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 375,
"cds_start": 223,
"cds_end": null,
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"cdna_start": 625,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "n.467C>A",
"hgvs_p": null,
"transcript": "ENST00000461688.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "n.564C>A",
"hgvs_p": null,
"transcript": "ENST00000473340.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "n.339C>A",
"hgvs_p": null,
"transcript": "ENST00000479010.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREB3L4",
"gene_hgnc_id": 18854,
"hgvs_c": "n.277C>A",
"hgvs_p": null,
"transcript": "ENST00000492729.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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{
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{
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],
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.143,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.598,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 2,
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"verdict": "Uncertain_significance",
"transcript": "ENST00000648921.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}