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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: 11-88334960-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=88334960&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 88334960,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000227266.10",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.295T>C",
"hgvs_p": "p.Tyr99His",
"transcript": "NM_001814.6",
"protein_id": "NP_001805.4",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 463,
"cds_start": 295,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": "ENST00000227266.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.295T>C",
"hgvs_p": "p.Tyr99His",
"transcript": "ENST00000227266.10",
"protein_id": "ENSP00000227266.4",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 463,
"cds_start": 295,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": "NM_001814.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.295T>C",
"hgvs_p": "p.Tyr99His",
"transcript": "ENST00000529974.2",
"protein_id": "ENSP00000433539.1",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 141,
"cds_start": 295,
"cds_end": null,
"cds_length": 426,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.295T>C",
"hgvs_p": "p.Tyr99His",
"transcript": "ENST00000524463.6",
"protein_id": "ENSP00000432541.1",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 137,
"cds_start": 295,
"cds_end": null,
"cds_length": 414,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 6144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.295T>C",
"hgvs_p": "p.Tyr99His",
"transcript": "ENST00000678464.1",
"protein_id": "ENSP00000503046.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 452,
"cds_start": 295,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.295T>C",
"hgvs_p": "p.Tyr99His",
"transcript": "ENST00000678506.1",
"protein_id": "ENSP00000503580.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 450,
"cds_start": 295,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.295T>C",
"hgvs_p": "p.Tyr99His",
"transcript": "ENST00000678915.1",
"protein_id": "ENSP00000504805.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 419,
"cds_start": 295,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.295T>C",
"hgvs_p": "p.Tyr99His",
"transcript": "ENST00000527018.6",
"protein_id": "ENSP00000432556.2",
"transcript_support_level": 5,
"aa_start": 99,
"aa_end": null,
"aa_length": 325,
"cds_start": 295,
"cds_end": null,
"cds_length": 978,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.295T>C",
"hgvs_p": "p.Tyr99His",
"transcript": "ENST00000393301.5",
"protein_id": "ENSP00000503502.1",
"transcript_support_level": 2,
"aa_start": 99,
"aa_end": null,
"aa_length": 165,
"cds_start": 295,
"cds_end": null,
"cds_length": 498,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.295T>C",
"hgvs_p": "p.Tyr99His",
"transcript": "NM_001114173.3",
"protein_id": "NP_001107645.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 141,
"cds_start": 295,
"cds_end": null,
"cds_length": 426,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 6056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.295T>C",
"hgvs_p": "p.Tyr99His",
"transcript": "NM_148170.5",
"protein_id": "NP_680475.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 137,
"cds_start": 295,
"cds_end": null,
"cds_length": 414,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 6100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.295T>C",
"hgvs_p": "p.Tyr99His",
"transcript": "ENST00000677106.1",
"protein_id": "ENSP00000504568.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 137,
"cds_start": 295,
"cds_end": null,
"cds_length": 414,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.295T>C",
"hgvs_p": "p.Tyr99His",
"transcript": "ENST00000679199.1",
"protein_id": "ENSP00000504179.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 134,
"cds_start": 295,
"cds_end": null,
"cds_length": 405,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 1604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.295T>C",
"hgvs_p": "p.Tyr99His",
"transcript": "ENST00000677976.1",
"protein_id": "ENSP00000502887.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 117,
"cds_start": 295,
"cds_end": null,
"cds_length": 354,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "n.359T>C",
"hgvs_p": null,
"transcript": "ENST00000533865.6",
"protein_id": null,
"transcript_support_level": 4,
"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": 7564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "n.343T>C",
"hgvs_p": null,
"transcript": "ENST00000533897.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 6119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "n.349T>C",
"hgvs_p": null,
"transcript": "ENST00000534131.2",
"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": 672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "n.1513T>C",
"hgvs_p": null,
"transcript": "ENST00000676529.1",
"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": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "n.*102T>C",
"hgvs_p": null,
"transcript": "ENST00000676612.1",
"protein_id": "ENSP00000504440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "n.295T>C",
"hgvs_p": null,
"transcript": "ENST00000677208.1",
"protein_id": "ENSP00000504347.1",
"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,
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"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "n.295T>C",
"hgvs_p": null,
"transcript": "ENST00000677661.1",
"protein_id": "ENSP00000503323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "n.*102T>C",
"hgvs_p": null,
"transcript": "ENST00000677796.1",
"protein_id": "ENSP00000504297.1",
"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": 764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "n.295T>C",
"hgvs_p": null,
"transcript": "ENST00000677802.1",
"protein_id": "ENSP00000504115.1",
"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": 1957,
"mane_select": null,
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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{
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000227266.10",
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],
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],
"clinvar_disease": " aggressive 1,Haim-Munk syndrome,Papillon-Lefèvre syndrome,Periodontitis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Papillon-Lefèvre syndrome;Haim-Munk syndrome;Periodontitis, aggressive 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}