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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: 6-165450268-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=165450268&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 165450268,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000539869.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.1118A>G",
"hgvs_p": "p.Tyr373Cys",
"transcript": "NM_001385079.1",
"protein_id": "NP_001372008.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1055,
"cds_start": 1118,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 9334,
"mane_select": "ENST00000539869.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.1118A>G",
"hgvs_p": "p.Tyr373Cys",
"transcript": "ENST00000539869.4",
"protein_id": "ENSP00000438284.3",
"transcript_support_level": 1,
"aa_start": 373,
"aa_end": null,
"aa_length": 1055,
"cds_start": 1118,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 9334,
"mane_select": "NM_001385079.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.494A>G",
"hgvs_p": "p.Tyr165Cys",
"transcript": "ENST00000647768.3",
"protein_id": "ENSP00000497930.3",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 847,
"cds_start": 494,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Tyr124Cys",
"transcript": "ENST00000672902.1",
"protein_id": "ENSP00000500351.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 820,
"cds_start": 371,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 8682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Tyr124Cys",
"transcript": "ENST00000672859.1",
"protein_id": "ENSP00000500900.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 806,
"cds_start": 371,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Tyr120Cys",
"transcript": "ENST00000676766.1",
"protein_id": "ENSP00000504611.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 802,
"cds_start": 359,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 4774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.326A>G",
"hgvs_p": "p.Tyr109Cys",
"transcript": "ENST00000648917.1",
"protein_id": "ENSP00000497277.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 791,
"cds_start": 326,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 8563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.320A>G",
"hgvs_p": "p.Tyr107Cys",
"transcript": "NM_001130690.3",
"protein_id": "NP_001124162.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 789,
"cds_start": 320,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 8373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.290A>G",
"hgvs_p": "p.Tyr97Cys",
"transcript": "NM_006661.4",
"protein_id": "NP_006652.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 779,
"cds_start": 290,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 8501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.269A>G",
"hgvs_p": "p.Tyr90Cys",
"transcript": "ENST00000647590.1",
"protein_id": "ENSP00000497062.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 772,
"cds_start": 269,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 8158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.80A>G",
"hgvs_p": "p.Tyr27Cys",
"transcript": "ENST00000648884.1",
"protein_id": "ENSP00000497392.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 709,
"cds_start": 80,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 8652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Tyr149Cys",
"transcript": "XM_011535387.4",
"protein_id": "XP_011533689.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 831,
"cds_start": 446,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2458,
"cdna_end": null,
"cdna_length": 10244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Tyr149Cys",
"transcript": "XM_017010194.3",
"protein_id": "XP_016865683.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 800,
"cds_start": 446,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 2458,
"cdna_end": null,
"cdna_length": 10248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.290A>G",
"hgvs_p": "p.Tyr97Cys",
"transcript": "XM_011535388.4",
"protein_id": "XP_011533690.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
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"cds_start": 290,
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"cdna_start": 651,
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"cdna_length": 8437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.290A>G",
"hgvs_p": "p.Tyr97Cys",
"transcript": "XM_047418098.1",
"protein_id": "XP_047274054.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 779,
"cds_start": 290,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 8419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.290A>G",
"hgvs_p": "p.Tyr97Cys",
"transcript": "XM_047418099.1",
"protein_id": "XP_047274055.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
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"cds_start": 290,
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"cdna_start": 6635,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.269A>G",
"hgvs_p": "p.Tyr90Cys",
"transcript": "XM_006715321.5",
"protein_id": "XP_006715384.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 772,
"cds_start": 269,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 8309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Tyr50Cys",
"transcript": "XM_017010195.3",
"protein_id": "XP_016865684.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 732,
"cds_start": 149,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 8347,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Tyr50Cys",
"transcript": "XM_047418100.1",
"protein_id": "XP_047274056.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
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"cdna_start": 969,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.80A>G",
"hgvs_p": "p.Tyr27Cys",
"transcript": "XM_047418101.1",
"protein_id": "XP_047274057.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 709,
"cds_start": 80,
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"cdna_start": 242,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Tyr149Cys",
"transcript": "XM_017010197.3",
"protein_id": "XP_016865686.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 631,
"cds_start": 446,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 2458,
"cdna_end": null,
"cdna_length": 6312,
"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": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "n.*286A>G",
"hgvs_p": null,
"transcript": "ENST00000647837.1",
"protein_id": "ENSP00000497085.1",
"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": 8233,
"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": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
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],
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"revel_score": 0.625,
"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.665,
"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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{
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"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000539869.4",
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"effects": [
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],
"inheritance_mode": "AR,AD",
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],
"clinvar_disease": "Generalized hypotonia,Global developmental delay,Infantile-onset generalized dyskinesia with orofacial involvement",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Infantile-onset generalized dyskinesia with orofacial involvement|Global developmental delay;Generalized hypotonia",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}