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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: 10-45727439-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=45727439&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 45727439,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000623400.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "NM_001330074.2",
"protein_id": "NP_001317003.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1341,
"cds_start": 26,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": "ENST00000623400.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "ENST00000623400.4",
"protein_id": "ENSP00000485513.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 1341,
"cds_start": 26,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": "NM_001330074.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "ENST00000374362.6",
"protein_id": "ENSP00000363482.2",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 1320,
"cds_start": 26,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 125,
"cdna_end": null,
"cdna_length": 4623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "ENST00000540872.6",
"protein_id": "ENSP00000439811.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 1279,
"cds_start": 26,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 109,
"cdna_end": null,
"cdna_length": 4327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "NM_001367395.1",
"protein_id": "NP_001354324.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1362,
"cds_start": 26,
"cds_end": null,
"cds_length": 4089,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 4705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "NM_015262.3",
"protein_id": "NP_056077.2",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1320,
"cds_start": 26,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 4579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.23A>C",
"hgvs_p": "p.Gln8Pro",
"transcript": "NM_001367393.1",
"protein_id": "NP_001354322.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1318,
"cds_start": 23,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 4647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "NM_001367403.1",
"protein_id": "NP_001354332.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1317,
"cds_start": 26,
"cds_end": null,
"cds_length": 3954,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 4570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "NM_001367400.1",
"protein_id": "NP_001354329.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1296,
"cds_start": 26,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "NM_001367401.1",
"protein_id": "NP_001354330.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1291,
"cds_start": 26,
"cds_end": null,
"cds_length": 3876,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 4492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "NM_001367404.1",
"protein_id": "NP_001354333.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1288,
"cds_start": 26,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "NM_001169106.2",
"protein_id": "NP_001162577.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1279,
"cds_start": 26,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "NM_001367408.1",
"protein_id": "NP_001354337.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1269,
"cds_start": 26,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 4426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "NM_001367396.1",
"protein_id": "NP_001354325.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1266,
"cds_start": 26,
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"cds_length": 3801,
"cdna_start": 78,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "NM_001367397.1",
"protein_id": "NP_001354326.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1265,
"cds_start": 26,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 4414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.23A>C",
"hgvs_p": "p.Gln8Pro",
"transcript": "ENST00000359860.7",
"protein_id": "ENSP00000352922.6",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 1262,
"cds_start": 23,
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"cdna_start": 144,
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"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "NM_001367394.1",
"protein_id": "NP_001354323.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1255,
"cds_start": 26,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 4384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "NM_001169107.2",
"protein_id": "NP_001162578.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1245,
"cds_start": 26,
"cds_end": null,
"cds_length": 3738,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "ENST00000537517.6",
"protein_id": "ENSP00000442128.1",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 1245,
"cds_start": 26,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "NM_001367415.1",
"protein_id": "NP_001354344.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1228,
"cds_start": 26,
"cds_end": null,
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"cdna_start": 78,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "NM_001367416.1",
"protein_id": "NP_001354345.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1208,
"cds_start": 26,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro",
"transcript": "ENST00000420848.3",
"protein_id": "ENSP00000416630.1",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 278,
"cds_start": 26,
"cds_end": null,
"cds_length": 838,
"cdna_start": 56,
"cdna_end": null,
"cdna_length": 868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
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}
],
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.437,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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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": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000623400.4",
"gene_symbol": "WASHC2C",
"hgnc_id": 23414,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.26A>C",
"hgvs_p": "p.Gln9Pro"
},
{
"score": -2,
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"criteria": [
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000608637.1",
"gene_symbol": "ENSG00000290460",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.-208T>G",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}