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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: 10-75029723-AAGTGCCATCTC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=75029723&ref=AAGTGCCATCTC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 75029723,
"ref": "AAGTGCCATCTC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000287239.10",
"consequences": [
{
"aa_ref": "SVPSL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4911_4921delAGTGCCATCTC",
"hgvs_p": "p.Val1638fs",
"transcript": "NM_012330.4",
"protein_id": "NP_036462.2",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 2073,
"cds_start": 4911,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 5425,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": "ENST00000287239.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SVPSL",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4911_4921delAGTGCCATCTC",
"hgvs_p": "p.Val1638fs",
"transcript": "ENST00000287239.10",
"protein_id": "ENSP00000287239.4",
"transcript_support_level": 1,
"aa_start": 1637,
"aa_end": null,
"aa_length": 2073,
"cds_start": 4911,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 5425,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": "NM_012330.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SVPSL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4362_4372delAGTGCCATCTC",
"hgvs_p": "p.Val1455fs",
"transcript": "ENST00000372711.2",
"protein_id": "ENSP00000361796.1",
"transcript_support_level": 1,
"aa_start": 1454,
"aa_end": null,
"aa_length": 1890,
"cds_start": 4362,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 4747,
"cdna_end": null,
"cdna_length": 7297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SVPSL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4911_4921delAGTGCCATCTC",
"hgvs_p": "p.Val1638fs",
"transcript": "NM_001370136.1",
"protein_id": "NP_001357065.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 2073,
"cds_start": 4911,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 5435,
"cdna_end": null,
"cdna_length": 8324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SVPSL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4911_4921delAGTGCCATCTC",
"hgvs_p": "p.Val1638fs",
"transcript": "NM_001370137.1",
"protein_id": "NP_001357066.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 2073,
"cds_start": 4911,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 5456,
"cdna_end": null,
"cdna_length": 8345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SVPSL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4911_4921delAGTGCCATCTC",
"hgvs_p": "p.Val1638fs",
"transcript": "ENST00000648725.1",
"protein_id": "ENSP00000497841.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 2073,
"cds_start": 4911,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 5660,
"cdna_end": null,
"cdna_length": 8209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SVPSL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4911_4921delAGTGCCATCTC",
"hgvs_p": "p.Val1638fs",
"transcript": "ENST00000649463.1",
"protein_id": "ENSP00000497166.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 2073,
"cds_start": 4911,
"cds_end": null,
"cds_length": 6222,
"cdna_start": 5422,
"cdna_end": null,
"cdna_length": 7908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SVPSL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4362_4372delAGTGCCATCTC",
"hgvs_p": "p.Val1455fs",
"transcript": "NM_001256468.2",
"protein_id": "NP_001243397.1",
"transcript_support_level": null,
"aa_start": 1454,
"aa_end": null,
"aa_length": 1890,
"cds_start": 4362,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 4876,
"cdna_end": null,
"cdna_length": 7765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SVPSL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4362_4372delAGTGCCATCTC",
"hgvs_p": "p.Val1455fs",
"transcript": "NM_001370138.1",
"protein_id": "NP_001357067.1",
"transcript_support_level": null,
"aa_start": 1454,
"aa_end": null,
"aa_length": 1890,
"cds_start": 4362,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 4886,
"cdna_end": null,
"cdna_length": 7775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SVPSL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4362_4372delAGTGCCATCTC",
"hgvs_p": "p.Val1455fs",
"transcript": "ENST00000372724.6",
"protein_id": "ENSP00000361809.2",
"transcript_support_level": 5,
"aa_start": 1454,
"aa_end": null,
"aa_length": 1890,
"cds_start": 4362,
"cds_end": null,
"cds_length": 5673,
"cdna_start": 5027,
"cdna_end": null,
"cdna_length": 7571,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4035_4045delAGTGCCATCTC",
"hgvs_p": "p.Val1346fs",
"transcript": "NM_001256469.2",
"protein_id": "NP_001243398.1",
"transcript_support_level": null,
"aa_start": 1345,
"aa_end": null,
"aa_length": 1781,
"cds_start": 4035,
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"cdna_start": 4549,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4035_4045delAGTGCCATCTC",
"hgvs_p": "p.Val1346fs",
"transcript": "NM_001370139.1",
"protein_id": "NP_001357068.1",
"transcript_support_level": null,
"aa_start": 1345,
"aa_end": null,
"aa_length": 1781,
"cds_start": 4035,
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"cdna_start": 4496,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4035_4045delAGTGCCATCTC",
"hgvs_p": "p.Val1346fs",
"transcript": "NM_001370140.1",
"protein_id": "NP_001357069.1",
"transcript_support_level": null,
"aa_start": 1345,
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"cds_start": 4035,
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"cdna_start": 4559,
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "KAT6B",
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"hgvs_c": "c.4035_4045delAGTGCCATCTC",
"hgvs_p": "p.Val1346fs",
"transcript": "NM_001370141.1",
"protein_id": "NP_001357070.1",
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"aa_start": 1345,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4035_4045delAGTGCCATCTC",
"hgvs_p": "p.Val1346fs",
"transcript": "NM_001370142.1",
"protein_id": "NP_001357071.1",
"transcript_support_level": null,
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"feature": null
},
{
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],
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"intron_rank": null,
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"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4035_4045delAGTGCCATCTC",
"hgvs_p": "p.Val1346fs",
"transcript": "ENST00000372714.6",
"protein_id": "ENSP00000361799.1",
"transcript_support_level": 5,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4035_4045delAGTGCCATCTC",
"hgvs_p": "p.Val1346fs",
"transcript": "ENST00000372725.6",
"protein_id": "ENSP00000361810.1",
"transcript_support_level": 5,
"aa_start": 1345,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4035_4045delAGTGCCATCTC",
"hgvs_p": "p.Val1346fs",
"transcript": "ENST00000648892.1",
"protein_id": "ENSP00000497048.1",
"transcript_support_level": null,
"aa_start": 1345,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 17,
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"intron_rank": null,
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"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.4035_4045delAGTGCCATCTC",
"hgvs_p": "p.Val1346fs",
"transcript": "ENST00000649006.1",
"protein_id": "ENSP00000498139.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 17,
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"intron_rank": null,
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"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3873_3883delAGTGCCATCTC",
"hgvs_p": "p.Val1292fs",
"transcript": "NM_001370132.1",
"protein_id": "NP_001357061.1",
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"aa_start": 1291,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3846_3856delAGTGCCATCTC",
"hgvs_p": "p.Val1283fs",
"transcript": "NM_001370143.1",
"protein_id": "NP_001357072.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1718,
"cds_start": 3846,
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"cdna_start": 4300,
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"cdna_length": 7189,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.3846_3856delAGTGCCATCTC",
"hgvs_p": "p.Val1283fs",
"transcript": "NM_001370144.1",
"protein_id": "NP_001357073.1",
"transcript_support_level": null,
"aa_start": 1282,
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"cds_start": 3846,
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"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.674,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000287239.10",
"gene_symbol": "KAT6B",
"hgnc_id": 17582,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4911_4921delAGTGCCATCTC",
"hgvs_p": "p.Val1638fs"
}
],
"clinvar_disease": " SBBYS type,Blepharophimosis - intellectual disability syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:2 O:1",
"phenotype_combined": "not provided|Blepharophimosis - intellectual disability syndrome, SBBYS type",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}