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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: 12-62302818-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=62302818&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 62302818,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001252078.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "NM_001252078.2",
"protein_id": "NP_001239007.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 981,
"cds_start": 246,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000280377.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252078.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "ENST00000280377.10",
"protein_id": "ENSP00000280377.5",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 981,
"cds_start": 246,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001252078.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280377.10"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "ENST00000353364.7",
"protein_id": "ENSP00000258123.4",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 952,
"cds_start": 246,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353364.7"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "ENST00000312635.10",
"protein_id": "ENSP00000309240.6",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 235,
"cds_start": 246,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312635.10"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "ENST00000957648.1",
"protein_id": "ENSP00000627707.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 1022,
"cds_start": 246,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957648.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "ENST00000957645.1",
"protein_id": "ENSP00000627704.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 973,
"cds_start": 246,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957645.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "NM_006313.3",
"protein_id": "NP_006304.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 952,
"cds_start": 246,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006313.3"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "ENST00000913305.1",
"protein_id": "ENSP00000583364.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 944,
"cds_start": 246,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913305.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "ENST00000886868.1",
"protein_id": "ENSP00000556927.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 938,
"cds_start": 246,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886868.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "ENST00000957647.1",
"protein_id": "ENSP00000627706.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 923,
"cds_start": 246,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957647.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "ENST00000957650.1",
"protein_id": "ENSP00000627709.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 897,
"cds_start": 246,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957650.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "ENST00000886869.1",
"protein_id": "ENSP00000556928.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 894,
"cds_start": 246,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886869.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "ENST00000886867.1",
"protein_id": "ENSP00000556926.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 890,
"cds_start": 246,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886867.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "ENST00000957649.1",
"protein_id": "ENSP00000627708.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 861,
"cds_start": 246,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957649.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "ENST00000957646.1",
"protein_id": "ENSP00000627705.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 792,
"cds_start": 246,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957646.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.231C>T",
"hgvs_p": "p.His77His",
"transcript": "ENST00000549237.5",
"protein_id": "ENSP00000448393.1",
"transcript_support_level": 3,
"aa_start": 77,
"aa_end": null,
"aa_length": 239,
"cds_start": 231,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549237.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "NM_001252079.2",
"protein_id": "NP_001239008.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 235,
"cds_start": 246,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252079.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "ENST00000549523.5",
"protein_id": "ENSP00000447603.1",
"transcript_support_level": 5,
"aa_start": 82,
"aa_end": null,
"aa_length": 174,
"cds_start": 246,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549523.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.84C>T",
"hgvs_p": "p.His28His",
"transcript": "ENST00000548836.1",
"protein_id": "ENSP00000446843.1",
"transcript_support_level": 3,
"aa_start": 28,
"aa_end": null,
"aa_length": 138,
"cds_start": 84,
"cds_end": null,
"cds_length": 419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548836.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.His82His",
"transcript": "NM_001351161.2",
"protein_id": "NP_001338090.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 121,
"cds_start": 246,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351161.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.-1504C>T",
"hgvs_p": null,
"transcript": "NM_001351159.2",
"protein_id": "NP_001338088.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 860,
"cds_start": null,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351159.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.-353C>T",
"hgvs_p": null,
"transcript": "NM_001351160.2",
"protein_id": "NP_001338089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": null,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351160.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
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"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.28,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -10,
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"acmg_by_gene": [
{
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"BP7",
"BA1"
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"verdict": "Benign",
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"hgnc_id": 12613,
"effects": [
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"inheritance_mode": "AD",
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"hgvs_p": "p.His82His"
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],
"clinvar_disease": "USP15-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "USP15-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}