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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: 1-1095185-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1095185&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1095185,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001330306.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-135-3082G>A",
"hgvs_p": null,
"transcript": "NM_017891.5",
"protein_id": "NP_060361.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 198,
"cds_start": null,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000421241.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017891.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-135-3082G>A",
"hgvs_p": null,
"transcript": "ENST00000421241.7",
"protein_id": "ENSP00000400736.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 198,
"cds_start": null,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017891.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421241.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-135-3082G>A",
"hgvs_p": null,
"transcript": "NM_001330306.2",
"protein_id": "NP_001317235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": null,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330306.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-135-3082G>A",
"hgvs_p": null,
"transcript": "ENST00000379339.5",
"protein_id": "ENSP00000368644.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": null,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379339.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-135-3082G>A",
"hgvs_p": null,
"transcript": "NM_001363525.2",
"protein_id": "NP_001350454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363525.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-135-3082G>A",
"hgvs_p": null,
"transcript": "ENST00000871970.1",
"protein_id": "ENSP00000542029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871970.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-183-61G>A",
"hgvs_p": null,
"transcript": "ENST00000871977.1",
"protein_id": "ENSP00000542036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871977.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-325-2892G>A",
"hgvs_p": null,
"transcript": "ENST00000871978.1",
"protein_id": "ENSP00000542037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871978.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-135-3082G>A",
"hgvs_p": null,
"transcript": "ENST00000934530.1",
"protein_id": "ENSP00000604589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934530.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-22-3620G>A",
"hgvs_p": null,
"transcript": "ENST00000962843.1",
"protein_id": "ENSP00000632902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962843.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-135-3082G>A",
"hgvs_p": null,
"transcript": "ENST00000871971.1",
"protein_id": "ENSP00000542030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871971.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-135-3082G>A",
"hgvs_p": null,
"transcript": "ENST00000871980.1",
"protein_id": "ENSP00000542039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871980.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-22-3620G>A",
"hgvs_p": null,
"transcript": "ENST00000962840.1",
"protein_id": "ENSP00000632899.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 234,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962840.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-183-61G>A",
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"transcript": "ENST00000962842.1",
"protein_id": "ENSP00000632901.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000962842.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-135-3082G>A",
"hgvs_p": null,
"transcript": "ENST00000871974.1",
"protein_id": "ENSP00000542033.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 232,
"cds_start": null,
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"cds_length": 699,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871974.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-135-3082G>A",
"hgvs_p": null,
"transcript": "ENST00000871975.1",
"protein_id": "ENSP00000542034.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000871975.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-135-3082G>A",
"hgvs_p": null,
"transcript": "ENST00000934535.1",
"protein_id": "ENSP00000604594.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934535.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-135-3082G>A",
"hgvs_p": null,
"transcript": "ENST00000434641.5",
"protein_id": "ENSP00000390635.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"mane_select": null,
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"feature": "ENST00000434641.5"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-135-3082G>A",
"hgvs_p": null,
"transcript": "ENST00000934532.1",
"protein_id": "ENSP00000604591.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-135-3082G>A",
"hgvs_p": null,
"transcript": "ENST00000379319.5",
"protein_id": "ENSP00000368623.1",
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"feature": "ENST00000379319.5"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-183-61G>A",
"hgvs_p": null,
"transcript": "ENST00000871969.1",
"protein_id": "ENSP00000542028.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 198,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871969.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1orf159",
"gene_hgnc_id": 26062,
"hgvs_c": "c.-135-3082G>A",
"hgvs_p": null,
"transcript": "ENST00000871972.1",
"protein_id": "ENSP00000542031.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 198,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871972.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.364,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001330306.2",
"gene_symbol": "C1orf159",
"hgnc_id": 26062,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-135-3082G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}