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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: 1-150929964-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150929964&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150929964,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001366418.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "NM_001366418.1",
"protein_id": "NP_001353347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1292,
"cds_start": -4,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4418,
"mane_select": "ENST00000692827.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "ENST00000692827.1",
"protein_id": "ENSP00000509425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1292,
"cds_start": -4,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4418,
"mane_select": "NM_001366418.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "ENST00000271640.9",
"protein_id": "ENSP00000271640.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1291,
"cds_start": -4,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "ENST00000368969.8",
"protein_id": "ENSP00000357965.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1290,
"cds_start": -4,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "ENST00000534805.5",
"protein_id": "ENSP00000436148.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 635,
"cds_start": -4,
"cds_end": null,
"cds_length": 1909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "ENST00000368962.6",
"protein_id": "ENSP00000357958.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": -4,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "NM_001366417.1",
"protein_id": "NP_001353346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1292,
"cds_start": -4,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "NM_001393958.1",
"protein_id": "NP_001380887.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1292,
"cds_start": -4,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "NM_001393959.1",
"protein_id": "NP_001380888.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1292,
"cds_start": -4,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "ENST00000692314.1",
"protein_id": "ENSP00000508664.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1292,
"cds_start": -4,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "NM_001145415.2",
"protein_id": "NP_001138887.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1291,
"cds_start": -4,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
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"cdna_length": 4415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "NM_001393960.1",
"protein_id": "NP_001380889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1291,
"cds_start": -4,
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"cds_length": 3876,
"cdna_start": null,
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"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "NM_001393961.1",
"protein_id": "NP_001380890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1291,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "NM_012432.4",
"protein_id": "NP_036564.3",
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"aa_start": null,
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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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "ENST00000498193.5",
"protein_id": "ENSP00000432348.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1258,
"cds_start": -4,
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"cds_length": 3779,
"cdna_start": null,
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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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "NM_001243491.2",
"protein_id": "NP_001230420.1",
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"cdna_start": null,
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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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "NM_001393964.1",
"protein_id": "NP_001380893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1532,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "NM_001393965.1",
"protein_id": "NP_001380894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": -4,
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"cdna_start": null,
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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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "NM_001393966.1",
"protein_id": "NP_001380895.1",
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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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "NM_001393967.1",
"protein_id": "NP_001380896.1",
"transcript_support_level": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "NM_001393968.1",
"protein_id": "NP_001380897.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": -4,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SETDB1",
"gene_hgnc_id": 10761,
"hgvs_c": "c.261-3T>C",
"hgvs_p": null,
"transcript": "ENST00000368963.5",
"protein_id": "ENSP00000357959.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": -4,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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{
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"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
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}
],
"message": null
}