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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: 1-155660417-TCAGA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155660417&ref=TCAGA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155660417,
"ref": "TCAGA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000355499.9",
"consequences": [
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1489_1492delTCTG",
"hgvs_p": "p.Glu498fs",
"transcript": "NM_139119.3",
"protein_id": "NP_620830.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 750,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": "ENST00000355499.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1489_1492delTCTG",
"hgvs_p": "p.Glu498fs",
"transcript": "ENST00000355499.9",
"protein_id": "ENSP00000347686.4",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 750,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": "NM_139119.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1843_1846delTCTG",
"hgvs_p": "p.Glu616fs",
"transcript": "ENST00000368340.10",
"protein_id": "ENSP00000357324.5",
"transcript_support_level": 1,
"aa_start": 615,
"aa_end": null,
"aa_length": 868,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 2052,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1489_1492delTCTG",
"hgvs_p": "p.Glu498fs",
"transcript": "ENST00000347088.9",
"protein_id": "ENSP00000316079.6",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 750,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 2524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1489_1492delTCTG",
"hgvs_p": "p.Glu498fs",
"transcript": "ENST00000368330.6",
"protein_id": "ENSP00000357314.2",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 750,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1456_1459delTCTG",
"hgvs_p": "p.Glu487fs",
"transcript": "ENST00000359205.9",
"protein_id": "ENSP00000352134.5",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 739,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1456_1459delTCTG",
"hgvs_p": "p.Glu487fs",
"transcript": "ENST00000361831.9",
"protein_id": "ENSP00000355298.5",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 739,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1429_1432delTCTG",
"hgvs_p": "p.Glu478fs",
"transcript": "ENST00000404643.5",
"protein_id": "ENSP00000385390.1",
"transcript_support_level": 1,
"aa_start": 477,
"aa_end": null,
"aa_length": 730,
"cds_start": 1429,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "n.*987_*990delTCTG",
"hgvs_p": null,
"transcript": "ENST00000361140.8",
"protein_id": "ENSP00000354716.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "n.*1498_*1501delTCTG",
"hgvs_p": null,
"transcript": "ENST00000436865.5",
"protein_id": "ENSP00000390116.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "n.*987_*990delTCTG",
"hgvs_p": null,
"transcript": "ENST00000361140.8",
"protein_id": "ENSP00000354716.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "n.*1498_*1501delTCTG",
"hgvs_p": null,
"transcript": "ENST00000436865.5",
"protein_id": "ENSP00000390116.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1903_1906delTCTG",
"hgvs_p": "p.Glu636fs",
"transcript": "NM_001198903.1",
"protein_id": "NP_001185832.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 888,
"cds_start": 1903,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1903_1906delTCTG",
"hgvs_p": "p.Glu636fs",
"transcript": "ENST00000368339.10",
"protein_id": "ENSP00000357323.5",
"transcript_support_level": 2,
"aa_start": 635,
"aa_end": null,
"aa_length": 888,
"cds_start": 1903,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 3065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1843_1846delTCTG",
"hgvs_p": "p.Glu616fs",
"transcript": "NM_001198904.1",
"protein_id": "NP_001185833.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 868,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 3014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1687_1690delTCTG",
"hgvs_p": "p.Glu564fs",
"transcript": "ENST00000715146.1",
"protein_id": "ENSP00000520347.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 816,
"cds_start": 1687,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 2965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1627_1630delTCTG",
"hgvs_p": "p.Glu544fs",
"transcript": "NM_139118.3",
"protein_id": "NP_620829.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 796,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 2614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1627_1630delTCTG",
"hgvs_p": "p.Glu544fs",
"transcript": "ENST00000295566.8",
"protein_id": "ENSP00000295566.4",
"transcript_support_level": 2,
"aa_start": 543,
"aa_end": null,
"aa_length": 796,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1489_1492delTCTG",
"hgvs_p": "p.Glu498fs",
"transcript": "NM_001198901.2",
"protein_id": "NP_001185830.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 750,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1489_1492delTCTG",
"hgvs_p": "p.Glu498fs",
"transcript": "NM_001198902.2",
"protein_id": "NP_001185831.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 750,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 2592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1489_1492delTCTG",
"hgvs_p": "p.Glu498fs",
"transcript": "ENST00000454523.6",
"protein_id": "ENSP00000413240.2",
"transcript_support_level": 2,
"aa_start": 497,
"aa_end": null,
"aa_length": 750,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 2676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.1489_1492delTCTG",
"hgvs_p": "p.Glu498fs",
"transcript": "ENST00000714790.1",
"protein_id": "ENSP00000519998.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 750,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
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}
],
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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{
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],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Grange syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Grange syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}