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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: 1-51393570-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=51393570&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 51393570,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001410797.1",
"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": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2119+811G>T",
"hgvs_p": null,
"transcript": "NM_001981.3",
"protein_id": "NP_001972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 896,
"cds_start": null,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371733.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001981.3"
},
{
"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": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2119+811G>T",
"hgvs_p": null,
"transcript": "ENST00000371733.8",
"protein_id": "ENSP00000360798.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 896,
"cds_start": null,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001981.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371733.8"
},
{
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1717+811G>T",
"hgvs_p": null,
"transcript": "ENST00000371730.6",
"protein_id": "ENSP00000360795.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 762,
"cds_start": null,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371730.6"
},
{
"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": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2230+811G>T",
"hgvs_p": null,
"transcript": "NM_001410797.1",
"protein_id": "NP_001397726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 933,
"cds_start": null,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410797.1"
},
{
"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": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2230+811G>T",
"hgvs_p": null,
"transcript": "ENST00000706292.1",
"protein_id": "ENSP00000516336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 933,
"cds_start": null,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706292.1"
},
{
"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": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2230+811G>T",
"hgvs_p": null,
"transcript": "ENST00000926816.1",
"protein_id": "ENSP00000596875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 933,
"cds_start": null,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926816.1"
},
{
"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": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2143+811G>T",
"hgvs_p": null,
"transcript": "ENST00000889375.1",
"protein_id": "ENSP00000559434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 904,
"cds_start": null,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889375.1"
},
{
"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": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2119+811G>T",
"hgvs_p": null,
"transcript": "ENST00000926819.1",
"protein_id": "ENSP00000596878.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 900,
"cds_start": null,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926819.1"
},
{
"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": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2119+811G>T",
"hgvs_p": null,
"transcript": "ENST00000889376.1",
"protein_id": "ENSP00000559435.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 896,
"cds_start": null,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889376.1"
},
{
"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": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2116+811G>T",
"hgvs_p": null,
"transcript": "ENST00000956029.1",
"protein_id": "ENSP00000626088.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": null,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956029.1"
},
{
"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": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2119+811G>T",
"hgvs_p": null,
"transcript": "ENST00000956027.1",
"protein_id": "ENSP00000626086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": null,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956027.1"
},
{
"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": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2119+811G>T",
"hgvs_p": null,
"transcript": "ENST00000889387.1",
"protein_id": "ENSP00000559446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 872,
"cds_start": null,
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"cds_length": 2619,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889387.1"
},
{
"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": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2029+811G>T",
"hgvs_p": null,
"transcript": "NM_001410796.1",
"protein_id": "NP_001397725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 866,
"cds_start": null,
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"cds_length": 2601,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410796.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 20,
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"gene_symbol": "EPS15",
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"hgvs_c": "c.2029+811G>T",
"hgvs_p": null,
"transcript": "ENST00000706288.1",
"protein_id": "ENSP00000516334.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706288.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2026+811G>T",
"hgvs_p": null,
"transcript": "ENST00000889378.1",
"protein_id": "ENSP00000559437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 865,
"cds_start": null,
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"cds_length": 2598,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889378.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2023+811G>T",
"hgvs_p": null,
"transcript": "ENST00000889381.1",
"protein_id": "ENSP00000559440.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000889381.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2005+811G>T",
"hgvs_p": null,
"transcript": "ENST00000889388.1",
"protein_id": "ENSP00000559447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000889388.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1993+811G>T",
"hgvs_p": null,
"transcript": "ENST00000889384.1",
"protein_id": "ENSP00000559443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000889384.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1993+8865G>T",
"hgvs_p": null,
"transcript": "ENST00000956028.1",
"protein_id": "ENSP00000626087.1",
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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": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1921+811G>T",
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"transcript": "ENST00000889382.1",
"protein_id": "ENSP00000559441.1",
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"feature": "ENST00000889382.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1915+811G>T",
"hgvs_p": null,
"transcript": "ENST00000889379.1",
"protein_id": "ENSP00000559438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"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": "ENST00000889379.1"
},
{
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1915+811G>T",
"hgvs_p": null,
"transcript": "ENST00000956031.1",
"protein_id": "ENSP00000626090.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 828,
"cds_start": null,
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"cds_length": 2487,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956031.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001410797.1",
"gene_symbol": "EPS15",
"hgnc_id": 3419,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2230+811G>T",
"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
}