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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: 1-9733544-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=9733544&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "CLSTN1",
"hgnc_id": 17447,
"hgvs_c": "c.2284G>T",
"hgvs_p": "p.Val762Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001009566.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.4524,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3758693039417267,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 981,
"aa_ref": "V",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4760,
"cdna_start": 2516,
"cds_end": null,
"cds_length": 2946,
"cds_start": 2284,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001009566.3",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.2284G>T",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377298.9",
"protein_coding": true,
"protein_id": "NP_001009566.1",
"strand": false,
"transcript": "NM_001009566.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 981,
"aa_ref": "V",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4760,
"cdna_start": 2516,
"cds_end": null,
"cds_length": 2946,
"cds_start": 2284,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000377298.9",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.2284G>T",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001009566.3",
"protein_coding": true,
"protein_id": "ENSP00000366513.4",
"strand": false,
"transcript": "ENST00000377298.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 971,
"aa_ref": "V",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4647,
"cdna_start": 2505,
"cds_end": null,
"cds_length": 2916,
"cds_start": 2254,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000361311.4",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.2254G>T",
"hgvs_p": "p.Val752Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354997.4",
"strand": false,
"transcript": "ENST00000361311.4",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 983,
"aa_ref": "V",
"aa_start": 764,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4660,
"cdna_start": 2516,
"cds_end": null,
"cds_length": 2952,
"cds_start": 2290,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872287.1",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.2290G>T",
"hgvs_p": "p.Val764Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542346.1",
"strand": false,
"transcript": "ENST00000872287.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 981,
"aa_ref": "V",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4682,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 2946,
"cds_start": 2284,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000872285.1",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.2284G>T",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542344.1",
"strand": false,
"transcript": "ENST00000872285.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 971,
"aa_ref": "V",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5196,
"cdna_start": 3047,
"cds_end": null,
"cds_length": 2916,
"cds_start": 2254,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_014944.4",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.2254G>T",
"hgvs_p": "p.Val752Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055759.3",
"strand": false,
"transcript": "NM_014944.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 971,
"aa_ref": "V",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4635,
"cdna_start": 2486,
"cds_end": null,
"cds_length": 2916,
"cds_start": 2254,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000932459.1",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.2254G>T",
"hgvs_p": "p.Val752Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602518.1",
"strand": false,
"transcript": "ENST00000932459.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 970,
"aa_ref": "V",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4585,
"cdna_start": 2437,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2251,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000960690.1",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.2251G>T",
"hgvs_p": "p.Val751Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630749.1",
"strand": false,
"transcript": "ENST00000960690.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 969,
"aa_ref": "V",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4660,
"cdna_start": 2505,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2248,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000872284.1",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.2248G>T",
"hgvs_p": "p.Val750Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542343.1",
"strand": false,
"transcript": "ENST00000872284.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 969,
"aa_ref": "V",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4605,
"cdna_start": 2462,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2248,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000960689.1",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.2248G>T",
"hgvs_p": "p.Val750Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630748.1",
"strand": false,
"transcript": "ENST00000960689.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 963,
"aa_ref": "V",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3690,
"cdna_start": 2490,
"cds_end": null,
"cds_length": 2892,
"cds_start": 2230,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872288.1",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.2230G>T",
"hgvs_p": "p.Val744Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542347.1",
"strand": false,
"transcript": "ENST00000872288.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 962,
"aa_ref": "V",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5169,
"cdna_start": 3020,
"cds_end": null,
"cds_length": 2889,
"cds_start": 2227,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001302883.1",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.2227G>T",
"hgvs_p": "p.Val743Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289812.1",
"strand": false,
"transcript": "NM_001302883.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 957,
"aa_ref": "V",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4556,
"cdna_start": 2412,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000932463.1",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.2212G>T",
"hgvs_p": "p.Val738Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602522.1",
"strand": false,
"transcript": "ENST00000932463.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 930,
"aa_ref": "V",
"aa_start": 711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4495,
"cdna_start": 2353,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2131,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000932460.1",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.2131G>T",
"hgvs_p": "p.Val711Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602519.1",
"strand": false,
"transcript": "ENST00000932460.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 927,
"aa_ref": "V",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4467,
"cdna_start": 2321,
"cds_end": null,
"cds_length": 2784,
"cds_start": 2122,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000932462.1",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.2122G>T",
"hgvs_p": "p.Val708Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602521.1",
"strand": false,
"transcript": "ENST00000932462.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 898,
"aa_ref": "V",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3439,
"cdna_start": 2249,
"cds_end": null,
"cds_length": 2697,
"cds_start": 2035,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000960691.1",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.2035G>T",
"hgvs_p": "p.Val679Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630750.1",
"strand": false,
"transcript": "ENST00000960691.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 888,
"aa_ref": "V",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4398,
"cdna_start": 2249,
"cds_end": null,
"cds_length": 2667,
"cds_start": 2005,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000932458.1",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.2005G>T",
"hgvs_p": "p.Val669Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602517.1",
"strand": false,
"transcript": "ENST00000932458.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 859,
"aa_ref": "V",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4292,
"cdna_start": 2150,
"cds_end": null,
"cds_length": 2580,
"cds_start": 1918,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000872286.1",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.1918G>T",
"hgvs_p": "p.Val640Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542345.1",
"strand": false,
"transcript": "ENST00000872286.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 817,
"aa_ref": "V",
"aa_start": 598,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": 2006,
"cds_end": null,
"cds_length": 2454,
"cds_start": 1792,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000932461.1",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.1792G>T",
"hgvs_p": "p.Val598Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602520.1",
"strand": false,
"transcript": "ENST00000932461.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 782,
"aa_ref": "V",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3829,
"cdna_start": 1687,
"cds_end": null,
"cds_length": 2349,
"cds_start": 1687,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000435891.5",
"gene_hgnc_id": 17447,
"gene_symbol": "CLSTN1",
"hgvs_c": "c.1687G>T",
"hgvs_p": "p.Val563Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401934.1",
"strand": false,
"transcript": "ENST00000435891.5",
"transcript_support_level": 2
},
{
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