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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: 19-11129534-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11129534&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "LDLR",
"hgnc_id": 6547,
"hgvs_c": "c.2416delG",
"hgvs_p": "p.Val806fs",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_000527.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " 1, familial,Familial hypercholesterolemia,Hypercholesterolemia",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 860,
"aa_ref": "V",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5173,
"cdna_start": 2502,
"cds_end": null,
"cds_length": 2583,
"cds_start": 2416,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_000527.5",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.2416delG",
"hgvs_p": "p.Val806fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000558518.6",
"protein_coding": true,
"protein_id": "NP_000518.1",
"strand": true,
"transcript": "NM_000527.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 860,
"aa_ref": "V",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5173,
"cdna_start": 2502,
"cds_end": null,
"cds_length": 2583,
"cds_start": 2416,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000558518.6",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.2416delG",
"hgvs_p": "p.Val806fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000527.5",
"protein_coding": true,
"protein_id": "ENSP00000454071.1",
"strand": true,
"transcript": "ENST00000558518.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 946,
"aa_ref": "V",
"aa_start": 892,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5357,
"cdna_start": 2690,
"cds_end": null,
"cds_length": 2841,
"cds_start": 2674,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000252444.10",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.2674delG",
"hgvs_p": "p.Val892fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000252444.6",
"strand": true,
"transcript": "ENST00000252444.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 858,
"aa_ref": "V",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3144,
"cdna_start": 2487,
"cds_end": null,
"cds_length": 2577,
"cds_start": 2416,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000558013.5",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.2416delG",
"hgvs_p": "p.Val806fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453346.1",
"strand": true,
"transcript": "ENST00000558013.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 948,
"aa_ref": "G",
"aa_start": 826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2941,
"cdna_start": 2565,
"cds_end": null,
"cds_length": 2847,
"cds_start": 2478,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000557933.5",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.2478delG",
"hgvs_p": "p.Ser827fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453557.1",
"strand": true,
"transcript": "ENST00000557933.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 859,
"aa_ref": "V",
"aa_start": 805,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5212,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2413,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000913405.1",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.2413delG",
"hgvs_p": "p.Val805fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583464.1",
"strand": true,
"transcript": "ENST00000913405.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 858,
"aa_ref": "V",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5167,
"cdna_start": 2502,
"cds_end": null,
"cds_length": 2577,
"cds_start": 2416,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001195798.2",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.2416delG",
"hgvs_p": "p.Val806fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001182727.1",
"strand": true,
"transcript": "NM_001195798.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 834,
"aa_ref": "V",
"aa_start": 780,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4052,
"cdna_start": 2457,
"cds_end": null,
"cds_length": 2505,
"cds_start": 2338,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000856646.1",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.2338delG",
"hgvs_p": "p.Val780fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526705.1",
"strand": true,
"transcript": "ENST00000856646.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 820,
"aa_ref": "V",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5048,
"cdna_start": 2381,
"cds_end": null,
"cds_length": 2463,
"cds_start": 2296,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000560467.2",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.2296delG",
"hgvs_p": "p.Val766fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453513.2",
"strand": true,
"transcript": "ENST00000560467.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 819,
"aa_ref": "V",
"aa_start": 765,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5050,
"cdna_start": 2379,
"cds_end": null,
"cds_length": 2460,
"cds_start": 2293,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001195799.2",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.2293delG",
"hgvs_p": "p.Val765fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001182728.1",
"strand": true,
"transcript": "NM_001195799.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 819,
"aa_ref": "V",
"aa_start": 765,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2768,
"cdna_start": 2379,
"cds_end": null,
"cds_length": 2460,
"cds_start": 2293,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000535915.5",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.2293delG",
"hgvs_p": "p.Val765fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440520.1",
"strand": true,
"transcript": "ENST00000535915.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 809,
"aa_ref": "V",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3913,
"cdna_start": 2318,
"cds_end": null,
"cds_length": 2430,
"cds_start": 2263,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000856647.1",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.2263delG",
"hgvs_p": "p.Val755fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526706.1",
"strand": true,
"transcript": "ENST00000856647.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 803,
"aa_ref": "V",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3880,
"cdna_start": 2285,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2245,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000856648.1",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.2245delG",
"hgvs_p": "p.Val749fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526707.1",
"strand": true,
"transcript": "ENST00000856648.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 793,
"aa_ref": "V",
"aa_start": 739,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3696,
"cdna_start": 2293,
"cds_end": null,
"cds_length": 2382,
"cds_start": 2215,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000942040.1",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.2215delG",
"hgvs_p": "p.Val739fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612099.1",
"strand": true,
"transcript": "ENST00000942040.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 733,
"aa_ref": "V",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4197,
"cdna_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cds_start": 2035,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000856645.1",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.2035delG",
"hgvs_p": "p.Val679fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526704.1",
"strand": true,
"transcript": "ENST00000856645.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 731,
"aa_ref": "V",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4252,
"cdna_start": 2164,
"cds_end": null,
"cds_length": 2196,
"cds_start": 2035,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000913412.1",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.2035delG",
"hgvs_p": "p.Val679fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583471.1",
"strand": true,
"transcript": "ENST00000913412.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 716,
"aa_ref": "V",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4736,
"cdna_start": 2069,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1984,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000913410.1",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.1984delG",
"hgvs_p": "p.Val662fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583469.1",
"strand": true,
"transcript": "ENST00000913410.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 715,
"aa_ref": "V",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4759,
"cdna_start": 2078,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1981,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000913407.1",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.1981delG",
"hgvs_p": "p.Val661fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583466.1",
"strand": true,
"transcript": "ENST00000913407.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 707,
"aa_ref": "V",
"aa_start": 653,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4723,
"cdna_start": 2054,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1957,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000913408.1",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.1957delG",
"hgvs_p": "p.Val653fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583467.1",
"strand": true,
"transcript": "ENST00000913408.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 692,
"aa_ref": "V",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4669,
"cdna_start": 1998,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1912,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001195800.2",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.1912delG",
"hgvs_p": "p.Val638fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001182729.1",
"strand": true,
"transcript": "NM_001195800.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 692,
"aa_ref": "V",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": 1998,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1912,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000455727.6",
"gene_hgnc_id": 6547,
"gene_symbol": "LDLR",
"hgvs_c": "c.1912delG",
"hgvs_p": "p.Val638fs",
"intron_rank": null,
"intron_rank_end": null,
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