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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: 19-48615440-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48615440&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RPL18",
"hgnc_id": 10310,
"hgvs_c": "c.499G>C",
"hgvs_p": "p.Val167Leu",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_000979.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.918,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7097146511077881,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 188,
"aa_ref": "V",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 643,
"cdna_start": 534,
"cds_end": null,
"cds_length": 567,
"cds_start": 499,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000979.4",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.499G>C",
"hgvs_p": "p.Val167Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000549920.6",
"protein_coding": true,
"protein_id": "NP_000970.1",
"strand": false,
"transcript": "NM_000979.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 188,
"aa_ref": "V",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 643,
"cdna_start": 534,
"cds_end": null,
"cds_length": 567,
"cds_start": 499,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000549920.6",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.499G>C",
"hgvs_p": "p.Val167Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000979.4",
"protein_coding": true,
"protein_id": "ENSP00000447001.1",
"strand": false,
"transcript": "ENST00000549920.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 189,
"aa_ref": "V",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 612,
"cdna_start": 503,
"cds_end": null,
"cds_length": 570,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000084795.9",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.502G>C",
"hgvs_p": "p.Val168Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000084795.5",
"strand": false,
"transcript": "ENST00000084795.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 185,
"aa_ref": "V",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 674,
"cdna_start": 560,
"cds_end": null,
"cds_length": 558,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000919794.1",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.490G>C",
"hgvs_p": "p.Val164Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589853.1",
"strand": false,
"transcript": "ENST00000919794.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 183,
"aa_ref": "V",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 624,
"cdna_start": 516,
"cds_end": null,
"cds_length": 552,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000950806.1",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.484G>C",
"hgvs_p": "p.Val162Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620865.1",
"strand": false,
"transcript": "ENST00000950806.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 166,
"aa_ref": "V",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 541,
"cdna_start": 434,
"cds_end": null,
"cds_length": 501,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000546623.5",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Val145Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446634.1",
"strand": false,
"transcript": "ENST00000546623.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 161,
"aa_ref": "V",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 554,
"cdna_start": 450,
"cds_end": null,
"cds_length": 486,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000919803.1",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.418G>C",
"hgvs_p": "p.Val140Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589862.1",
"strand": false,
"transcript": "ENST00000919803.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 159,
"aa_ref": "V",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 556,
"cdna_start": 447,
"cds_end": null,
"cds_length": 480,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001270490.2",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.412G>C",
"hgvs_p": "p.Val138Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257419.1",
"strand": false,
"transcript": "NM_001270490.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 159,
"aa_ref": "V",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 559,
"cdna_start": 450,
"cds_end": null,
"cds_length": 480,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000552588.5",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.412G>C",
"hgvs_p": "p.Val138Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449204.1",
"strand": false,
"transcript": "ENST00000552588.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 155,
"aa_ref": "V",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 626,
"cdna_start": 470,
"cds_end": null,
"cds_length": 468,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000919793.1",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.400G>C",
"hgvs_p": "p.Val134Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589852.1",
"strand": false,
"transcript": "ENST00000919793.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 155,
"aa_ref": "V",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 548,
"cdna_start": 436,
"cds_end": null,
"cds_length": 468,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000919801.1",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.400G>C",
"hgvs_p": "p.Val134Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589860.1",
"strand": false,
"transcript": "ENST00000919801.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 152,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 542,
"cdna_start": 431,
"cds_end": null,
"cds_length": 459,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000919799.1",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.391G>C",
"hgvs_p": "p.Val131Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589858.1",
"strand": false,
"transcript": "ENST00000919799.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 134,
"aa_ref": "V",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 490,
"cdna_start": 379,
"cds_end": null,
"cds_length": 405,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000919797.1",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.337G>C",
"hgvs_p": "p.Val113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589856.1",
"strand": false,
"transcript": "ENST00000919797.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 133,
"aa_ref": "V",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 463,
"cdna_start": 354,
"cds_end": null,
"cds_length": 402,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000550645.5",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.334G>C",
"hgvs_p": "p.Val112Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448899.1",
"strand": false,
"transcript": "ENST00000550645.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 129,
"aa_ref": "V",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1111,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 390,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000550973.5",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Val115Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447894.1",
"strand": false,
"transcript": "ENST00000550973.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 119,
"aa_ref": "V",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 444,
"cdna_start": 332,
"cds_end": null,
"cds_length": 360,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919798.1",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.292G>C",
"hgvs_p": "p.Val98Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589857.1",
"strand": false,
"transcript": "ENST00000919798.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 108,
"aa_ref": "V",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 406,
"cdna_start": 299,
"cds_end": null,
"cds_length": 327,
"cds_start": 259,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000919802.1",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.259G>C",
"hgvs_p": "p.Val87Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589861.1",
"strand": false,
"transcript": "ENST00000919802.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 90,
"aa_ref": "V",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 367,
"cdna_start": 256,
"cds_end": null,
"cds_length": 273,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000919796.1",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.205G>C",
"hgvs_p": "p.Val69Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589855.1",
"strand": false,
"transcript": "ENST00000919796.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 164,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1036,
"cdna_start": null,
"cds_end": null,
"cds_length": 495,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000549273.5",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.*433G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449610.1",
"strand": false,
"transcript": "ENST00000549273.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 169,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 568,
"cdna_start": null,
"cds_end": null,
"cds_length": 510,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901609.1",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.463-21G>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571668.1",
"strand": false,
"transcript": "ENST00000901609.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 447,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919800.1",
"gene_hgnc_id": 10310,
"gene_symbol": "RPL18",
"hgvs_c": "c.353-55G>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589859.1",
"strand": false,
"transcript": "ENST00000919800.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 45,
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