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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: 11-36462488-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=36462488&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PRR5L",
"hgnc_id": 25878,
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_024841.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.152,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.18162953853607178,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3851,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001160167.2",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000530639.6",
"protein_coding": true,
"protein_id": "NP_001153639.1",
"strand": true,
"transcript": "NM_001160167.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3851,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000530639.6",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001160167.2",
"protein_coding": true,
"protein_id": "ENSP00000435050.1",
"strand": true,
"transcript": "ENST00000530639.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3930,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000378867.7",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368144.3",
"strand": true,
"transcript": "ENST00000378867.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1493,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000530627.1",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "n.305G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000530627.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 387,
"aa_ref": "V",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 1164,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000869229.1",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.916G>C",
"hgvs_p": "p.Val306Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539287.1",
"strand": true,
"transcript": "ENST00000869229.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3950,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_024841.5",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_079117.3",
"strand": true,
"transcript": "NM_024841.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4188,
"cdna_start": 1469,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869181.1",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539240.1",
"strand": true,
"transcript": "ENST00000869181.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 1516,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000869186.1",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539245.1",
"strand": true,
"transcript": "ENST00000869186.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869187.1",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539246.1",
"strand": true,
"transcript": "ENST00000869187.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3804,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869188.1",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539247.1",
"strand": true,
"transcript": "ENST00000869188.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869189.1",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539248.1",
"strand": true,
"transcript": "ENST00000869189.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2478,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869190.1",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539249.1",
"strand": true,
"transcript": "ENST00000869190.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2504,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000869192.1",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539251.1",
"strand": true,
"transcript": "ENST00000869192.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3763,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869193.1",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539252.1",
"strand": true,
"transcript": "ENST00000869193.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4240,
"cdna_start": 1524,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000869194.1",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539253.1",
"strand": true,
"transcript": "ENST00000869194.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4168,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000869195.1",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539254.1",
"strand": true,
"transcript": "ENST00000869195.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3895,
"cdna_start": 1179,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000869196.1",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539255.1",
"strand": true,
"transcript": "ENST00000869196.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4731,
"cdna_start": 2015,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000869197.1",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539256.1",
"strand": true,
"transcript": "ENST00000869197.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4361,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000869198.1",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539257.1",
"strand": true,
"transcript": "ENST00000869198.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4041,
"cdna_start": 1325,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000869199.1",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Val287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539258.1",
"strand": true,
"transcript": "ENST00000869199.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "V",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4172,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 1107,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000869200.1",
"gene_hgnc_id": 25878,
"gene_symbol": "PRR5L",
"hgvs_c": "c.859G>C",
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}
]
}