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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: 2-237760140-AA-TT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=237760140&ref=AA&alt=TT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "LRRFIP1",
"hgnc_id": 6702,
"hgvs_c": "c.824_825delAAinsTT",
"hgvs_p": "p.Gln275Leu",
"inheritance_mode": "Unknown",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001137552.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 640,
"aa_ref": "Q",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4092,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001137550.2",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.1394_1395delAAinsTT",
"hgvs_p": "p.Gln465Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000308482.14",
"protein_coding": true,
"protein_id": "NP_001131022.1",
"strand": true,
"transcript": "NM_001137550.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 640,
"aa_ref": "Q",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4092,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000308482.14",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.1394_1395delAAinsTT",
"hgvs_p": "p.Gln465Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001137550.2",
"protein_coding": true,
"protein_id": "ENSP00000310109.9",
"strand": true,
"transcript": "ENST00000308482.14",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 808,
"aa_ref": "Q",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3365,
"cdna_start": 941,
"cds_end": null,
"cds_length": 2427,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392000.4",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.824_825delAAinsTT",
"hgvs_p": "p.Gln275Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375857.4",
"strand": true,
"transcript": "ENST00000392000.4",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "Q",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4370,
"cdna_start": 992,
"cds_end": null,
"cds_length": 2355,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000244815.9",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.752_753delAAinsTT",
"hgvs_p": "p.Gln251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000244815.5",
"strand": true,
"transcript": "ENST00000244815.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 752,
"aa_ref": "Q",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3709,
"cdna_start": 967,
"cds_end": null,
"cds_length": 2259,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000289175.10",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.656_657delAAinsTT",
"hgvs_p": "p.Gln219Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000289175.6",
"strand": true,
"transcript": "ENST00000289175.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 808,
"aa_ref": "Q",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4453,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 2427,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001137552.2",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.824_825delAAinsTT",
"hgvs_p": "p.Gln275Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001131024.1",
"strand": true,
"transcript": "NM_001137552.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "Q",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4381,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 2355,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004735.4",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.752_753delAAinsTT",
"hgvs_p": "p.Gln251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004726.2",
"strand": true,
"transcript": "NM_004735.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 752,
"aa_ref": "Q",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4285,
"cdna_start": 907,
"cds_end": null,
"cds_length": 2259,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001137553.2",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.656_657delAAinsTT",
"hgvs_p": "p.Gln219Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001131025.1",
"strand": true,
"transcript": "NM_001137553.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 692,
"aa_ref": "Q",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1490,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970858.1",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.1490_1491delAAinsTT",
"hgvs_p": "p.Gln497Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640917.1",
"strand": true,
"transcript": "ENST00000970858.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 687,
"aa_ref": "Q",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2905,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1535,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970877.1",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.1535_1536delAAinsTT",
"hgvs_p": "p.Gln512Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640936.1",
"strand": true,
"transcript": "ENST00000970877.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 681,
"aa_ref": "Q",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2916,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1457,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970849.1",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.1457_1458delAAinsTT",
"hgvs_p": "p.Gln486Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640908.1",
"strand": true,
"transcript": "ENST00000970849.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 672,
"aa_ref": "Q",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2834,
"cdna_start": 1522,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1490,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863735.1",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.1490_1491delAAinsTT",
"hgvs_p": "p.Gln497Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533794.1",
"strand": true,
"transcript": "ENST00000863735.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 666,
"aa_ref": "Q",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2852,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1472,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970865.1",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.1472_1473delAAinsTT",
"hgvs_p": "p.Gln491Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640924.1",
"strand": true,
"transcript": "ENST00000970865.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 661,
"aa_ref": "Q",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2844,
"cdna_start": 1532,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1457,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863717.1",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.1457_1458delAAinsTT",
"hgvs_p": "p.Gln486Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533776.1",
"strand": true,
"transcript": "ENST00000863717.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 660,
"aa_ref": "Q",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2844,
"cdna_start": 1469,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970850.1",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.1394_1395delAAinsTT",
"hgvs_p": "p.Gln465Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640909.1",
"strand": true,
"transcript": "ENST00000970850.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 659,
"aa_ref": "Q",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2778,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 1980,
"cds_start": 1451,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970925.1",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.1451_1452delAAinsTT",
"hgvs_p": "p.Gln484Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640984.1",
"strand": true,
"transcript": "ENST00000970925.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 653,
"aa_ref": "Q",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 1962,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970909.1",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.1373_1374delAAinsTT",
"hgvs_p": "p.Gln458Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640968.1",
"strand": true,
"transcript": "ENST00000970909.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 651,
"aa_ref": "Q",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3064,
"cdna_start": 1503,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1427,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970847.1",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.1427_1428delAAinsTT",
"hgvs_p": "p.Gln476Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640906.1",
"strand": true,
"transcript": "ENST00000970847.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 651,
"aa_ref": "Q",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2765,
"cdna_start": 1395,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970920.1",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.1367_1368delAAinsTT",
"hgvs_p": "p.Gln456Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640979.1",
"strand": true,
"transcript": "ENST00000970920.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 649,
"aa_ref": "Q",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2763,
"cdna_start": 1453,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1421,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970917.1",
"gene_hgnc_id": 6702,
"gene_symbol": "LRRFIP1",
"hgvs_c": "c.1421_1422delAAinsTT",
"hgvs_p": "p.Gln474Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640976.1",
"strand": true,
"transcript": "ENST00000970917.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 648,
"aa_ref": "Q",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2347,
"cdna_start": 1476,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
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