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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: 2-127052344-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127052344&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BIN1",
"hgnc_id": 1052,
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Gly428Arg",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_139343.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.1379,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1788025200366974,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 593,
"aa_ref": "G",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1282,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_139343.3",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Gly428Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000316724.10",
"protein_coding": true,
"protein_id": "NP_647593.1",
"strand": false,
"transcript": "NM_139343.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 593,
"aa_ref": "G",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1282,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000316724.10",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Gly428Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_139343.3",
"protein_coding": true,
"protein_id": "ENSP00000316779.5",
"strand": false,
"transcript": "ENST00000316724.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 550,
"aa_ref": "G",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2497,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 1653,
"cds_start": 1153,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000357970.7",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1153G>C",
"hgvs_p": "p.Gly385Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350654.3",
"strand": false,
"transcript": "ENST00000357970.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 518,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2401,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000346226.7",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1057G>C",
"hgvs_p": "p.Gly353Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000315411.3",
"strand": false,
"transcript": "ENST00000346226.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 506,
"aa_ref": "G",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2365,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000351659.7",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1021G>C",
"hgvs_p": "p.Gly341Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000315388.3",
"strand": false,
"transcript": "ENST00000351659.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 475,
"aa_ref": "G",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2272,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 1428,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000393041.7",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Gly310Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376761.3",
"strand": false,
"transcript": "ENST00000393041.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 497,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": null,
"cds_end": null,
"cds_length": 1494,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000259238.8",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1084-1101G>C",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000259238.4",
"strand": false,
"transcript": "ENST00000259238.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 482,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": null,
"cds_end": null,
"cds_length": 1449,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393040.7",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1039-1101G>C",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376760.3",
"strand": false,
"transcript": "ENST00000393040.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 454,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2070,
"cdna_start": null,
"cds_end": null,
"cds_length": 1365,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000352848.8",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.955-1101G>C",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000315284.4",
"strand": false,
"transcript": "ENST00000352848.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 439,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2143,
"cdna_start": null,
"cds_end": null,
"cds_length": 1320,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409400.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.910-1101G>C",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386797.1",
"strand": false,
"transcript": "ENST00000409400.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 424,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1832,
"cdna_start": null,
"cds_end": null,
"cds_length": 1275,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000376113.6",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.955-1432G>C",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365281.2",
"strand": false,
"transcript": "ENST00000376113.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 409,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": null,
"cds_end": null,
"cds_length": 1230,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000348750.8",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.910-1432G>C",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000259237.5",
"strand": false,
"transcript": "ENST00000348750.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 631,
"aa_ref": "G",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 1775,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000947993.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1396G>C",
"hgvs_p": "p.Gly466Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618052.1",
"strand": false,
"transcript": "ENST00000947993.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 618,
"aa_ref": "G",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 1339,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1282,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000948029.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Gly428Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618088.1",
"strand": false,
"transcript": "ENST00000948029.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 608,
"aa_ref": "G",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2894,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000947986.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1327G>C",
"hgvs_p": "p.Gly443Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618045.1",
"strand": false,
"transcript": "ENST00000947986.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 602,
"aa_ref": "G",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000948010.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1309G>C",
"hgvs_p": "p.Gly437Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618069.1",
"strand": false,
"transcript": "ENST00000948010.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 591,
"aa_ref": "G",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 1613,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1282,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000947995.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Gly428Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618054.1",
"strand": false,
"transcript": "ENST00000947995.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 587,
"aa_ref": "G",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2430,
"cdna_start": 1494,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1282,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000948015.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1282G>C",
"hgvs_p": "p.Gly428Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618074.1",
"strand": false,
"transcript": "ENST00000948015.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 585,
"aa_ref": "G",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2577,
"cdna_start": 1623,
"cds_end": null,
"cds_length": 1758,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000914478.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1258G>C",
"hgvs_p": "p.Gly420Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584537.1",
"strand": false,
"transcript": "ENST00000914478.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 583,
"aa_ref": "G",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": 1654,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000947989.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1252G>C",
"hgvs_p": "p.Gly418Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618048.1",
"strand": false,
"transcript": "ENST00000947989.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 571,
"aa_ref": "G",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": 1475,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1216,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000948008.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1216G>C",
"hgvs_p": "p.Gly406Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618067.1",
"strand": false,
"transcript": "ENST00000948008.1",
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