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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: 2-127048561-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127048561&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BIN1",
"hgnc_id": 1052,
"hgvs_c": "c.1747G>A",
"hgvs_p": "p.Val583Ile",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_139343.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 31,
"alphamissense_prediction": null,
"alphamissense_score": 0.2801,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " 2, centronuclear,Myopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3240857720375061,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 593,
"aa_ref": "V",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 1958,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_139343.3",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1747G>A",
"hgvs_p": "p.Val583Ile",
"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": "I",
"aa_end": null,
"aa_length": 593,
"aa_ref": "V",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 1958,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000316724.10",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1747G>A",
"hgvs_p": "p.Val583Ile",
"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": "I",
"aa_end": null,
"aa_length": 550,
"aa_ref": "V",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2497,
"cdna_start": 1963,
"cds_end": null,
"cds_length": 1653,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000357970.7",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1618G>A",
"hgvs_p": "p.Val540Ile",
"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": "I",
"aa_end": null,
"aa_length": 518,
"aa_ref": "V",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2401,
"cdna_start": 1867,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000346226.7",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1522G>A",
"hgvs_p": "p.Val508Ile",
"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": "I",
"aa_end": null,
"aa_length": 506,
"aa_ref": "V",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2365,
"cdna_start": 1831,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000351659.7",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Val496Ile",
"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": "I",
"aa_end": null,
"aa_length": 497,
"aa_ref": "V",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": 1804,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1459,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000259238.8",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1459G>A",
"hgvs_p": "p.Val487Ile",
"intron_rank": null,
"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": "I",
"aa_end": null,
"aa_length": 482,
"aa_ref": "V",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000393040.7",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1414G>A",
"hgvs_p": "p.Val472Ile",
"intron_rank": null,
"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": "I",
"aa_end": null,
"aa_length": 475,
"aa_ref": "V",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2272,
"cdna_start": 1738,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1393,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000393041.7",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Val465Ile",
"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": "I",
"aa_end": null,
"aa_length": 454,
"aa_ref": "V",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2070,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1330,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000352848.8",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Val444Ile",
"intron_rank": null,
"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": "I",
"aa_end": null,
"aa_length": 439,
"aa_ref": "V",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2143,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1285,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000409400.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Val429Ile",
"intron_rank": null,
"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": "I",
"aa_end": null,
"aa_length": 424,
"aa_ref": "V",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1832,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000376113.6",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Val414Ile",
"intron_rank": null,
"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": "I",
"aa_end": null,
"aa_length": 409,
"aa_ref": "V",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 1230,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000348750.8",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1195G>A",
"hgvs_p": "p.Val399Ile",
"intron_rank": null,
"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
},
{
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"aa_length": 631,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 2240,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1861,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000947993.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1861G>A",
"hgvs_p": "p.Val621Ile",
"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": "I",
"aa_end": null,
"aa_length": 618,
"aa_ref": "V",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 1879,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1822,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000948029.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1822G>A",
"hgvs_p": "p.Val608Ile",
"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": "I",
"aa_end": null,
"aa_length": 608,
"aa_ref": "V",
"aa_start": 598,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2894,
"cdna_start": 2405,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1792,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000947986.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1792G>A",
"hgvs_p": "p.Val598Ile",
"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": "I",
"aa_end": null,
"aa_length": 602,
"aa_ref": "V",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1774,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000948010.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1774G>A",
"hgvs_p": "p.Val592Ile",
"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": "I",
"aa_end": null,
"aa_length": 591,
"aa_ref": "V",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 2072,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1741,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000947995.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1741G>A",
"hgvs_p": "p.Val581Ile",
"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": "I",
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"aa_length": 587,
"aa_ref": "V",
"aa_start": 577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2430,
"cdna_start": 1941,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1729,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000948015.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1729G>A",
"hgvs_p": "p.Val577Ile",
"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": "I",
"aa_end": null,
"aa_length": 585,
"aa_ref": "V",
"aa_start": 575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2577,
"cdna_start": 2088,
"cds_end": null,
"cds_length": 1758,
"cds_start": 1723,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000914478.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1723G>A",
"hgvs_p": "p.Val575Ile",
"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": "I",
"aa_end": null,
"aa_length": 583,
"aa_ref": "V",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": 2119,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1717,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000947989.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1717G>A",
"hgvs_p": "p.Val573Ile",
"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": "I",
"aa_end": null,
"aa_length": 582,
"aa_ref": "V",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 1851,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000914488.1",
"gene_hgnc_id": 1052,
"gene_symbol": "BIN1",
"hgvs_c": "c.1714G>A",
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