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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: 2-127048535-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127048535&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 127048535,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_139343.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1773G>A",
"hgvs_p": "p.Arg591Arg",
"transcript": "NM_139343.3",
"protein_id": "NP_647593.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 593,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316724.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139343.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1773G>A",
"hgvs_p": "p.Arg591Arg",
"transcript": "ENST00000316724.10",
"protein_id": "ENSP00000316779.5",
"transcript_support_level": 1,
"aa_start": 591,
"aa_end": null,
"aa_length": 593,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139343.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316724.10"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1644G>A",
"hgvs_p": "p.Arg548Arg",
"transcript": "ENST00000357970.7",
"protein_id": "ENSP00000350654.3",
"transcript_support_level": 1,
"aa_start": 548,
"aa_end": null,
"aa_length": 550,
"cds_start": 1644,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357970.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1548G>A",
"hgvs_p": "p.Arg516Arg",
"transcript": "ENST00000346226.7",
"protein_id": "ENSP00000315411.3",
"transcript_support_level": 1,
"aa_start": 516,
"aa_end": null,
"aa_length": 518,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346226.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1512G>A",
"hgvs_p": "p.Arg504Arg",
"transcript": "ENST00000351659.7",
"protein_id": "ENSP00000315388.3",
"transcript_support_level": 1,
"aa_start": 504,
"aa_end": null,
"aa_length": 506,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351659.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1485G>A",
"hgvs_p": "p.Arg495Arg",
"transcript": "ENST00000259238.8",
"protein_id": "ENSP00000259238.4",
"transcript_support_level": 1,
"aa_start": 495,
"aa_end": null,
"aa_length": 497,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259238.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1440G>A",
"hgvs_p": "p.Arg480Arg",
"transcript": "ENST00000393040.7",
"protein_id": "ENSP00000376760.3",
"transcript_support_level": 1,
"aa_start": 480,
"aa_end": null,
"aa_length": 482,
"cds_start": 1440,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393040.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Arg473Arg",
"transcript": "ENST00000393041.7",
"protein_id": "ENSP00000376761.3",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 475,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393041.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1356G>A",
"hgvs_p": "p.Arg452Arg",
"transcript": "ENST00000352848.8",
"protein_id": "ENSP00000315284.4",
"transcript_support_level": 1,
"aa_start": 452,
"aa_end": null,
"aa_length": 454,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352848.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1311G>A",
"hgvs_p": "p.Arg437Arg",
"transcript": "ENST00000409400.1",
"protein_id": "ENSP00000386797.1",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 439,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409400.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1266G>A",
"hgvs_p": "p.Arg422Arg",
"transcript": "ENST00000376113.6",
"protein_id": "ENSP00000365281.2",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 424,
"cds_start": 1266,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376113.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1221G>A",
"hgvs_p": "p.Arg407Arg",
"transcript": "ENST00000348750.8",
"protein_id": "ENSP00000259237.5",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 409,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348750.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1887G>A",
"hgvs_p": "p.Arg629Arg",
"transcript": "ENST00000947993.1",
"protein_id": "ENSP00000618052.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 631,
"cds_start": 1887,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947993.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1848G>A",
"hgvs_p": "p.Arg616Arg",
"transcript": "ENST00000948029.1",
"protein_id": "ENSP00000618088.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 618,
"cds_start": 1848,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948029.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Arg606Arg",
"transcript": "ENST00000947986.1",
"protein_id": "ENSP00000618045.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 608,
"cds_start": 1818,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947986.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1800G>A",
"hgvs_p": "p.Arg600Arg",
"transcript": "ENST00000948010.1",
"protein_id": "ENSP00000618069.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 602,
"cds_start": 1800,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948010.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1767G>A",
"hgvs_p": "p.Arg589Arg",
"transcript": "ENST00000947995.1",
"protein_id": "ENSP00000618054.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 591,
"cds_start": 1767,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947995.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1755G>A",
"hgvs_p": "p.Arg585Arg",
"transcript": "ENST00000948015.1",
"protein_id": "ENSP00000618074.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 587,
"cds_start": 1755,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948015.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1749G>A",
"hgvs_p": "p.Arg583Arg",
"transcript": "ENST00000914478.1",
"protein_id": "ENSP00000584537.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 585,
"cds_start": 1749,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914478.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1743G>A",
"hgvs_p": "p.Arg581Arg",
"transcript": "ENST00000947989.1",
"protein_id": "ENSP00000618048.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 583,
"cds_start": 1743,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947989.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1740G>A",
"hgvs_p": "p.Arg580Arg",
"transcript": "ENST00000914488.1",
"protein_id": "ENSP00000584547.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 582,
"cds_start": 1740,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914488.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1707G>A",
"hgvs_p": "p.Arg569Arg",
"transcript": "ENST00000948008.1",
"protein_id": "ENSP00000618067.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 571,
"cds_start": 1707,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.62,
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"phylop100way_prediction": "Benign",
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{
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"BP7"
],
"verdict": "Benign",
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],
"clinvar_disease": " 2, centronuclear,Myopathy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Myopathy, centronuclear, 2",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}