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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: 2-127050470-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127050470&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 127050470,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000316724.10",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1625A>G",
"hgvs_p": "p.Lys542Arg",
"transcript": "NM_139343.3",
"protein_id": "NP_647593.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 593,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": "ENST00000316724.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1625A>G",
"hgvs_p": "p.Lys542Arg",
"transcript": "ENST00000316724.10",
"protein_id": "ENSP00000316779.5",
"transcript_support_level": 1,
"aa_start": 542,
"aa_end": null,
"aa_length": 593,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": "NM_139343.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1496A>G",
"hgvs_p": "p.Lys499Arg",
"transcript": "ENST00000357970.7",
"protein_id": "ENSP00000350654.3",
"transcript_support_level": 1,
"aa_start": 499,
"aa_end": null,
"aa_length": 550,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 2497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1400A>G",
"hgvs_p": "p.Lys467Arg",
"transcript": "ENST00000346226.7",
"protein_id": "ENSP00000315411.3",
"transcript_support_level": 1,
"aa_start": 467,
"aa_end": null,
"aa_length": 518,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1364A>G",
"hgvs_p": "p.Lys455Arg",
"transcript": "ENST00000351659.7",
"protein_id": "ENSP00000315388.3",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 506,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1337A>G",
"hgvs_p": "p.Lys446Arg",
"transcript": "ENST00000259238.8",
"protein_id": "ENSP00000259238.4",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 497,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Lys431Arg",
"transcript": "ENST00000393040.7",
"protein_id": "ENSP00000376760.3",
"transcript_support_level": 1,
"aa_start": 431,
"aa_end": null,
"aa_length": 482,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1271A>G",
"hgvs_p": "p.Lys424Arg",
"transcript": "ENST00000393041.7",
"protein_id": "ENSP00000376761.3",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 475,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1208A>G",
"hgvs_p": "p.Lys403Arg",
"transcript": "ENST00000352848.8",
"protein_id": "ENSP00000315284.4",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 454,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 2070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1163A>G",
"hgvs_p": "p.Lys388Arg",
"transcript": "ENST00000409400.1",
"protein_id": "ENSP00000386797.1",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 439,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1118A>G",
"hgvs_p": "p.Lys373Arg",
"transcript": "ENST00000376113.6",
"protein_id": "ENSP00000365281.2",
"transcript_support_level": 1,
"aa_start": 373,
"aa_end": null,
"aa_length": 424,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1073A>G",
"hgvs_p": "p.Lys358Arg",
"transcript": "ENST00000348750.8",
"protein_id": "ENSP00000259237.5",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 409,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1544A>G",
"hgvs_p": "p.Lys515Arg",
"transcript": "NM_001320642.1",
"protein_id": "NP_001307571.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 566,
"cds_start": 1544,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Lys511Arg",
"transcript": "NM_001320641.2",
"protein_id": "NP_001307570.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 562,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1743,
"cdna_end": null,
"cdna_length": 2394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1496A>G",
"hgvs_p": "p.Lys499Arg",
"transcript": "NM_139344.3",
"protein_id": "NP_647594.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 550,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1400A>G",
"hgvs_p": "p.Lys467Arg",
"transcript": "NM_139347.3",
"protein_id": "NP_647597.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 518,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1385A>G",
"hgvs_p": "p.Lys462Arg",
"transcript": "NM_001320640.2",
"protein_id": "NP_001307569.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 513,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1364A>G",
"hgvs_p": "p.Lys455Arg",
"transcript": "NM_139345.3",
"protein_id": "NP_647595.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 506,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1337A>G",
"hgvs_p": "p.Lys446Arg",
"transcript": "NM_139346.3",
"protein_id": "NP_647596.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 497,
"cds_start": 1337,
"cds_end": null,
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"cdna_start": 1548,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1292A>G",
"hgvs_p": "p.Lys431Arg",
"transcript": "NM_139348.3",
"protein_id": "NP_647598.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 482,
"cds_start": 1292,
"cds_end": null,
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"cdna_start": 1503,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1271A>G",
"hgvs_p": "p.Lys424Arg",
"transcript": "NM_139349.3",
"protein_id": "NP_647599.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 475,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1256A>G",
"hgvs_p": "p.Lys419Arg",
"transcript": "NM_001320633.2",
"protein_id": "NP_001307562.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 470,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1208A>G",
"hgvs_p": "p.Lys403Arg",
"transcript": "NM_004305.4",
"protein_id": "NP_004296.1",
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],
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"computational_score_selected": 0.008784085512161255,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -13,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
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"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000316724.10",
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"effects": [
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],
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],
"clinvar_disease": " 2, centronuclear,Myopathy,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:7",
"phenotype_combined": "not specified|Myopathy, centronuclear, 2|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}