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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: 2-127048600-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127048600&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 127048600,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000316724.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1708G>A",
"hgvs_p": "p.Asp570Asn",
"transcript": "NM_139343.3",
"protein_id": "NP_647593.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 593,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": "ENST00000316724.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1708G>A",
"hgvs_p": "p.Asp570Asn",
"transcript": "ENST00000316724.10",
"protein_id": "ENSP00000316779.5",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 593,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": "NM_139343.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1579G>A",
"hgvs_p": "p.Asp527Asn",
"transcript": "ENST00000357970.7",
"protein_id": "ENSP00000350654.3",
"transcript_support_level": 1,
"aa_start": 527,
"aa_end": null,
"aa_length": 550,
"cds_start": 1579,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 2497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1483G>A",
"hgvs_p": "p.Asp495Asn",
"transcript": "ENST00000346226.7",
"protein_id": "ENSP00000315411.3",
"transcript_support_level": 1,
"aa_start": 495,
"aa_end": null,
"aa_length": 518,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1828,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "ENST00000351659.7",
"protein_id": "ENSP00000315388.3",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 506,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1420G>A",
"hgvs_p": "p.Asp474Asn",
"transcript": "ENST00000259238.8",
"protein_id": "ENSP00000259238.4",
"transcript_support_level": 1,
"aa_start": 474,
"aa_end": null,
"aa_length": 497,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1375G>A",
"hgvs_p": "p.Asp459Asn",
"transcript": "ENST00000393040.7",
"protein_id": "ENSP00000376760.3",
"transcript_support_level": 1,
"aa_start": 459,
"aa_end": null,
"aa_length": 482,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1354G>A",
"hgvs_p": "p.Asp452Asn",
"transcript": "ENST00000393041.7",
"protein_id": "ENSP00000376761.3",
"transcript_support_level": 1,
"aa_start": 452,
"aa_end": null,
"aa_length": 475,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1291G>A",
"hgvs_p": "p.Asp431Asn",
"transcript": "ENST00000352848.8",
"protein_id": "ENSP00000315284.4",
"transcript_support_level": 1,
"aa_start": 431,
"aa_end": null,
"aa_length": 454,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 2070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1246G>A",
"hgvs_p": "p.Asp416Asn",
"transcript": "ENST00000409400.1",
"protein_id": "ENSP00000386797.1",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 439,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1201G>A",
"hgvs_p": "p.Asp401Asn",
"transcript": "ENST00000376113.6",
"protein_id": "ENSP00000365281.2",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 424,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1156G>A",
"hgvs_p": "p.Asp386Asn",
"transcript": "ENST00000348750.8",
"protein_id": "ENSP00000259237.5",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 409,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1627G>A",
"hgvs_p": "p.Asp543Asn",
"transcript": "NM_001320642.1",
"protein_id": "NP_001307571.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 566,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 2586,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1615G>A",
"hgvs_p": "p.Asp539Asn",
"transcript": "NM_001320641.2",
"protein_id": "NP_001307570.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 562,
"cds_start": 1615,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 2394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1579G>A",
"hgvs_p": "p.Asp527Asn",
"transcript": "NM_139344.3",
"protein_id": "NP_647594.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 550,
"cds_start": 1579,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1483G>A",
"hgvs_p": "p.Asp495Asn",
"transcript": "NM_139347.3",
"protein_id": "NP_647597.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 518,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1468G>A",
"hgvs_p": "p.Asp490Asn",
"transcript": "NM_001320640.2",
"protein_id": "NP_001307569.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 513,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1447G>A",
"hgvs_p": "p.Asp483Asn",
"transcript": "NM_139345.3",
"protein_id": "NP_647595.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 506,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1420G>A",
"hgvs_p": "p.Asp474Asn",
"transcript": "NM_139346.3",
"protein_id": "NP_647596.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 497,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1375G>A",
"hgvs_p": "p.Asp459Asn",
"transcript": "NM_139348.3",
"protein_id": "NP_647598.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 482,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1354G>A",
"hgvs_p": "p.Asp452Asn",
"transcript": "NM_139349.3",
"protein_id": "NP_647599.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 475,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1339G>A",
"hgvs_p": "p.Asp447Asn",
"transcript": "NM_001320633.2",
"protein_id": "NP_001307562.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 470,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1291G>A",
"hgvs_p": "p.Asp431Asn",
"transcript": "NM_004305.4",
"protein_id": "NP_004296.1",
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{
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},
{
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],
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}
],
"gene_symbol": "BIN1",
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"dbsnp": "rs368983991",
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.6466668844223022,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.33,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2007,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.172,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000316724.10",
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"effects": [
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],
"inheritance_mode": "AR,AD,SD",
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],
"clinvar_disease": " 2, centronuclear,Myopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Myopathy, centronuclear, 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}