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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: 2-127051176-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127051176&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 127051176,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000316724.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1439C>T",
"hgvs_p": "p.Thr480Met",
"transcript": "NM_139343.3",
"protein_id": "NP_647593.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 593,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": "ENST00000316724.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1439C>T",
"hgvs_p": "p.Thr480Met",
"transcript": "ENST00000316724.10",
"protein_id": "ENSP00000316779.5",
"transcript_support_level": 1,
"aa_start": 480,
"aa_end": null,
"aa_length": 593,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": "NM_139343.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1310C>T",
"hgvs_p": "p.Thr437Met",
"transcript": "ENST00000357970.7",
"protein_id": "ENSP00000350654.3",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 550,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 2497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1214C>T",
"hgvs_p": "p.Thr405Met",
"transcript": "ENST00000346226.7",
"protein_id": "ENSP00000315411.3",
"transcript_support_level": 1,
"aa_start": 405,
"aa_end": null,
"aa_length": 518,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1178C>T",
"hgvs_p": "p.Thr393Met",
"transcript": "ENST00000351659.7",
"protein_id": "ENSP00000315388.3",
"transcript_support_level": 1,
"aa_start": 393,
"aa_end": null,
"aa_length": 506,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Thr384Met",
"transcript": "ENST00000259238.8",
"protein_id": "ENSP00000259238.4",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 497,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1106C>T",
"hgvs_p": "p.Thr369Met",
"transcript": "ENST00000393040.7",
"protein_id": "ENSP00000376760.3",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 482,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1085C>T",
"hgvs_p": "p.Thr362Met",
"transcript": "ENST00000393041.7",
"protein_id": "ENSP00000376761.3",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 475,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1022C>T",
"hgvs_p": "p.Thr341Met",
"transcript": "ENST00000352848.8",
"protein_id": "ENSP00000315284.4",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 454,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 2070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Thr326Met",
"transcript": "ENST00000409400.1",
"protein_id": "ENSP00000386797.1",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 439,
"cds_start": 977,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.955-264C>T",
"hgvs_p": null,
"transcript": "ENST00000376113.6",
"protein_id": "ENSP00000365281.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": -4,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.910-264C>T",
"hgvs_p": null,
"transcript": "ENST00000348750.8",
"protein_id": "ENSP00000259237.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": -4,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Thr453Met",
"transcript": "NM_001320642.1",
"protein_id": "NP_001307571.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 566,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 2317,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1346C>T",
"hgvs_p": "p.Thr449Met",
"transcript": "NM_001320641.2",
"protein_id": "NP_001307570.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 562,
"cds_start": 1346,
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"cdna_start": 1557,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1310C>T",
"hgvs_p": "p.Thr437Met",
"transcript": "NM_139344.3",
"protein_id": "NP_647594.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 550,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1214C>T",
"hgvs_p": "p.Thr405Met",
"transcript": "NM_139347.3",
"protein_id": "NP_647597.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 518,
"cds_start": 1214,
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"cdna_start": 1425,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1199C>T",
"hgvs_p": "p.Thr400Met",
"transcript": "NM_001320640.2",
"protein_id": "NP_001307569.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 513,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1178C>T",
"hgvs_p": "p.Thr393Met",
"transcript": "NM_139345.3",
"protein_id": "NP_647595.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 506,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Thr384Met",
"transcript": "NM_139346.3",
"protein_id": "NP_647596.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 497,
"cds_start": 1151,
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"cdna_start": 1362,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1106C>T",
"hgvs_p": "p.Thr369Met",
"transcript": "NM_139348.3",
"protein_id": "NP_647598.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 482,
"cds_start": 1106,
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"cdna_start": 1317,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1085C>T",
"hgvs_p": "p.Thr362Met",
"transcript": "NM_139349.3",
"protein_id": "NP_647599.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 475,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Thr357Met",
"transcript": "NM_001320633.2",
"protein_id": "NP_001307562.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 470,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIN1",
"gene_hgnc_id": 1052,
"hgvs_c": "c.1022C>T",
"hgvs_p": "p.Thr341Met",
"transcript": "NM_004305.4",
"protein_id": "NP_004296.1",
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],
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"dbsnp": "rs780918654",
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"hom_count_reference_population": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.13699215650558472,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.996,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -3,
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"criteria": [
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"BS1_Supporting"
],
"verdict": "Likely_benign",
"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,Inborn genetic diseases,Myopathy,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Myopathy, centronuclear, 2|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}