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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: 1-150076261-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150076261&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150076261,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000644510.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.318C>G",
"hgvs_p": "p.Asp106Glu",
"transcript": "NM_007259.5",
"protein_id": "NP_009190.2",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 570,
"cds_start": 318,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": "ENST00000644510.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.318C>G",
"hgvs_p": "p.Asp106Glu",
"transcript": "ENST00000644510.2",
"protein_id": "ENSP00000495563.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 570,
"cds_start": 318,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": "NM_007259.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.318C>G",
"hgvs_p": "p.Asp106Glu",
"transcript": "ENST00000698584.1",
"protein_id": "ENSP00000513813.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 651,
"cds_start": 318,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.318C>G",
"hgvs_p": "p.Asp106Glu",
"transcript": "ENST00000644526.2",
"protein_id": "ENSP00000494363.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 643,
"cds_start": 318,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.318C>G",
"hgvs_p": "p.Asp106Glu",
"transcript": "ENST00000698580.1",
"protein_id": "ENSP00000513809.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 595,
"cds_start": 318,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.318C>G",
"hgvs_p": "p.Asp106Glu",
"transcript": "ENST00000698582.1",
"protein_id": "ENSP00000513811.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 582,
"cds_start": 318,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.354C>G",
"hgvs_p": "p.Asp118Glu",
"transcript": "ENST00000698587.1",
"protein_id": "ENSP00000513816.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 582,
"cds_start": 354,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.318C>G",
"hgvs_p": "p.Asp106Glu",
"transcript": "ENST00000698598.1",
"protein_id": "ENSP00000513825.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 582,
"cds_start": 318,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.315C>G",
"hgvs_p": "p.Asp105Glu",
"transcript": "ENST00000698590.1",
"protein_id": "ENSP00000513818.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 569,
"cds_start": 315,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.318C>G",
"hgvs_p": "p.Asp106Glu",
"transcript": "ENST00000698581.1",
"protein_id": "ENSP00000513810.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 548,
"cds_start": 318,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.318C>G",
"hgvs_p": "p.Asp106Glu",
"transcript": "ENST00000698532.1",
"protein_id": "ENSP00000513778.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 547,
"cds_start": 318,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.318C>G",
"hgvs_p": "p.Asp106Glu",
"transcript": "ENST00000419023.4",
"protein_id": "ENSP00000400143.3",
"transcript_support_level": 3,
"aa_start": 106,
"aa_end": null,
"aa_length": 546,
"cds_start": 318,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.318C>G",
"hgvs_p": "p.Asp106Glu",
"transcript": "ENST00000698578.1",
"protein_id": "ENSP00000513807.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 542,
"cds_start": 318,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.210C>G",
"hgvs_p": "p.Asp70Glu",
"transcript": "NM_001279353.2",
"protein_id": "NP_001266282.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 538,
"cds_start": 210,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.210C>G",
"hgvs_p": "p.Asp70Glu",
"transcript": "ENST00000369128.9",
"protein_id": "ENSP00000358124.5",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
"aa_length": 538,
"cds_start": 210,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.318C>G",
"hgvs_p": "p.Asp106Glu",
"transcript": "ENST00000698597.1",
"protein_id": "ENSP00000513824.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 538,
"cds_start": 318,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 2189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.210C>G",
"hgvs_p": "p.Asp70Glu",
"transcript": "NM_001279354.2",
"protein_id": "NP_001266283.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 534,
"cds_start": 210,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 2348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.210C>G",
"hgvs_p": "p.Asp70Glu",
"transcript": "ENST00000643970.2",
"protein_id": "ENSP00000495148.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 534,
"cds_start": 210,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.318C>G",
"hgvs_p": "p.Asp106Glu",
"transcript": "ENST00000698528.1",
"protein_id": "ENSP00000513777.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 534,
"cds_start": 318,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.318C>G",
"hgvs_p": "p.Asp106Glu",
"transcript": "ENST00000698588.1",
"protein_id": "ENSP00000513817.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 533,
"cds_start": 318,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.183C>G",
"hgvs_p": "p.Asp61Glu",
"transcript": "ENST00000698533.1",
"protein_id": "ENSP00000513779.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 525,
"cds_start": 183,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.318C>G",
"hgvs_p": "p.Asp106Glu",
"transcript": "ENST00000698592.1",
"protein_id": "ENSP00000513820.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 525,
"cds_start": 318,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS45",
"gene_hgnc_id": 14579,
"hgvs_c": "c.318C>G",
"hgvs_p": "p.Asp106Glu",
"transcript": "ENST00000698534.1",
"protein_id": "ENSP00000513780.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 514,
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],
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.594,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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"gene_symbol": "VPS45",
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"effects": [
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"inheritance_mode": "AR",
"hgvs_c": "c.318C>G",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}