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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: 13-23337698-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=23337698&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 23337698,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000382292.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6178G>C",
"hgvs_p": "p.Val2060Leu",
"transcript": "NM_014363.6",
"protein_id": "NP_055178.3",
"transcript_support_level": null,
"aa_start": 2060,
"aa_end": null,
"aa_length": 4579,
"cds_start": 6178,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 6767,
"cdna_end": null,
"cdna_length": 15635,
"mane_select": "ENST00000382292.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6178G>C",
"hgvs_p": "p.Val2060Leu",
"transcript": "ENST00000382292.9",
"protein_id": "ENSP00000371729.3",
"transcript_support_level": 5,
"aa_start": 2060,
"aa_end": null,
"aa_length": 4579,
"cds_start": 6178,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 6767,
"cdna_end": null,
"cdna_length": 15635,
"mane_select": "NM_014363.6",
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2431+3747G>C",
"hgvs_p": null,
"transcript": "ENST00000455470.6",
"protein_id": "ENSP00000406565.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 832,
"cds_start": -4,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6205G>C",
"hgvs_p": "p.Val2069Leu",
"transcript": "NM_001437336.1",
"protein_id": "NP_001424265.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 4588,
"cds_start": 6205,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 6794,
"cdna_end": null,
"cdna_length": 15662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6205G>C",
"hgvs_p": "p.Val2069Leu",
"transcript": "ENST00000682944.1",
"protein_id": "ENSP00000507173.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 4588,
"cds_start": 6205,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 6844,
"cdna_end": null,
"cdna_length": 15712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.5737G>C",
"hgvs_p": "p.Val1913Leu",
"transcript": "NM_001278055.2",
"protein_id": "NP_001264984.1",
"transcript_support_level": null,
"aa_start": 1913,
"aa_end": null,
"aa_length": 4432,
"cds_start": 5737,
"cds_end": null,
"cds_length": 13299,
"cdna_start": 6227,
"cdna_end": null,
"cdna_length": 15095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.3928G>C",
"hgvs_p": "p.Val1310Leu",
"transcript": "ENST00000402364.1",
"protein_id": "ENSP00000385844.1",
"transcript_support_level": 2,
"aa_start": 1310,
"aa_end": null,
"aa_length": 3829,
"cds_start": 3928,
"cds_end": null,
"cds_length": 11490,
"cdna_start": 6262,
"cdna_end": null,
"cdna_length": 15134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6169G>C",
"hgvs_p": "p.Val2057Leu",
"transcript": "ENST00000683270.1",
"protein_id": "ENSP00000507624.1",
"transcript_support_level": null,
"aa_start": 2057,
"aa_end": null,
"aa_length": 2170,
"cds_start": 6169,
"cds_end": null,
"cds_length": 6513,
"cdna_start": 6298,
"cdna_end": null,
"cdna_length": 7009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6229G>C",
"hgvs_p": "p.Val2077Leu",
"transcript": "XM_047430254.1",
"protein_id": "XP_047286210.1",
"transcript_support_level": null,
"aa_start": 2077,
"aa_end": null,
"aa_length": 4596,
"cds_start": 6229,
"cds_end": null,
"cds_length": 13791,
"cdna_start": 6266,
"cdna_end": null,
"cdna_length": 15134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6205G>C",
"hgvs_p": "p.Val2069Leu",
"transcript": "XM_024449337.2",
"protein_id": "XP_024305105.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 4588,
"cds_start": 6205,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 7015,
"cdna_end": null,
"cdna_length": 15883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6202G>C",
"hgvs_p": "p.Val2068Leu",
"transcript": "XM_047430255.1",
"protein_id": "XP_047286211.1",
"transcript_support_level": null,
"aa_start": 2068,
"aa_end": null,
"aa_length": 4587,
"cds_start": 6202,
"cds_end": null,
"cds_length": 13764,
"cdna_start": 6239,
"cdna_end": null,
"cdna_length": 15107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6196G>C",
"hgvs_p": "p.Val2066Leu",
"transcript": "XM_011535039.3",
"protein_id": "XP_011533341.1",
"transcript_support_level": null,
"aa_start": 2066,
"aa_end": null,
"aa_length": 4585,
"cds_start": 6196,
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"cds_length": 13758,
"cdna_start": 6342,
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"cdna_length": 15210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6178G>C",
"hgvs_p": "p.Val2060Leu",
"transcript": "XM_047430256.1",
"protein_id": "XP_047286212.1",
"transcript_support_level": null,
"aa_start": 2060,
"aa_end": null,
"aa_length": 4579,
"cds_start": 6178,
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"cdna_start": 6988,
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"cdna_length": 15856,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6169G>C",
"hgvs_p": "p.Val2057Leu",
"transcript": "XM_017020539.2",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6058G>C",
"hgvs_p": "p.Val2020Leu",
"transcript": "XM_047430257.1",
"protein_id": "XP_047286213.1",
"transcript_support_level": null,
"aa_start": 2020,
"aa_end": null,
"aa_length": 4539,
"cds_start": 6058,
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"cdna_start": 6647,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6058G>C",
"hgvs_p": "p.Val2020Leu",
"transcript": "XM_047430258.1",
"protein_id": "XP_047286214.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6055G>C",
"hgvs_p": "p.Val2019Leu",
"transcript": "XM_047430259.1",
"protein_id": "XP_047286215.1",
"transcript_support_level": null,
"aa_start": 2019,
"aa_end": null,
"aa_length": 4538,
"cds_start": 6055,
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"cds_length": 13617,
"cdna_start": 6092,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6049G>C",
"hgvs_p": "p.Val2017Leu",
"transcript": "XM_047430260.1",
"protein_id": "XP_047286216.1",
"transcript_support_level": null,
"aa_start": 2017,
"aa_end": null,
"aa_length": 4536,
"cds_start": 6049,
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"cdna_start": 6195,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 9,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6031G>C",
"hgvs_p": "p.Val2011Leu",
"transcript": "XM_047430261.1",
"protein_id": "XP_047286217.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6031G>C",
"hgvs_p": "p.Val2011Leu",
"transcript": "XM_047430262.1",
"protein_id": "XP_047286218.1",
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"aa_start": 2011,
"aa_end": null,
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},
{
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"consequences": [
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],
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"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.6022G>C",
"hgvs_p": "p.Val2008Leu",
"transcript": "XM_047430263.1",
"protein_id": "XP_047286219.1",
"transcript_support_level": null,
"aa_start": 2008,
"aa_end": null,
"aa_length": 4527,
"cds_start": 6022,
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"cdna_start": 6168,
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"mane_select": null,
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"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.2221-8214G>C",
"hgvs_p": null,
"transcript": "ENST00000684385.1",
"protein_id": "ENSP00000507855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 830,
"cds_start": -4,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
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"cdna_length": 3321,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
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],
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Charlevoix-Saguenay spastic ataxia,Inborn genetic diseases,Spastic paraplegia,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 B:1",
"phenotype_combined": "not provided|Inborn genetic diseases|Charlevoix-Saguenay spastic ataxia|Spastic paraplegia",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}