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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: 2-166038073-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=166038073&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 166038073,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000674923.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2649C>T",
"hgvs_p": "p.Ile883Ile",
"transcript": "NM_001165963.4",
"protein_id": "NP_001159435.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 2009,
"cds_start": 2649,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 3127,
"cdna_end": null,
"cdna_length": 11940,
"mane_select": "ENST00000674923.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2649C>T",
"hgvs_p": "p.Ile883Ile",
"transcript": "ENST00000674923.1",
"protein_id": "ENSP00000501589.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 2009,
"cds_start": 2649,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 3127,
"cdna_end": null,
"cdna_length": 11940,
"mane_select": "NM_001165963.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2649C>T",
"hgvs_p": "p.Ile883Ile",
"transcript": "ENST00000303395.9",
"protein_id": "ENSP00000303540.4",
"transcript_support_level": 5,
"aa_start": 883,
"aa_end": null,
"aa_length": 2009,
"cds_start": 2649,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 3040,
"cdna_end": null,
"cdna_length": 11853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2616C>T",
"hgvs_p": "p.Ile872Ile",
"transcript": "ENST00000375405.7",
"protein_id": "ENSP00000364554.3",
"transcript_support_level": 5,
"aa_start": 872,
"aa_end": null,
"aa_length": 1998,
"cds_start": 2616,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 2634,
"cdna_end": null,
"cdna_length": 8097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2565C>T",
"hgvs_p": "p.Ile855Ile",
"transcript": "ENST00000409050.2",
"protein_id": "ENSP00000386312.1",
"transcript_support_level": 5,
"aa_start": 855,
"aa_end": null,
"aa_length": 1981,
"cds_start": 2565,
"cds_end": null,
"cds_length": 5946,
"cdna_start": 2850,
"cdna_end": null,
"cdna_length": 7376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2649C>T",
"hgvs_p": "p.Ile883Ile",
"transcript": "NM_001202435.3",
"protein_id": "NP_001189364.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 2009,
"cds_start": 2649,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 2905,
"cdna_end": null,
"cdna_length": 12890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2649C>T",
"hgvs_p": "p.Ile883Ile",
"transcript": "NM_001353948.2",
"protein_id": "NP_001340877.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 2009,
"cds_start": 2649,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 2948,
"cdna_end": null,
"cdna_length": 12933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2616C>T",
"hgvs_p": "p.Ile872Ile",
"transcript": "NM_001353949.2",
"protein_id": "NP_001340878.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1998,
"cds_start": 2616,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 2780,
"cdna_end": null,
"cdna_length": 12765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2616C>T",
"hgvs_p": "p.Ile872Ile",
"transcript": "NM_001353950.2",
"protein_id": "NP_001340879.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1998,
"cds_start": 2616,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 2872,
"cdna_end": null,
"cdna_length": 12857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2616C>T",
"hgvs_p": "p.Ile872Ile",
"transcript": "NM_001353951.2",
"protein_id": "NP_001340880.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1998,
"cds_start": 2616,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 2915,
"cdna_end": null,
"cdna_length": 12900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2616C>T",
"hgvs_p": "p.Ile872Ile",
"transcript": "NM_001353952.2",
"protein_id": "NP_001340881.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1998,
"cds_start": 2616,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 3007,
"cdna_end": null,
"cdna_length": 12992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2616C>T",
"hgvs_p": "p.Ile872Ile",
"transcript": "NM_006920.6",
"protein_id": "NP_008851.3",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1998,
"cds_start": 2616,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 3094,
"cdna_end": null,
"cdna_length": 13079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2616C>T",
"hgvs_p": "p.Ile872Ile",
"transcript": "ENST00000635750.1",
"protein_id": "ENSP00000490799.1",
"transcript_support_level": 5,
"aa_start": 872,
"aa_end": null,
"aa_length": 1998,
"cds_start": 2616,
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"cdna_start": 2833,
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"cdna_length": 8299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2616C>T",
"hgvs_p": "p.Ile872Ile",
"transcript": "ENST00000637988.1",
"protein_id": "ENSP00000490780.1",
"transcript_support_level": 5,
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"cdna_start": 3096,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2616C>T",
"hgvs_p": "p.Ile872Ile",
"transcript": "ENST00000640036.1",
"protein_id": "ENSP00000491573.1",
"transcript_support_level": 5,
"aa_start": 872,
"aa_end": null,
"aa_length": 1998,
"cds_start": 2616,
"cds_end": null,
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"cdna_start": 2665,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2613C>T",
"hgvs_p": "p.Ile871Ile",
"transcript": "NM_001353954.2",
"protein_id": "NP_001340883.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1997,
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"cdna_start": 3004,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2613C>T",
"hgvs_p": "p.Ile871Ile",
"transcript": "NM_001353955.2",
"protein_id": "NP_001340884.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1997,
"cds_start": 2613,
"cds_end": null,
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"cdna_start": 2912,
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"cdna_length": 12897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2613C>T",
"hgvs_p": "p.Ile871Ile",
"transcript": "ENST00000641575.1",
"protein_id": "ENSP00000492917.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1997,
"cds_start": 2613,
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"cdna_start": 2889,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2565C>T",
"hgvs_p": "p.Ile855Ile",
"transcript": "NM_001165964.3",
"protein_id": "NP_001159436.1",
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"aa_end": null,
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"feature": null
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2565C>T",
"hgvs_p": "p.Ile855Ile",
"transcript": "NM_001353957.2",
"protein_id": "NP_001340886.1",
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"aa_start": 855,
"aa_end": null,
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},
{
"aa_ref": "I",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 17,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2565C>T",
"hgvs_p": "p.Ile855Ile",
"transcript": "NM_001353958.2",
"protein_id": "NP_001340887.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1981,
"cds_start": 2565,
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"cdna_start": 2821,
"cdna_end": null,
"cdna_length": 12806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.2562C>T",
"hgvs_p": "p.Ile854Ile",
"transcript": "NM_001353960.2",
"protein_id": "NP_001340889.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1980,
"cds_start": 2562,
"cds_end": null,
"cds_length": 5943,
"cdna_start": 2953,
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"cdna_length": 12938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
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"computational_source_selected": "BayesDel_noAF",
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"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
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"acmg_score": -10,
"acmg_classification": "Benign",
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{
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"pathogenic_score": 0,
"criteria": [
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"BP6",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000674923.1",
"gene_symbol": "SCN1A",
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"inheritance_mode": "AD,Unknown",
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"hgvs_p": "p.Ile883Ile"
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{
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"criteria": [
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"verdict": "Benign",
"transcript": "ENST00000651562.1",
"gene_symbol": "SCN1A-AS1",
"hgnc_id": 54069,
"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": " 3, familial hemiplegic, type 2,Developmental and epileptic encephalopathy,Generalized epilepsy with febrile seizures plus,Inborn genetic diseases,Migraine,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:6",
"phenotype_combined": "not specified|Migraine, familial hemiplegic, 3|Generalized epilepsy with febrile seizures plus, type 2|Developmental and epileptic encephalopathy|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}