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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: 2-166002474-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=166002474&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 166002474,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000674923.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.4282G>T",
"hgvs_p": "p.Val1428Phe",
"transcript": "NM_001165963.4",
"protein_id": "NP_001159435.1",
"transcript_support_level": null,
"aa_start": 1428,
"aa_end": null,
"aa_length": 2009,
"cds_start": 4282,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 4760,
"cdna_end": null,
"cdna_length": 11940,
"mane_select": "ENST00000674923.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.4282G>T",
"hgvs_p": "p.Val1428Phe",
"transcript": "ENST00000674923.1",
"protein_id": "ENSP00000501589.1",
"transcript_support_level": null,
"aa_start": 1428,
"aa_end": null,
"aa_length": 2009,
"cds_start": 4282,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 4760,
"cdna_end": null,
"cdna_length": 11940,
"mane_select": "NM_001165963.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.4282G>T",
"hgvs_p": "p.Val1428Phe",
"transcript": "ENST00000303395.9",
"protein_id": "ENSP00000303540.4",
"transcript_support_level": 5,
"aa_start": 1428,
"aa_end": null,
"aa_length": 2009,
"cds_start": 4282,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 4673,
"cdna_end": null,
"cdna_length": 11853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.4249G>T",
"hgvs_p": "p.Val1417Phe",
"transcript": "ENST00000375405.7",
"protein_id": "ENSP00000364554.3",
"transcript_support_level": 5,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1998,
"cds_start": 4249,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 4267,
"cdna_end": null,
"cdna_length": 8097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.4198G>T",
"hgvs_p": "p.Val1400Phe",
"transcript": "ENST00000409050.2",
"protein_id": "ENSP00000386312.1",
"transcript_support_level": 5,
"aa_start": 1400,
"aa_end": null,
"aa_length": 1981,
"cds_start": 4198,
"cds_end": null,
"cds_length": 5946,
"cdna_start": 4483,
"cdna_end": null,
"cdna_length": 7376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.4282G>T",
"hgvs_p": "p.Val1428Phe",
"transcript": "NM_001202435.3",
"protein_id": "NP_001189364.1",
"transcript_support_level": null,
"aa_start": 1428,
"aa_end": null,
"aa_length": 2009,
"cds_start": 4282,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 4538,
"cdna_end": null,
"cdna_length": 12890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.4282G>T",
"hgvs_p": "p.Val1428Phe",
"transcript": "NM_001353948.2",
"protein_id": "NP_001340877.1",
"transcript_support_level": null,
"aa_start": 1428,
"aa_end": null,
"aa_length": 2009,
"cds_start": 4282,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 4581,
"cdna_end": null,
"cdna_length": 12933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.4249G>T",
"hgvs_p": "p.Val1417Phe",
"transcript": "NM_001353949.2",
"protein_id": "NP_001340878.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1998,
"cds_start": 4249,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 4413,
"cdna_end": null,
"cdna_length": 12765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.4249G>T",
"hgvs_p": "p.Val1417Phe",
"transcript": "NM_001353950.2",
"protein_id": "NP_001340879.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1998,
"cds_start": 4249,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 4505,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.4249G>T",
"hgvs_p": "p.Val1417Phe",
"transcript": "NM_001353951.2",
"protein_id": "NP_001340880.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1998,
"cds_start": 4249,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 4548,
"cdna_end": null,
"cdna_length": 12900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.4249G>T",
"hgvs_p": "p.Val1417Phe",
"transcript": "NM_001353952.2",
"protein_id": "NP_001340881.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1998,
"cds_start": 4249,
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"cdna_start": 4640,
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
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"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.4249G>T",
"hgvs_p": "p.Val1417Phe",
"transcript": "NM_006920.6",
"protein_id": "NP_008851.3",
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"aa_start": 1417,
"aa_end": null,
"aa_length": 1998,
"cds_start": 4249,
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"cdna_start": 4727,
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"mane_select": null,
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"biotype": null,
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},
{
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"strand": false,
"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "SCN1A",
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"hgvs_c": "c.4249G>T",
"hgvs_p": "p.Val1417Phe",
"transcript": "ENST00000635750.1",
"protein_id": "ENSP00000490799.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "SCN1A",
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"hgvs_c": "c.4249G>T",
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"transcript": "ENST00000637988.1",
"protein_id": "ENSP00000490780.1",
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"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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"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.4249G>T",
"hgvs_p": "p.Val1417Phe",
"transcript": "ENST00000640036.1",
"protein_id": "ENSP00000491573.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.4246G>T",
"hgvs_p": "p.Val1416Phe",
"transcript": "NM_001353954.2",
"protein_id": "NP_001340883.1",
"transcript_support_level": null,
"aa_start": 1416,
"aa_end": null,
"aa_length": 1997,
"cds_start": 4246,
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"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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"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.4246G>T",
"hgvs_p": "p.Val1416Phe",
"transcript": "NM_001353955.2",
"protein_id": "NP_001340884.1",
"transcript_support_level": null,
"aa_start": 1416,
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"aa_length": 1997,
"cds_start": 4246,
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"cdna_start": 4545,
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"cdna_length": 12897,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": 23,
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"intron_rank": null,
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"gene_symbol": "SCN1A",
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"transcript": "ENST00000641575.1",
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},
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],
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"intron_rank": null,
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"gene_symbol": "SCN1A",
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"transcript": "NM_001165964.3",
"protein_id": "NP_001159436.1",
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"aa_end": null,
"aa_length": 1981,
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"feature": null
},
{
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"splice_region_variant"
],
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"intron_rank": null,
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"gene_symbol": "SCN1A",
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"transcript": "NM_001353957.2",
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.4198G>T",
"hgvs_p": "p.Val1400Phe",
"transcript": "NM_001353958.2",
"protein_id": "NP_001340887.1",
"transcript_support_level": null,
"aa_start": 1400,
"aa_end": null,
"aa_length": 1981,
"cds_start": 4198,
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"cdna_start": 4454,
"cdna_end": null,
"cdna_length": 12806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.4195G>T",
"hgvs_p": "p.Val1399Phe",
"transcript": "NM_001353960.2",
"protein_id": "NP_001340889.1",
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],
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"computational_score_selected": 0.9466843605041504,
"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"dbscsnv_ada_prediction": "Pathogenic",
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"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
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"PM2",
"PM5",
"PP2",
"PP3",
"PP5_Moderate"
],
"verdict": "Pathogenic",
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{
"score": 5,
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"PP5_Moderate"
],
"verdict": "Uncertain_significance",
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{
"score": 5,
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"PP5_Moderate"
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Developmental and epileptic encephalopathy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Developmental and epileptic encephalopathy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}