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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: 2-165994384-TAC-AAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=165994384&ref=TAC&alt=AAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SCN1A",
"hgnc_id": 10585,
"hgvs_c": "c.4612_4614delGTAinsATT",
"hgvs_p": "p.Val1538Ile",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001165963.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "SCN1A-AS1",
"hgnc_id": 54069,
"hgvs_c": "n.202-21229_202-21227delTACinsAAT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000597623.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC102724058",
"hgnc_id": null,
"hgvs_c": "n.176-21229_176-21227delTACinsAAT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NR_110598.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP2",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AAT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2009,
"aa_ref": "V",
"aa_start": 1538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11940,
"cdna_start": 5092,
"cds_end": null,
"cds_length": 6030,
"cds_start": 4612,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001165963.4",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4612_4614delGTAinsATT",
"hgvs_p": "p.Val1538Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000674923.1",
"protein_coding": true,
"protein_id": "NP_001159435.1",
"strand": false,
"transcript": "NM_001165963.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2009,
"aa_ref": "V",
"aa_start": 1538,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11940,
"cdna_start": 5092,
"cds_end": null,
"cds_length": 6030,
"cds_start": 4612,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674923.1",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4612_4614delGTAinsATT",
"hgvs_p": "p.Val1538Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001165963.4",
"protein_coding": true,
"protein_id": "ENSP00000501589.1",
"strand": false,
"transcript": "ENST00000674923.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2009,
"aa_ref": "V",
"aa_start": 1538,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11853,
"cdna_start": 5005,
"cds_end": null,
"cds_length": 6030,
"cds_start": 4612,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000303395.9",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4612_4614delGTAinsATT",
"hgvs_p": "p.Val1538Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000303540.4",
"strand": false,
"transcript": "ENST00000303395.9",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1998,
"aa_ref": "V",
"aa_start": 1527,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8097,
"cdna_start": 4599,
"cds_end": null,
"cds_length": 5997,
"cds_start": 4579,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000375405.7",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4579_4581delGTAinsATT",
"hgvs_p": "p.Val1527Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364554.3",
"strand": false,
"transcript": "ENST00000375405.7",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1981,
"aa_ref": "V",
"aa_start": 1510,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7376,
"cdna_start": 4815,
"cds_end": null,
"cds_length": 5946,
"cds_start": 4528,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409050.2",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4528_4530delGTAinsATT",
"hgvs_p": "p.Val1510Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386312.1",
"strand": false,
"transcript": "ENST00000409050.2",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2009,
"aa_ref": "V",
"aa_start": 1538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12890,
"cdna_start": 4870,
"cds_end": null,
"cds_length": 6030,
"cds_start": 4612,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001202435.3",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4612_4614delGTAinsATT",
"hgvs_p": "p.Val1538Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001189364.1",
"strand": false,
"transcript": "NM_001202435.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2009,
"aa_ref": "V",
"aa_start": 1538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12933,
"cdna_start": 4913,
"cds_end": null,
"cds_length": 6030,
"cds_start": 4612,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353948.2",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4612_4614delGTAinsATT",
"hgvs_p": "p.Val1538Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340877.1",
"strand": false,
"transcript": "NM_001353948.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1998,
"aa_ref": "V",
"aa_start": 1527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12765,
"cdna_start": 4745,
"cds_end": null,
"cds_length": 5997,
"cds_start": 4579,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353949.2",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4579_4581delGTAinsATT",
"hgvs_p": "p.Val1527Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340878.1",
"strand": false,
"transcript": "NM_001353949.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1998,
"aa_ref": "V",
"aa_start": 1527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12857,
"cdna_start": 4837,
"cds_end": null,
"cds_length": 5997,
"cds_start": 4579,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353950.2",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4579_4581delGTAinsATT",
"hgvs_p": "p.Val1527Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340879.1",
"strand": false,
"transcript": "NM_001353950.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1998,
"aa_ref": "V",
"aa_start": 1527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12900,
"cdna_start": 4880,
"cds_end": null,
"cds_length": 5997,
"cds_start": 4579,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353951.2",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4579_4581delGTAinsATT",
"hgvs_p": "p.Val1527Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340880.1",
"strand": false,
"transcript": "NM_001353951.2",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 4972,
"cds_end": null,
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"cds_start": 4579,
"consequences": [
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],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353952.2",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4579_4581delGTAinsATT",
"hgvs_p": "p.Val1527Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340881.1",
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"transcript": "NM_001353952.2",
"transcript_support_level": null
},
{
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"cdna_start": 5059,
"cds_end": null,
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"consequences": [
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],
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"feature": "NM_006920.6",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4579_4581delGTAinsATT",
"hgvs_p": "p.Val1527Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_008851.3",
"strand": false,
"transcript": "NM_006920.6",
"transcript_support_level": null
},
{
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"aa_length": 1998,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8299,
"cdna_start": 4798,
"cds_end": null,
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"consequences": [
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],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000635750.1",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4579_4581delGTAinsATT",
"hgvs_p": "p.Val1527Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490799.1",
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"transcript": "ENST00000635750.1",
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},
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"cdna_start": 5061,
"cds_end": null,
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"consequences": [
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],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000637988.1",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4579_4581delGTAinsATT",
"hgvs_p": "p.Val1527Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490780.1",
"strand": false,
"transcript": "ENST00000637988.1",
"transcript_support_level": 5
},
{
"aa_alt": "I",
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"aa_length": 1998,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8131,
"cdna_start": 4630,
"cds_end": null,
"cds_length": 5997,
"cds_start": 4579,
"consequences": [
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],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000640036.1",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4579_4581delGTAinsATT",
"hgvs_p": "p.Val1527Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491573.1",
"strand": false,
"transcript": "ENST00000640036.1",
"transcript_support_level": 5
},
{
"aa_alt": "I",
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"aa_length": 1997,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 12989,
"cdna_start": 4969,
"cds_end": null,
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"cds_start": 4576,
"consequences": [
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],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353954.2",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4576_4578delGTAinsATT",
"hgvs_p": "p.Val1526Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001340883.1",
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"transcript": "NM_001353954.2",
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"consequences": [
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"exon_rank": null,
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"feature": "NM_001353955.2",
"gene_hgnc_id": 10585,
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"hgvs_c": "c.4576_4578delGTAinsATT",
"hgvs_p": "p.Val1526Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340884.1",
"strand": false,
"transcript": "NM_001353955.2",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 4854,
"cds_end": null,
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"consequences": [
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],
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"exon_rank": null,
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"feature": "ENST00000641575.1",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4576_4578delGTAinsATT",
"hgvs_p": "p.Val1526Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492917.1",
"strand": false,
"transcript": "ENST00000641575.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1981,
"aa_ref": "V",
"aa_start": 1510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12941,
"cdna_start": 4921,
"cds_end": null,
"cds_length": 5946,
"cds_start": 4528,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001165964.3",
"gene_hgnc_id": 10585,
"gene_symbol": "SCN1A",
"hgvs_c": "c.4528_4530delGTAinsATT",
"hgvs_p": "p.Val1510Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159436.1",
"strand": false,
"transcript": "NM_001165964.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1981,
"aa_ref": "V",
"aa_start": 1510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12849,
"cdna_start": 4829,
"cds_end": null,
"cds_length": 5946,
"cds_start": 4528,
"consequences": [
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],
"exon_count": 27,
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