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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: 12-56282971-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56282971&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56282971,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_004077.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.288T>C",
"hgvs_p": "p.Phe96Phe",
"transcript": "NM_004077.3",
"protein_id": "NP_004068.2",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 466,
"cds_start": 288,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000351328.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004077.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.288T>C",
"hgvs_p": "p.Phe96Phe",
"transcript": "ENST00000351328.8",
"protein_id": "ENSP00000342056.3",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 466,
"cds_start": 288,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004077.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351328.8"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.90T>C",
"hgvs_p": "p.Phe30Phe",
"transcript": "ENST00000548567.5",
"protein_id": "ENSP00000446779.1",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 400,
"cds_start": 90,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548567.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.288T>C",
"hgvs_p": "p.Phe96Phe",
"transcript": "ENST00000904225.1",
"protein_id": "ENSP00000574284.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 454,
"cds_start": 288,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904225.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Phe83Phe",
"transcript": "ENST00000542324.6",
"protein_id": "ENSP00000440543.2",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 453,
"cds_start": 249,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542324.6"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.288T>C",
"hgvs_p": "p.Phe96Phe",
"transcript": "ENST00000921536.1",
"protein_id": "ENSP00000591595.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 432,
"cds_start": 288,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921536.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.180T>C",
"hgvs_p": "p.Phe60Phe",
"transcript": "ENST00000947273.1",
"protein_id": "ENSP00000617332.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 430,
"cds_start": 180,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947273.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.129T>C",
"hgvs_p": "p.Phe43Phe",
"transcript": "ENST00000904224.1",
"protein_id": "ENSP00000574283.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 413,
"cds_start": 129,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904224.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.288T>C",
"hgvs_p": "p.Phe96Phe",
"transcript": "ENST00000947272.1",
"protein_id": "ENSP00000617331.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 403,
"cds_start": 288,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947272.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.288T>C",
"hgvs_p": "p.Phe96Phe",
"transcript": "ENST00000550655.5",
"protein_id": "ENSP00000448172.1",
"transcript_support_level": 2,
"aa_start": 96,
"aa_end": null,
"aa_length": 177,
"cds_start": 288,
"cds_end": null,
"cds_length": 536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550655.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.180T>C",
"hgvs_p": "p.Phe60Phe",
"transcript": "ENST00000552688.5",
"protein_id": "ENSP00000447442.1",
"transcript_support_level": 4,
"aa_start": 60,
"aa_end": null,
"aa_length": 156,
"cds_start": 180,
"cds_end": null,
"cds_length": 473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552688.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.288T>C",
"hgvs_p": "p.Phe96Phe",
"transcript": "ENST00000548041.5",
"protein_id": "ENSP00000447986.1",
"transcript_support_level": 4,
"aa_start": 96,
"aa_end": null,
"aa_length": 148,
"cds_start": 288,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548041.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.90T>C",
"hgvs_p": "p.Phe30Phe",
"transcript": "ENST00000550734.5",
"protein_id": "ENSP00000449025.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 143,
"cds_start": 90,
"cds_end": null,
"cds_length": 434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550734.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.90T>C",
"hgvs_p": "p.Phe30Phe",
"transcript": "ENST00000551936.5",
"protein_id": "ENSP00000450312.1",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 143,
"cds_start": 90,
"cds_end": null,
"cds_length": 434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551936.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.90T>C",
"hgvs_p": "p.Phe30Phe",
"transcript": "ENST00000551253.5",
"protein_id": "ENSP00000450101.1",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 139,
"cds_start": 90,
"cds_end": null,
"cds_length": 422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551253.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.63T>C",
"hgvs_p": "p.Phe21Phe",
"transcript": "ENST00000549221.5",
"protein_id": "ENSP00000448667.1",
"transcript_support_level": 4,
"aa_start": 21,
"aa_end": null,
"aa_length": 139,
"cds_start": 63,
"cds_end": null,
"cds_length": 421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549221.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.90T>C",
"hgvs_p": "p.Phe30Phe",
"transcript": "ENST00000551473.5",
"protein_id": "ENSP00000449427.1",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 119,
"cds_start": 90,
"cds_end": null,
"cds_length": 362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551473.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.90T>C",
"hgvs_p": "p.Phe30Phe",
"transcript": "ENST00000547298.5",
"protein_id": "ENSP00000448409.1",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 116,
"cds_start": 90,
"cds_end": null,
"cds_length": 353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547298.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.90T>C",
"hgvs_p": "p.Phe30Phe",
"transcript": "ENST00000551137.5",
"protein_id": "ENSP00000449753.1",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 113,
"cds_start": 90,
"cds_end": null,
"cds_length": 344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551137.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.90T>C",
"hgvs_p": "p.Phe30Phe",
"transcript": "ENST00000550159.5",
"protein_id": "ENSP00000447346.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 79,
"cds_start": 90,
"cds_end": null,
"cds_length": 242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550159.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.90T>C",
"hgvs_p": "p.Phe30Phe",
"transcript": "ENST00000551430.6",
"protein_id": "ENSP00000448166.2",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 65,
"cds_start": 90,
"cds_end": null,
"cds_length": 200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551430.6"
},
{
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.267+821T>C",
"hgvs_p": null,
"transcript": "ENST00000921535.1",
"protein_id": "ENSP00000591594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921535.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"gene_symbol": "CS",
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"computational_score_selected": -0.5199999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.03,
"phylop100way_prediction": "Benign",
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"acmg_score": -17,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004077.3",
"gene_symbol": "CS",
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"effects": [
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"inheritance_mode": "AD",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}