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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: 2-174581413-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=174581413&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 174581413,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000679041.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "NM_001375834.1",
"protein_id": "NP_001362763.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 503,
"cds_start": 78,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": "ENST00000679041.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "ENST00000679041.1",
"protein_id": "ENSP00000503603.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 503,
"cds_start": 78,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": "NM_001375834.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"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": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "ENST00000272746.9",
"protein_id": "ENSP00000272746.5",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 510,
"cds_start": 78,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "ENST00000359761.7",
"protein_id": "ENSP00000352802.3",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 503,
"cds_start": 78,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "ENST00000392547.6",
"protein_id": "ENSP00000376330.2",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 503,
"cds_start": 78,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 4587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "ENST00000409891.5",
"protein_id": "ENSP00000386431.1",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 493,
"cds_start": 78,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "ENST00000409415.7",
"protein_id": "ENSP00000387150.3",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 403,
"cds_start": 78,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.217+33936A>G",
"hgvs_p": null,
"transcript": "ENST00000442996.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"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": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "NM_001375835.1",
"protein_id": "NP_001362764.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 510,
"cds_start": 78,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 4238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "NM_001077269.1",
"protein_id": "NP_001070737.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 503,
"cds_start": 78,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "NM_001375832.1",
"protein_id": "NP_001362761.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 503,
"cds_start": 78,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "NM_001375833.1",
"protein_id": "NP_001362762.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 503,
"cds_start": 78,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 4751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "NM_003387.5",
"protein_id": "NP_003378.3",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 503,
"cds_start": 78,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 4611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "ENST00000392546.6",
"protein_id": "ENSP00000376329.2",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 503,
"cds_start": 78,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "ENST00000436221.2",
"protein_id": "ENSP00000388454.2",
"transcript_support_level": 3,
"aa_start": 26,
"aa_end": null,
"aa_length": 503,
"cds_start": 78,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 152,
"cdna_end": null,
"cdna_length": 4551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "ENST00000698668.1",
"protein_id": "ENSP00000513869.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 503,
"cds_start": 78,
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"cdna_start": 163,
"cdna_end": null,
"cdna_length": 4570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "ENST00000698701.1",
"protein_id": "ENSP00000513882.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 503,
"cds_start": 78,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 4628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "ENST00000698667.1",
"protein_id": "ENSP00000513868.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 432,
"cds_start": 78,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 4426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "NM_001375836.1",
"protein_id": "NP_001362765.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 403,
"cds_start": 78,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 256,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "NM_001375837.1",
"protein_id": "NP_001362766.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 403,
"cds_start": 78,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 1762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "NM_001375838.1",
"protein_id": "NP_001362767.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 403,
"cds_start": 78,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 177,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
"transcript": "NM_001375839.1",
"protein_id": "NP_001362768.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 377,
"cds_start": 78,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"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": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn",
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"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.845,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000679041.1",
"gene_symbol": "WIPF1",
"hgnc_id": 12736,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.78T>C",
"hgvs_p": "p.Asn26Asn"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000442996.1",
"gene_symbol": "ENSG00000236449",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.217+33936A>G",
"hgvs_p": null
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000454203.1",
"gene_symbol": "ENSG00000237798",
"hgnc_id": 40613,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.203+5984A>G",
"hgvs_p": null
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NR_199010.1",
"gene_symbol": "WIPF1-AS1",
"hgnc_id": 40613,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.203+5984A>G",
"hgvs_p": null
}
],
"clinvar_disease": "WIPF1-related disorder,Wiskott-Aldrich syndrome 2",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Wiskott-Aldrich syndrome 2|WIPF1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}