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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: 11-108509882-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108509882&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 108509882,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_015065.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"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": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5625G>A",
"hgvs_p": "p.Arg1875Arg",
"transcript": "NM_015065.3",
"protein_id": "NP_055880.2",
"transcript_support_level": null,
"aa_start": 1875,
"aa_end": null,
"aa_length": 1989,
"cds_start": 5625,
"cds_end": null,
"cds_length": 5970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265843.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015065.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"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": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5625G>A",
"hgvs_p": "p.Arg1875Arg",
"transcript": "ENST00000265843.9",
"protein_id": "ENSP00000265843.4",
"transcript_support_level": 1,
"aa_start": 1875,
"aa_end": null,
"aa_length": 1989,
"cds_start": 5625,
"cds_end": null,
"cds_length": 5970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015065.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265843.9"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5604G>A",
"hgvs_p": "p.Arg1868Arg",
"transcript": "ENST00000525344.5",
"protein_id": "ENSP00000432546.1",
"transcript_support_level": 1,
"aa_start": 1868,
"aa_end": null,
"aa_length": 1982,
"cds_start": 5604,
"cds_end": null,
"cds_length": 5949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525344.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"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": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5622G>A",
"hgvs_p": "p.Arg1874Arg",
"transcript": "NM_001441059.1",
"protein_id": "NP_001427988.1",
"transcript_support_level": null,
"aa_start": 1874,
"aa_end": null,
"aa_length": 1988,
"cds_start": 5622,
"cds_end": null,
"cds_length": 5967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441059.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5604G>A",
"hgvs_p": "p.Arg1868Arg",
"transcript": "NM_001308019.2",
"protein_id": "NP_001294948.1",
"transcript_support_level": null,
"aa_start": 1868,
"aa_end": null,
"aa_length": 1982,
"cds_start": 5604,
"cds_end": null,
"cds_length": 5949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308019.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5601G>A",
"hgvs_p": "p.Arg1867Arg",
"transcript": "NM_001441060.1",
"protein_id": "NP_001427989.1",
"transcript_support_level": null,
"aa_start": 1867,
"aa_end": null,
"aa_length": 1981,
"cds_start": 5601,
"cds_end": null,
"cds_length": 5946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441060.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"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": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5397G>A",
"hgvs_p": "p.Arg1799Arg",
"transcript": "NM_001144763.2",
"protein_id": "NP_001138235.1",
"transcript_support_level": null,
"aa_start": 1799,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5397,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144763.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5397G>A",
"hgvs_p": "p.Arg1799Arg",
"transcript": "NM_001441061.1",
"protein_id": "NP_001427990.1",
"transcript_support_level": null,
"aa_start": 1799,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5397,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441061.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"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": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5397G>A",
"hgvs_p": "p.Arg1799Arg",
"transcript": "NM_001441067.1",
"protein_id": "NP_001427996.1",
"transcript_support_level": null,
"aa_start": 1799,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5397,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441067.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"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": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5397G>A",
"hgvs_p": "p.Arg1799Arg",
"transcript": "NM_001441068.1",
"protein_id": "NP_001427997.1",
"transcript_support_level": null,
"aa_start": 1799,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5397,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441068.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5397G>A",
"hgvs_p": "p.Arg1799Arg",
"transcript": "NM_001441069.1",
"protein_id": "NP_001427998.1",
"transcript_support_level": null,
"aa_start": 1799,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5397,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441069.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5397G>A",
"hgvs_p": "p.Arg1799Arg",
"transcript": "NM_001441070.1",
"protein_id": "NP_001427999.1",
"transcript_support_level": null,
"aa_start": 1799,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5397,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441070.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5397G>A",
"hgvs_p": "p.Arg1799Arg",
"transcript": "NM_001441071.1",
"protein_id": "NP_001428000.1",
"transcript_support_level": null,
"aa_start": 1799,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5397,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441071.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5397G>A",
"hgvs_p": "p.Arg1799Arg",
"transcript": "NM_001441072.1",
"protein_id": "NP_001428001.1",
"transcript_support_level": null,
"aa_start": 1799,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5397,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441072.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"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": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5394G>A",
"hgvs_p": "p.Arg1798Arg",
"transcript": "NM_001441073.1",
"protein_id": "NP_001428002.1",
"transcript_support_level": null,
"aa_start": 1798,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5394,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441073.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"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": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5394G>A",
"hgvs_p": "p.Arg1798Arg",
"transcript": "NM_001441074.1",
"protein_id": "NP_001428003.1",
"transcript_support_level": null,
"aa_start": 1798,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5394,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441074.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5394G>A",
"hgvs_p": "p.Arg1798Arg",
"transcript": "NM_001441075.1",
"protein_id": "NP_001428004.1",
"transcript_support_level": null,
"aa_start": 1798,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5394,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441075.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5157G>A",
"hgvs_p": "p.Arg1719Arg",
"transcript": "NM_001144764.2",
"protein_id": "NP_001138236.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 1833,
"cds_start": 5157,
"cds_end": null,
"cds_length": 5502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144764.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5154G>A",
"hgvs_p": "p.Arg1718Arg",
"transcript": "NM_001441076.1",
"protein_id": "NP_001428005.1",
"transcript_support_level": null,
"aa_start": 1718,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5154,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441076.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5061G>A",
"hgvs_p": "p.Arg1687Arg",
"transcript": "NM_001144765.2",
"protein_id": "NP_001138237.1",
"transcript_support_level": null,
"aa_start": 1687,
"aa_end": null,
"aa_length": 1801,
"cds_start": 5061,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144765.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5628G>A",
"hgvs_p": "p.Arg1876Arg",
"transcript": "XM_017017397.2",
"protein_id": "XP_016872886.2",
"transcript_support_level": null,
"aa_start": 1876,
"aa_end": null,
"aa_length": 1990,
"cds_start": 5628,
"cds_end": null,
"cds_length": 5973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017397.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.5625G>A",
"hgvs_p": "p.Arg1875Arg",
"transcript": "XM_017017398.2",
"protein_id": "XP_016872887.2",
"transcript_support_level": null,
"aa_start": 1875,
"aa_end": null,
"aa_length": 1989,
"cds_start": 5625,
"cds_end": null,
"cds_length": 5970,
"cdna_start": null,
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],
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"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.238,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
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"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
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"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015065.3",
"gene_symbol": "EXPH5",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
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},
{
"score": -20,
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"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000740313.1",
"gene_symbol": "ENSG00000296559",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.325-5429C>T",
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},
{
"score": -20,
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"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_007062880.1",
"gene_symbol": "LOC112267909",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.591-5429C>T",
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}
],
"clinvar_disease": "EXPH5-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "EXPH5-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}