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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: 11-108509793-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108509793&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 108509793,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015065.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5714T>C",
"hgvs_p": "p.Leu1905Pro",
"transcript": "NM_015065.3",
"protein_id": "NP_055880.2",
"transcript_support_level": null,
"aa_start": 1905,
"aa_end": null,
"aa_length": 1989,
"cds_start": 5714,
"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": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5714T>C",
"hgvs_p": "p.Leu1905Pro",
"transcript": "ENST00000265843.9",
"protein_id": "ENSP00000265843.4",
"transcript_support_level": 1,
"aa_start": 1905,
"aa_end": null,
"aa_length": 1989,
"cds_start": 5714,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5693T>C",
"hgvs_p": "p.Leu1898Pro",
"transcript": "ENST00000525344.5",
"protein_id": "ENSP00000432546.1",
"transcript_support_level": 1,
"aa_start": 1898,
"aa_end": null,
"aa_length": 1982,
"cds_start": 5693,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5711T>C",
"hgvs_p": "p.Leu1904Pro",
"transcript": "NM_001441059.1",
"protein_id": "NP_001427988.1",
"transcript_support_level": null,
"aa_start": 1904,
"aa_end": null,
"aa_length": 1988,
"cds_start": 5711,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5693T>C",
"hgvs_p": "p.Leu1898Pro",
"transcript": "NM_001308019.2",
"protein_id": "NP_001294948.1",
"transcript_support_level": null,
"aa_start": 1898,
"aa_end": null,
"aa_length": 1982,
"cds_start": 5693,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5690T>C",
"hgvs_p": "p.Leu1897Pro",
"transcript": "NM_001441060.1",
"protein_id": "NP_001427989.1",
"transcript_support_level": null,
"aa_start": 1897,
"aa_end": null,
"aa_length": 1981,
"cds_start": 5690,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5486T>C",
"hgvs_p": "p.Leu1829Pro",
"transcript": "NM_001144763.2",
"protein_id": "NP_001138235.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5486,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5486T>C",
"hgvs_p": "p.Leu1829Pro",
"transcript": "NM_001441061.1",
"protein_id": "NP_001427990.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5486,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5486T>C",
"hgvs_p": "p.Leu1829Pro",
"transcript": "NM_001441067.1",
"protein_id": "NP_001427996.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5486,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5486T>C",
"hgvs_p": "p.Leu1829Pro",
"transcript": "NM_001441068.1",
"protein_id": "NP_001427997.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5486,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5486T>C",
"hgvs_p": "p.Leu1829Pro",
"transcript": "NM_001441069.1",
"protein_id": "NP_001427998.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5486,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5486T>C",
"hgvs_p": "p.Leu1829Pro",
"transcript": "NM_001441070.1",
"protein_id": "NP_001427999.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5486,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5486T>C",
"hgvs_p": "p.Leu1829Pro",
"transcript": "NM_001441071.1",
"protein_id": "NP_001428000.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5486,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5486T>C",
"hgvs_p": "p.Leu1829Pro",
"transcript": "NM_001441072.1",
"protein_id": "NP_001428001.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5486,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5483T>C",
"hgvs_p": "p.Leu1828Pro",
"transcript": "NM_001441073.1",
"protein_id": "NP_001428002.1",
"transcript_support_level": null,
"aa_start": 1828,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5483,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5483T>C",
"hgvs_p": "p.Leu1828Pro",
"transcript": "NM_001441074.1",
"protein_id": "NP_001428003.1",
"transcript_support_level": null,
"aa_start": 1828,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5483,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5483T>C",
"hgvs_p": "p.Leu1828Pro",
"transcript": "NM_001441075.1",
"protein_id": "NP_001428004.1",
"transcript_support_level": null,
"aa_start": 1828,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5483,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5246T>C",
"hgvs_p": "p.Leu1749Pro",
"transcript": "NM_001144764.2",
"protein_id": "NP_001138236.1",
"transcript_support_level": null,
"aa_start": 1749,
"aa_end": null,
"aa_length": 1833,
"cds_start": 5246,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5243T>C",
"hgvs_p": "p.Leu1748Pro",
"transcript": "NM_001441076.1",
"protein_id": "NP_001428005.1",
"transcript_support_level": null,
"aa_start": 1748,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5243,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5150T>C",
"hgvs_p": "p.Leu1717Pro",
"transcript": "NM_001144765.2",
"protein_id": "NP_001138237.1",
"transcript_support_level": null,
"aa_start": 1717,
"aa_end": null,
"aa_length": 1801,
"cds_start": 5150,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5717T>C",
"hgvs_p": "p.Leu1906Pro",
"transcript": "XM_017017397.2",
"protein_id": "XP_016872886.2",
"transcript_support_level": null,
"aa_start": 1906,
"aa_end": null,
"aa_length": 1990,
"cds_start": 5717,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5714T>C",
"hgvs_p": "p.Leu1905Pro",
"transcript": "XM_017017398.2",
"protein_id": "XP_016872887.2",
"transcript_support_level": null,
"aa_start": 1905,
"aa_end": null,
"aa_length": 1989,
"cds_start": 5714,
"cds_end": null,
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{
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"verdict": "Uncertain_significance",
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{
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],
"verdict": "Uncertain_significance",
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"effects": [
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],
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},
{
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],
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],
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"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}