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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: 10-110964815-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=110964815&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 110964815,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_007373.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "NM_007373.4",
"protein_id": "NP_031399.2",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 582,
"cds_start": 457,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369452.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007373.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "ENST00000369452.9",
"protein_id": "ENSP00000358464.5",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 582,
"cds_start": 457,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007373.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369452.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "NM_001324336.2",
"protein_id": "NP_001311265.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 582,
"cds_start": 457,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324336.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "NM_001324337.2",
"protein_id": "NP_001311266.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 582,
"cds_start": 457,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324337.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "NM_001441184.1",
"protein_id": "NP_001428113.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 582,
"cds_start": 457,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441184.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "NM_001441185.1",
"protein_id": "NP_001428114.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 582,
"cds_start": 457,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441185.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "ENST00000685059.1",
"protein_id": "ENSP00000510210.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 582,
"cds_start": 457,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685059.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "ENST00000688928.1",
"protein_id": "ENSP00000509273.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 582,
"cds_start": 457,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688928.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "ENST00000689118.1",
"protein_id": "ENSP00000510554.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 582,
"cds_start": 457,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689118.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "ENST00000689300.1",
"protein_id": "ENSP00000510639.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 582,
"cds_start": 457,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689300.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "ENST00000691369.1",
"protein_id": "ENSP00000509754.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 582,
"cds_start": 457,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691369.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "ENST00000691441.1",
"protein_id": "ENSP00000509686.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 582,
"cds_start": 457,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691441.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "ENST00000902509.1",
"protein_id": "ENSP00000572568.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 582,
"cds_start": 457,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902509.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "ENST00000902510.1",
"protein_id": "ENSP00000572569.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 582,
"cds_start": 457,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902510.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "ENST00000902511.1",
"protein_id": "ENSP00000572570.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 582,
"cds_start": 457,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902511.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "ENST00000902512.1",
"protein_id": "ENSP00000572571.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 582,
"cds_start": 457,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902512.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "ENST00000927906.1",
"protein_id": "ENSP00000597965.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 582,
"cds_start": 457,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927906.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "ENST00000947765.1",
"protein_id": "ENSP00000617824.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 582,
"cds_start": 457,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947765.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "NM_001269039.3",
"protein_id": "NP_001255968.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 536,
"cds_start": 457,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001269039.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "NM_001441186.1",
"protein_id": "NP_001428115.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 536,
"cds_start": 457,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441186.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "ENST00000265277.10",
"protein_id": "ENSP00000265277.5",
"transcript_support_level": 2,
"aa_start": 153,
"aa_end": null,
"aa_length": 536,
"cds_start": 457,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265277.10"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Leu",
"transcript": "ENST00000927907.1",
"protein_id": "ENSP00000597966.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 536,
"cds_start": 457,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
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"clinvar_classification": "Benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "B:10",
"phenotype_combined": "RASopathy|Noonan syndrome-like disorder with loose anagen hair 1|not specified|Noonan syndrome and Noonan-related syndrome|not provided|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}