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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: 22-38673201-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38673201&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38673201,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_015373.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "NM_015373.4",
"protein_id": "NP_056188.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216029.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015373.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000216029.8",
"protein_id": "ENSP00000216029.3",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015373.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216029.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TOMM22-DT",
"gene_hgnc_id": 56758,
"hgvs_c": "n.96-1504G>A",
"hgvs_p": null,
"transcript": "ENST00000444381.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000444381.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Leu119Leu",
"transcript": "ENST00000930725.1",
"protein_id": "ENSP00000600784.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 129,
"cds_start": 355,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930725.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "NM_001002880.4",
"protein_id": "NP_001002880.3",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002880.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000396811.6",
"protein_id": "ENSP00000380026.2",
"transcript_support_level": 2,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396811.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000411557.6",
"protein_id": "ENSP00000413934.2",
"transcript_support_level": 5,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411557.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000416285.6",
"protein_id": "ENSP00000412260.2",
"transcript_support_level": 3,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416285.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867938.1",
"protein_id": "ENSP00000537997.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867938.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867939.1",
"protein_id": "ENSP00000537998.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867939.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867941.1",
"protein_id": "ENSP00000538000.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867941.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867942.1",
"protein_id": "ENSP00000538001.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867942.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867943.1",
"protein_id": "ENSP00000538002.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867943.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867944.1",
"protein_id": "ENSP00000538003.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867944.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867945.1",
"protein_id": "ENSP00000538004.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867945.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867946.1",
"protein_id": "ENSP00000538005.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867946.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867947.1",
"protein_id": "ENSP00000538006.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867947.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867949.1",
"protein_id": "ENSP00000538008.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867949.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867950.1",
"protein_id": "ENSP00000538009.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867950.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867952.1",
"protein_id": "ENSP00000538011.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867952.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000867953.1",
"protein_id": "ENSP00000538012.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867953.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBY1",
"gene_hgnc_id": 1307,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Leu",
"transcript": "ENST00000930716.1",
"protein_id": "ENSP00000600775.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 126,
"cds_start": 346,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930716.1"
},
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"hgvs_p": "p.Leu116Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000444381.1",
"gene_symbol": "TOMM22-DT",
"hgnc_id": 56758,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.96-1504G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}