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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: 8-129852272-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=129852272&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 129852272,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016623.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001353258.2",
"protein_id": "NP_001340187.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000694912.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353258.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "ENST00000694912.1",
"protein_id": "ENSP00000511587.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001353258.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694912.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "ENST00000519540.5",
"protein_id": "ENSP00000429499.1",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519540.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "ENST00000522746.5",
"protein_id": "ENSP00000428117.1",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522746.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "ENST00000523509.5",
"protein_id": "ENSP00000429802.1",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523509.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001256763.2",
"protein_id": "NP_001243692.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256763.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001353242.2",
"protein_id": "NP_001340171.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353242.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001353243.2",
"protein_id": "NP_001340172.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353243.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001353244.2",
"protein_id": "NP_001340173.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353244.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001353245.1",
"protein_id": "NP_001340174.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353245.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001353246.1",
"protein_id": "NP_001340175.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353246.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001353247.1",
"protein_id": "NP_001340176.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353247.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001353248.2",
"protein_id": "NP_001340177.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353248.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001353249.1",
"protein_id": "NP_001340178.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353249.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001353250.1",
"protein_id": "NP_001340179.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353250.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001353251.1",
"protein_id": "NP_001340180.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353251.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001353252.1",
"protein_id": "NP_001340181.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353252.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001353253.1",
"protein_id": "NP_001340182.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353253.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001353254.2",
"protein_id": "NP_001340183.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353254.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001353255.1",
"protein_id": "NP_001340184.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353255.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001353256.2",
"protein_id": "NP_001340185.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353256.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg",
"transcript": "NM_001353257.2",
"protein_id": "NP_001340186.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 324,
"cds_start": 523,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353257.2"
},
{
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016623.5",
"gene_symbol": "CYRIB",
"hgnc_id": 25216,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Gly175Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}