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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: 4-765023-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=765023&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 765023,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006315.7",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "NM_006315.7",
"protein_id": "NP_006306.2",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000362003.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006315.7"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "ENST00000362003.10",
"protein_id": "ENSP00000354724.5",
"transcript_support_level": 5,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006315.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000362003.10"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "ENST00000470161.6",
"protein_id": "ENSP00000420489.2",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470161.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "NM_001317836.3",
"protein_id": "NP_001304765.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317836.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "NM_001395245.1",
"protein_id": "NP_001382174.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395245.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "NM_001395246.1",
"protein_id": "NP_001382175.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395246.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "NM_001395247.1",
"protein_id": "NP_001382176.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395247.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "NM_001395248.1",
"protein_id": "NP_001382177.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395248.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "NM_001395249.1",
"protein_id": "NP_001382178.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395249.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "ENST00000870362.1",
"protein_id": "ENSP00000540421.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870362.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "ENST00000870364.1",
"protein_id": "ENSP00000540423.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870364.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "ENST00000917777.1",
"protein_id": "ENSP00000587836.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917777.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "ENST00000954672.1",
"protein_id": "ENSP00000624731.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954672.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "ENST00000954673.1",
"protein_id": "ENSP00000624732.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954673.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "ENST00000954674.1",
"protein_id": "ENSP00000624733.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954674.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "ENST00000954675.1",
"protein_id": "ENSP00000624734.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954675.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "ENST00000954676.1",
"protein_id": "ENSP00000624735.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954676.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "ENST00000954677.1",
"protein_id": "ENSP00000624736.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954677.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "ENST00000954678.1",
"protein_id": "ENSP00000624737.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954678.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "ENST00000954679.1",
"protein_id": "ENSP00000624738.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954679.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "ENST00000954680.1",
"protein_id": "ENSP00000624739.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954680.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCGF3",
"gene_hgnc_id": 10066,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.His214Tyr",
"transcript": "ENST00000954681.1",
"protein_id": "ENSP00000624740.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 242,
"cds_start": 640,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954681.1"
},
{
"aa_ref": "H",
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],
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{
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},
{
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}
],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "See cases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}