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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: 16-71867971-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=71867971&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 71867971,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001201552.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Gly36Glu",
"transcript": "NM_001201552.2",
"protein_id": "NP_001188481.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 412,
"cds_start": 107,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000425432.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201552.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Gly36Glu",
"transcript": "ENST00000425432.6",
"protein_id": "ENSP00000398089.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 412,
"cds_start": 107,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001201552.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425432.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.41-2923G>A",
"hgvs_p": null,
"transcript": "ENST00000313565.10",
"protein_id": "ENSP00000313822.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": null,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313565.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.41-2923G>A",
"hgvs_p": null,
"transcript": "ENST00000446827.6",
"protein_id": "ENSP00000405908.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": null,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446827.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.41-2923G>A",
"hgvs_p": null,
"transcript": "ENST00000565516.5",
"protein_id": "ENSP00000456193.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565516.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.41-2923G>A",
"hgvs_p": null,
"transcript": "ENST00000562797.5",
"protein_id": "ENSP00000458112.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": null,
"cds_end": null,
"cds_length": 638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562797.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "n.107G>A",
"hgvs_p": null,
"transcript": "ENST00000568961.5",
"protein_id": "ENSP00000457396.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000568961.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Gly36Glu",
"transcript": "NM_001201553.1",
"protein_id": "NP_001188482.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 412,
"cds_start": 107,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201553.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Gly36Glu",
"transcript": "NM_001376297.1",
"protein_id": "NP_001363226.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 412,
"cds_start": 107,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376297.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Gly36Glu",
"transcript": "NM_001376298.1",
"protein_id": "NP_001363227.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 412,
"cds_start": 107,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376298.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Gly36Glu",
"transcript": "NM_001376299.1",
"protein_id": "NP_001363228.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 412,
"cds_start": 107,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376299.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Gly36Glu",
"transcript": "ENST00000565601.5",
"protein_id": "ENSP00000455648.1",
"transcript_support_level": 2,
"aa_start": 36,
"aa_end": null,
"aa_length": 412,
"cds_start": 107,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565601.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Gly36Glu",
"transcript": "ENST00000861708.1",
"protein_id": "ENSP00000531767.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 412,
"cds_start": 107,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861708.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Gly36Glu",
"transcript": "ENST00000861709.1",
"protein_id": "ENSP00000531768.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 412,
"cds_start": 107,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861709.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Gly36Glu",
"transcript": "ENST00000861710.1",
"protein_id": "ENSP00000531769.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 412,
"cds_start": 107,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861710.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Gly36Glu",
"transcript": "ENST00000861712.1",
"protein_id": "ENSP00000531771.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 412,
"cds_start": 107,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861712.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Gly36Glu",
"transcript": "ENST00000861716.1",
"protein_id": "ENSP00000531775.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 412,
"cds_start": 107,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861716.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Gly36Glu",
"transcript": "ENST00000918406.1",
"protein_id": "ENSP00000588465.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 412,
"cds_start": 107,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918406.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Gly36Glu",
"transcript": "ENST00000918407.1",
"protein_id": "ENSP00000588466.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 412,
"cds_start": 107,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918407.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Gly36Glu",
"transcript": "ENST00000918408.1",
"protein_id": "ENSP00000588467.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 412,
"cds_start": 107,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918408.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Gly36Glu",
"transcript": "ENST00000918410.1",
"protein_id": "ENSP00000588469.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 412,
"cds_start": 107,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918410.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF821",
"gene_hgnc_id": 28043,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Gly36Glu",
"transcript": "ENST00000918411.1",
"protein_id": "ENSP00000588470.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 412,
"cds_start": 107,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918411.1"
},
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{
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{
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"verdict": "Likely_benign",
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{
"score": -6,
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],
"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
}