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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: 16-3224097-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3224097&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF200",
"hgnc_id": 12993,
"hgvs_c": "c.983G>C",
"hgvs_p": "p.Gly328Ala",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_003454.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "OR1F1",
"hgnc_id": 8194,
"hgvs_c": "n.419-472C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000576468.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.3236,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07173225283622742,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 395,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 1188,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_198088.3",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.983G>C",
"hgvs_p": "p.Gly328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000414144.7",
"protein_coding": true,
"protein_id": "NP_932354.1",
"strand": false,
"transcript": "NM_198088.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 395,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 1188,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000414144.7",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.983G>C",
"hgvs_p": "p.Gly328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198088.3",
"protein_coding": true,
"protein_id": "ENSP00000405786.2",
"strand": false,
"transcript": "ENST00000414144.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 395,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3348,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 1188,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000431561.7",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.983G>C",
"hgvs_p": "p.Gly328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395723.3",
"strand": false,
"transcript": "ENST00000431561.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 394,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3082,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 1185,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000396868.7",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.980G>C",
"hgvs_p": "p.Gly327Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380077.3",
"strand": false,
"transcript": "ENST00000396868.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 394,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2373,
"cdna_start": 1612,
"cds_end": null,
"cds_length": 1185,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000396870.8",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.980G>C",
"hgvs_p": "p.Gly327Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380079.4",
"strand": false,
"transcript": "ENST00000396870.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 394,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3162,
"cdna_start": 1407,
"cds_end": null,
"cds_length": 1185,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000396871.8",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.980G>C",
"hgvs_p": "p.Gly327Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380080.4",
"strand": false,
"transcript": "ENST00000396871.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 394,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1350,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 1185,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000575948.1",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.980G>C",
"hgvs_p": "p.Gly327Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458508.1",
"strand": false,
"transcript": "ENST00000575948.1",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 434,
"aa_ref": "G",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2801,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1100,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854062.1",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.1100G>C",
"hgvs_p": "p.Gly367Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524121.1",
"strand": false,
"transcript": "ENST00000854062.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 433,
"aa_ref": "G",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3113,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1097,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854059.1",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.1097G>C",
"hgvs_p": "p.Gly366Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524118.1",
"strand": false,
"transcript": "ENST00000854059.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 395,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3359,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 1188,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_003454.4",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.983G>C",
"hgvs_p": "p.Gly328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003445.2",
"strand": false,
"transcript": "NM_003454.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 395,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": 1427,
"cds_end": null,
"cds_length": 1188,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854057.1",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.983G>C",
"hgvs_p": "p.Gly328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524116.1",
"strand": false,
"transcript": "ENST00000854057.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 395,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3508,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 1188,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000854058.1",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.983G>C",
"hgvs_p": "p.Gly328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524117.1",
"strand": false,
"transcript": "ENST00000854058.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 395,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 1188,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000854060.1",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.983G>C",
"hgvs_p": "p.Gly328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524119.1",
"strand": false,
"transcript": "ENST00000854060.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 395,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3299,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 1188,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000854061.1",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.983G>C",
"hgvs_p": "p.Gly328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524120.1",
"strand": false,
"transcript": "ENST00000854061.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 395,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3034,
"cdna_start": 1560,
"cds_end": null,
"cds_length": 1188,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000854063.1",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.983G>C",
"hgvs_p": "p.Gly328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524122.1",
"strand": false,
"transcript": "ENST00000854063.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 395,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2425,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1188,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000946755.1",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.983G>C",
"hgvs_p": "p.Gly328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616814.1",
"strand": false,
"transcript": "ENST00000946755.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 395,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 1188,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000946756.1",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.983G>C",
"hgvs_p": "p.Gly328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616815.1",
"strand": false,
"transcript": "ENST00000946756.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 394,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2880,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 1185,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001145446.2",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.980G>C",
"hgvs_p": "p.Gly327Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138918.1",
"strand": false,
"transcript": "NM_001145446.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 394,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3356,
"cdna_start": 1584,
"cds_end": null,
"cds_length": 1185,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001145447.2",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.980G>C",
"hgvs_p": "p.Gly327Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138919.1",
"strand": false,
"transcript": "NM_001145447.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 394,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3005,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 1185,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001145448.2",
"gene_hgnc_id": 12993,
"gene_symbol": "ZNF200",
"hgvs_c": "c.980G>C",
"hgvs_p": "p.Gly327Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138920.1",
"strand": false,
"transcript": "NM_001145448.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 394,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2880,
"cdna_start": 1108,
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