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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: 8-122952156-GCC-ACG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=122952156&ref=GCC&alt=ACG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ZHX2",
"hgnc_id": 18513,
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_014943.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4361,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014943.5",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000314393.6",
"protein_coding": true,
"protein_id": "NP_055758.1",
"strand": true,
"transcript": "NM_014943.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4361,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000314393.6",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014943.5",
"protein_coding": true,
"protein_id": "ENSP00000314709.4",
"strand": true,
"transcript": "ENST00000314393.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4516,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001362797.2",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349726.1",
"strand": true,
"transcript": "NM_001362797.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4499,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412796.1",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399725.1",
"strand": true,
"transcript": "NM_001412796.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4568,
"cdna_start": 1427,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412797.1",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399726.1",
"strand": true,
"transcript": "NM_001412797.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4601,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412798.1",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399727.1",
"strand": true,
"transcript": "NM_001412798.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4645,
"cdna_start": 1504,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412799.1",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399728.1",
"strand": true,
"transcript": "NM_001412799.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4537,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412800.1",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399729.1",
"strand": true,
"transcript": "NM_001412800.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4425,
"cdna_start": 1284,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412801.1",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399730.1",
"strand": true,
"transcript": "NM_001412801.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4498,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412802.1",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399731.1",
"strand": true,
"transcript": "NM_001412802.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4329,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412803.1",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399732.1",
"strand": true,
"transcript": "NM_001412803.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4150,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412804.1",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399733.1",
"strand": true,
"transcript": "NM_001412804.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4176,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412805.1",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399734.1",
"strand": true,
"transcript": "NM_001412805.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4331,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412806.1",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399735.1",
"strand": true,
"transcript": "NM_001412806.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4634,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412807.1",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399736.1",
"strand": true,
"transcript": "NM_001412807.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5316,
"cdna_start": 2175,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412808.1",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399737.1",
"strand": true,
"transcript": "NM_001412808.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4479,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412809.1",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399738.1",
"strand": true,
"transcript": "NM_001412809.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4538,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412810.1",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399739.1",
"strand": true,
"transcript": "NM_001412810.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4585,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412811.1",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399740.1",
"strand": true,
"transcript": "NM_001412811.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4917,
"cdna_start": 1776,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001412812.1",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399741.1",
"strand": true,
"transcript": "NM_001412812.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4864,
"cdna_start": 1719,
"cds_end": null,
"cds_length": 2514,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892386.1",
"gene_hgnc_id": 18513,
"gene_symbol": "ZHX2",
"hgvs_c": "c.646_648delGCCinsACG",
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