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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: 17-72849693-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=72849693&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC39A11",
"hgnc_id": 14463,
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Gly188Asp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001159770.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 72,
"alphamissense_prediction": null,
"alphamissense_score": 0.0942,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "17",
"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": 0.06826147437095642,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 335,
"aa_ref": "G",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 631,
"cds_end": null,
"cds_length": 1008,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_139177.4",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Gly181Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000255559.8",
"protein_coding": true,
"protein_id": "NP_631916.2",
"strand": false,
"transcript": "NM_139177.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 335,
"aa_ref": "G",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 631,
"cds_end": null,
"cds_length": 1008,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000255559.8",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Gly181Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_139177.4",
"protein_coding": true,
"protein_id": "ENSP00000255559.3",
"strand": false,
"transcript": "ENST00000255559.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 390,
"aa_ref": "G",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2893,
"cdna_start": 630,
"cds_end": null,
"cds_length": 1173,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000952469.1",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Gly181Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622528.1",
"strand": false,
"transcript": "ENST00000952469.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 342,
"aa_ref": "G",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2753,
"cdna_start": 652,
"cds_end": null,
"cds_length": 1029,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001159770.2",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Gly188Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153242.1",
"strand": false,
"transcript": "NM_001159770.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 342,
"aa_ref": "G",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2869,
"cdna_start": 768,
"cds_end": null,
"cds_length": 1029,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001352692.2",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Gly188Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339621.1",
"strand": false,
"transcript": "NM_001352692.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 342,
"aa_ref": "G",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2752,
"cdna_start": 652,
"cds_end": null,
"cds_length": 1029,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000542342.6",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Gly188Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445829.2",
"strand": false,
"transcript": "ENST00000542342.6",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 342,
"aa_ref": "G",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2869,
"cdna_start": 768,
"cds_end": null,
"cds_length": 1029,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000909850.1",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Gly188Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579909.1",
"strand": false,
"transcript": "ENST00000909850.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 342,
"aa_ref": "G",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3049,
"cdna_start": 946,
"cds_end": null,
"cds_length": 1029,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000909853.1",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Gly188Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579912.1",
"strand": false,
"transcript": "ENST00000909853.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 342,
"aa_ref": "G",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1391,
"cdna_start": 761,
"cds_end": null,
"cds_length": 1029,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909855.1",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Gly188Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579914.1",
"strand": false,
"transcript": "ENST00000909855.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 335,
"aa_ref": "G",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3141,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 1008,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001352691.2",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Gly181Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339620.1",
"strand": false,
"transcript": "NM_001352691.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 335,
"aa_ref": "G",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2848,
"cdna_start": 747,
"cds_end": null,
"cds_length": 1008,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001352693.2",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Gly181Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339622.1",
"strand": false,
"transcript": "NM_001352693.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 335,
"aa_ref": "G",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1008,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000909854.1",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Gly181Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579913.1",
"strand": false,
"transcript": "ENST00000909854.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 335,
"aa_ref": "G",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2733,
"cdna_start": 632,
"cds_end": null,
"cds_length": 1008,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000909856.1",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Gly181Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579915.1",
"strand": false,
"transcript": "ENST00000909856.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 595,
"cds_end": null,
"cds_length": 990,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909852.1",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Gly175Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579911.1",
"strand": false,
"transcript": "ENST00000909852.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2828,
"cdna_start": 731,
"cds_end": null,
"cds_length": 990,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952468.1",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Gly175Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622527.1",
"strand": false,
"transcript": "ENST00000952468.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2734,
"cdna_start": 634,
"cds_end": null,
"cds_length": 990,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952470.1",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Gly175Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622529.1",
"strand": false,
"transcript": "ENST00000952470.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 322,
"aa_ref": "G",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2697,
"cdna_start": 597,
"cds_end": null,
"cds_length": 969,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909849.1",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Gly168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579907.1",
"strand": false,
"transcript": "ENST00000909849.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 227,
"aa_ref": "G",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1004,
"cdna_start": 624,
"cds_end": null,
"cds_length": 684,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000579732.5",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Gly181Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464525.1",
"strand": false,
"transcript": "ENST00000579732.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 199,
"aa_ref": "G",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 794,
"cdna_start": 735,
"cds_end": null,
"cds_length": 601,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000580557.5",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Gly181Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462200.1",
"strand": false,
"transcript": "ENST00000580557.5",
"transcript_support_level": 3
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 184,
"aa_ref": "G",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 567,
"cdna_start": 300,
"cds_end": null,
"cds_length": 557,
"cds_start": 290,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000582769.5",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Gly97Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463467.1",
"strand": false,
"transcript": "ENST00000582769.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 123,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 589,
"cdna_start": 112,
"cds_end": null,
"cds_length": 372,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000583715.5",
"gene_hgnc_id": 14463,
"gene_symbol": "SLC39A11",
"hgvs_c": "c.110G>A",
"hgvs_p": "p.Gly37Asp",
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