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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: X-53534169-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53534169&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 53534169,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_031407.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12860C>T",
"hgvs_p": "p.Ser4287Phe",
"transcript": "NM_031407.7",
"protein_id": "NP_113584.3",
"transcript_support_level": null,
"aa_start": 4287,
"aa_end": null,
"aa_length": 4374,
"cds_start": 12860,
"cds_end": null,
"cds_length": 13125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262854.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031407.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12860C>T",
"hgvs_p": "p.Ser4287Phe",
"transcript": "ENST00000262854.11",
"protein_id": "ENSP00000262854.6",
"transcript_support_level": 1,
"aa_start": 4287,
"aa_end": null,
"aa_length": 4374,
"cds_start": 12860,
"cds_end": null,
"cds_length": 13125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031407.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262854.11"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12860C>T",
"hgvs_p": "p.Ser4287Phe",
"transcript": "NM_001441057.1",
"protein_id": "NP_001427986.1",
"transcript_support_level": null,
"aa_start": 4287,
"aa_end": null,
"aa_length": 4374,
"cds_start": 12860,
"cds_end": null,
"cds_length": 13125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441057.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12860C>T",
"hgvs_p": "p.Ser4287Phe",
"transcript": "ENST00000342160.7",
"protein_id": "ENSP00000340648.3",
"transcript_support_level": 5,
"aa_start": 4287,
"aa_end": null,
"aa_length": 4374,
"cds_start": 12860,
"cds_end": null,
"cds_length": 13125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342160.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12857C>T",
"hgvs_p": "p.Ser4286Phe",
"transcript": "NM_001441051.1",
"protein_id": "NP_001427980.1",
"transcript_support_level": null,
"aa_start": 4286,
"aa_end": null,
"aa_length": 4373,
"cds_start": 12857,
"cds_end": null,
"cds_length": 13122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441051.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12857C>T",
"hgvs_p": "p.Ser4286Phe",
"transcript": "NM_001441056.1",
"protein_id": "NP_001427985.1",
"transcript_support_level": null,
"aa_start": 4286,
"aa_end": null,
"aa_length": 4373,
"cds_start": 12857,
"cds_end": null,
"cds_length": 13122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441056.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12836C>T",
"hgvs_p": "p.Ser4279Phe",
"transcript": "NM_001441050.1",
"protein_id": "NP_001427979.1",
"transcript_support_level": null,
"aa_start": 4279,
"aa_end": null,
"aa_length": 4366,
"cds_start": 12836,
"cds_end": null,
"cds_length": 13101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441050.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12836C>T",
"hgvs_p": "p.Ser4279Phe",
"transcript": "NM_001441055.1",
"protein_id": "NP_001427984.1",
"transcript_support_level": null,
"aa_start": 4279,
"aa_end": null,
"aa_length": 4366,
"cds_start": 12836,
"cds_end": null,
"cds_length": 13101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441055.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 80,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12833C>T",
"hgvs_p": "p.Ser4278Phe",
"transcript": "ENST00000612484.4",
"protein_id": "ENSP00000479451.1",
"transcript_support_level": 5,
"aa_start": 4278,
"aa_end": null,
"aa_length": 4365,
"cds_start": 12833,
"cds_end": null,
"cds_length": 13098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612484.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12815C>T",
"hgvs_p": "p.Ser4272Phe",
"transcript": "NM_001441049.1",
"protein_id": "NP_001427978.1",
"transcript_support_level": null,
"aa_start": 4272,
"aa_end": null,
"aa_length": 4359,
"cds_start": 12815,
"cds_end": null,
"cds_length": 13080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441049.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12815C>T",
"hgvs_p": "p.Ser4272Phe",
"transcript": "NM_001441054.1",
"protein_id": "NP_001427983.1",
"transcript_support_level": null,
"aa_start": 4272,
"aa_end": null,
"aa_length": 4359,
"cds_start": 12815,
"cds_end": null,
"cds_length": 13080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441054.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12812C>T",
"hgvs_p": "p.Ser4271Phe",
"transcript": "NM_001441048.1",
"protein_id": "NP_001427977.1",
"transcript_support_level": null,
"aa_start": 4271,
"aa_end": null,
"aa_length": 4358,
"cds_start": 12812,
"cds_end": null,
"cds_length": 13077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441048.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12812C>T",
"hgvs_p": "p.Ser4271Phe",
"transcript": "NM_001441053.1",
"protein_id": "NP_001427982.1",
"transcript_support_level": null,
"aa_start": 4271,
"aa_end": null,
"aa_length": 4358,
"cds_start": 12812,
"cds_end": null,
"cds_length": 13077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441053.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12812C>T",
"hgvs_p": "p.Ser4271Phe",
"transcript": "NM_001441058.1",
"protein_id": "NP_001427987.1",
"transcript_support_level": null,
"aa_start": 4271,
"aa_end": null,
"aa_length": 4358,
"cds_start": 12812,
"cds_end": null,
"cds_length": 13077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441058.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12809C>T",
"hgvs_p": "p.Ser4270Phe",
"transcript": "ENST00000913494.1",
"protein_id": "ENSP00000583553.1",
"transcript_support_level": null,
"aa_start": 4270,
"aa_end": null,
"aa_length": 4357,
"cds_start": 12809,
"cds_end": null,
"cds_length": 13074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913494.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12644C>T",
"hgvs_p": "p.Ser4215Phe",
"transcript": "ENST00000704099.1",
"protein_id": "ENSP00000515693.1",
"transcript_support_level": null,
"aa_start": 4215,
"aa_end": null,
"aa_length": 4302,
"cds_start": 12644,
"cds_end": null,
"cds_length": 12909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704099.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 80,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12458C>T",
"hgvs_p": "p.Ser4153Phe",
"transcript": "NM_001441052.1",
"protein_id": "NP_001427981.1",
"transcript_support_level": null,
"aa_start": 4153,
"aa_end": null,
"aa_length": 4240,
"cds_start": 12458,
"cds_end": null,
"cds_length": 12723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441052.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 80,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.12458C>T",
"hgvs_p": "p.Ser4153Phe",
"transcript": "ENST00000913493.1",
"protein_id": "ENSP00000583552.1",
"transcript_support_level": null,
"aa_start": 4153,
"aa_end": null,
"aa_length": 4240,
"cds_start": 12458,
"cds_end": null,
"cds_length": 12723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913493.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3326C>T",
"hgvs_p": "p.Ser1109Phe",
"transcript": "ENST00000426907.5",
"protein_id": "ENSP00000403236.1",
"transcript_support_level": 5,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3326,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426907.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.13130C>T",
"hgvs_p": "p.Ser4377Phe",
"transcript": "XM_017029198.3",
"protein_id": "XP_016884687.1",
"transcript_support_level": null,
"aa_start": 4377,
"aa_end": null,
"aa_length": 4464,
"cds_start": 13130,
"cds_end": null,
"cds_length": 13395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029198.3"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.13130C>T",
"hgvs_p": "p.Ser4377Phe",
"transcript": "XM_017029199.2",
"protein_id": "XP_016884688.1",
"transcript_support_level": null,
"aa_start": 4377,
"aa_end": null,
"aa_length": 4464,
"cds_start": 13130,
"cds_end": null,
"cds_length": 13395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029199.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.13130C>T",
"hgvs_p": "p.Ser4377Phe",
"transcript": "XM_017029202.2",
"protein_id": "XP_016884691.1",
"transcript_support_level": null,
"aa_start": 4377,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Pathogenic",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 4,
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"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031407.7",
"gene_symbol": "HUWE1",
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],
"inheritance_mode": "XL,AD",
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],
"clinvar_disease": " Turner type, X-linked syndromic,Intellectual disability,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Intellectual disability, X-linked syndromic, Turner type",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}