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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: 9-131128421-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=131128421&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NUP214",
"hgnc_id": 8064,
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_005085.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.193,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"chr": "9",
"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": 0.285756379365921,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2090,
"aa_ref": "M",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7568,
"cdna_start": 450,
"cds_end": null,
"cds_length": 6273,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_005085.4",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359428.10",
"protein_coding": true,
"protein_id": "NP_005076.3",
"strand": true,
"transcript": "NM_005085.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2090,
"aa_ref": "M",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7568,
"cdna_start": 450,
"cds_end": null,
"cds_length": 6273,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000359428.10",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005085.4",
"protein_coding": true,
"protein_id": "ENSP00000352400.5",
"strand": true,
"transcript": "ENST00000359428.10",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2080,
"aa_ref": "M",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7538,
"cdna_start": 450,
"cds_end": null,
"cds_length": 6243,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000411637.6",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396576.2",
"strand": true,
"transcript": "ENST00000411637.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2091,
"aa_ref": "M",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7575,
"cdna_start": 450,
"cds_end": null,
"cds_length": 6276,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000897205.1",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567264.1",
"strand": true,
"transcript": "ENST00000897205.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2080,
"aa_ref": "M",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7538,
"cdna_start": 450,
"cds_end": null,
"cds_length": 6243,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001318324.2",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305253.1",
"strand": true,
"transcript": "NM_001318324.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2079,
"aa_ref": "M",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6562,
"cdna_start": 436,
"cds_end": null,
"cds_length": 6240,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000897208.1",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567267.1",
"strand": true,
"transcript": "ENST00000897208.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2079,
"aa_ref": "M",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6556,
"cdna_start": 430,
"cds_end": null,
"cds_length": 6240,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000897209.1",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567268.1",
"strand": true,
"transcript": "ENST00000897209.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2078,
"aa_ref": "M",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6537,
"cdna_start": 440,
"cds_end": null,
"cds_length": 6237,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000652454.1",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499001.1",
"strand": true,
"transcript": "ENST00000652454.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2042,
"aa_ref": "M",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7424,
"cdna_start": 446,
"cds_end": null,
"cds_length": 6129,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922158.1",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592217.1",
"strand": true,
"transcript": "ENST00000922158.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2041,
"aa_ref": "M",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7180,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 6126,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000897206.1",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567265.1",
"strand": true,
"transcript": "ENST00000897206.1",
"transcript_support_level": null
},
{
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"aa_length": 2030,
"aa_ref": "M",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7377,
"cdna_start": 439,
"cds_end": null,
"cds_length": 6093,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922160.1",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592219.1",
"strand": true,
"transcript": "ENST00000922160.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 2029,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7354,
"cdna_start": 419,
"cds_end": null,
"cds_length": 6090,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 34,
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"exon_rank_end": null,
"feature": "ENST00000922161.1",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592220.1",
"strand": true,
"transcript": "ENST00000922161.1",
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},
{
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"aa_length": 2011,
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"biotype": "protein_coding",
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"cdna_start": 439,
"cds_end": null,
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"cds_start": 331,
"consequences": [
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],
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"feature": "ENST00000922162.1",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592221.1",
"strand": true,
"transcript": "ENST00000922162.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2010,
"aa_ref": "M",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6359,
"cdna_start": 440,
"cds_end": null,
"cds_length": 6033,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000897207.1",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567266.1",
"strand": true,
"transcript": "ENST00000897207.1",
"transcript_support_level": null
},
{
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"aa_length": 1984,
"aa_ref": "M",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 406,
"cds_end": null,
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"consequences": [
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],
"exon_count": 36,
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"exon_rank_end": null,
"feature": "ENST00000897210.1",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567269.1",
"strand": true,
"transcript": "ENST00000897210.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 1956,
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7163,
"cdna_start": 450,
"cds_end": null,
"cds_length": 5871,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922159.1",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592218.1",
"strand": true,
"transcript": "ENST00000922159.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1951,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6166,
"cdna_start": 425,
"cds_end": null,
"cds_length": 5856,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922164.1",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000592223.1",
"strand": true,
"transcript": "ENST00000922164.1",
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},
{
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"aa_ref": "M",
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"biotype": "protein_coding",
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"cdna_start": 439,
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"consequences": [
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],
"exon_count": 31,
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"feature": "ENST00000922163.1",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592222.1",
"strand": true,
"transcript": "ENST00000922163.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 1940,
"aa_ref": "M",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 6130,
"cdna_start": 423,
"cds_end": null,
"cds_length": 5823,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922165.1",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Met111Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592224.1",
"strand": true,
"transcript": "ENST00000922165.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 718,
"aa_ref": "M",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": 297,
"cds_end": null,
"cds_length": 2158,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000651022.1",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.295A>G",
"hgvs_p": "p.Met99Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498226.1",
"strand": true,
"transcript": "ENST00000651022.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 186,
"aa_ref": "M",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 907,
"cdna_start": 407,
"cds_end": null,
"cds_length": 561,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000651639.1",
"gene_hgnc_id": 8064,
"gene_symbol": "NUP214",
"hgvs_c": "c.61A>G",
"hgvs_p": "p.Met21Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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