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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: 1-151090553-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151090553&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GABPB2",
"hgnc_id": 28441,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Ile102Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001323910.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.1387,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "1",
"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": 0.06281724572181702,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 448,
"aa_ref": "I",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8807,
"cdna_start": 430,
"cds_end": null,
"cds_length": 1347,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_144618.3",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368918.8",
"protein_coding": true,
"protein_id": "NP_653219.1",
"strand": true,
"transcript": "NM_144618.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 448,
"aa_ref": "I",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8807,
"cdna_start": 430,
"cds_end": null,
"cds_length": 1347,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000368918.8",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144618.3",
"protein_coding": true,
"protein_id": "ENSP00000357914.3",
"strand": true,
"transcript": "ENST00000368918.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 464,
"aa_ref": "I",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8855,
"cdna_start": 478,
"cds_end": null,
"cds_length": 1395,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001323910.2",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Ile102Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310839.1",
"strand": true,
"transcript": "NM_001323910.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 464,
"aa_ref": "I",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 421,
"cds_end": null,
"cds_length": 1395,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931884.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Ile102Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601943.1",
"strand": true,
"transcript": "ENST00000931884.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 464,
"aa_ref": "I",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3531,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1395,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000947109.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Ile102Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617168.1",
"strand": true,
"transcript": "ENST00000947109.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 452,
"aa_ref": "I",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2760,
"cdna_start": 430,
"cds_end": null,
"cds_length": 1359,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001323906.2",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310835.1",
"strand": true,
"transcript": "NM_001323906.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 448,
"aa_ref": "I",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8839,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1347,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001323908.2",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310837.1",
"strand": true,
"transcript": "NM_001323908.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 448,
"aa_ref": "I",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2420,
"cdna_start": 435,
"cds_end": null,
"cds_length": 1347,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000897349.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567408.1",
"strand": true,
"transcript": "ENST00000897349.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 448,
"aa_ref": "I",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1347,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897351.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567410.1",
"strand": true,
"transcript": "ENST00000897351.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 448,
"aa_ref": "I",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1347,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000947114.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617173.1",
"strand": true,
"transcript": "ENST00000947114.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 541,
"cds_end": null,
"cds_length": 1347,
"cds_start": 256,
"consequences": [
"missense_variant"
],
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"feature": "ENST00000947117.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617176.1",
"strand": true,
"transcript": "ENST00000947117.1",
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},
{
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"cdna_start": 941,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000947119.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.256A>G",
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"protein_coding": true,
"protein_id": "ENSP00000617178.1",
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"transcript": "ENST00000947119.1",
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},
{
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000897353.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.304A>G",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567412.1",
"strand": true,
"transcript": "ENST00000897353.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1523,
"cdna_start": 467,
"cds_end": null,
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"cds_start": 304,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931883.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Ile102Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000601942.1",
"strand": true,
"transcript": "ENST00000931883.1",
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},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_start": 594,
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"consequences": [
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],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000947115.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Ile102Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617174.1",
"strand": true,
"transcript": "ENST00000947115.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 414,
"aa_ref": "I",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": 430,
"cds_end": null,
"cds_length": 1245,
"cds_start": 256,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001323911.2",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310840.1",
"strand": true,
"transcript": "NM_001323911.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 410,
"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 8693,
"cdna_start": 430,
"cds_end": null,
"cds_length": 1233,
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"consequences": [
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],
"exon_count": 8,
"exon_rank": 3,
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"feature": "NM_001323909.2",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.256A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001310838.1",
"strand": true,
"transcript": "NM_001323909.2",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"cdna_start": 288,
"cds_end": null,
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"consequences": [
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],
"exon_count": 7,
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"exon_rank_end": null,
"feature": "ENST00000368916.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357912.1",
"strand": true,
"transcript": "ENST00000368916.1",
"transcript_support_level": 5
},
{
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"aa_ref": "I",
"aa_start": 86,
"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 572,
"cds_end": null,
"cds_length": 1233,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000897348.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
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"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567407.1",
"strand": true,
"transcript": "ENST00000897348.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 410,
"aa_ref": "I",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": 707,
"cds_end": null,
"cds_length": 1233,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897350.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567409.1",
"strand": true,
"transcript": "ENST00000897350.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 410,
"aa_ref": "I",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1565,
"cdna_start": 357,
"cds_end": null,
"cds_length": 1233,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000897352.1",
"gene_hgnc_id": 28441,
"gene_symbol": "GABPB2",
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ile86Val",
"intron_rank": null,
"intron_rank_end": null,
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