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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: 5-150033215-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150033215&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "HMGXB3",
"hgnc_id": 28982,
"hgvs_c": "c.1983+612A>G",
"hgvs_p": null,
"inheritance_mode": "Unknown",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_014983.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 25448,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1292,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5258,
"cdna_start": null,
"cds_end": null,
"cds_length": 3879,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014983.3",
"gene_hgnc_id": 28982,
"gene_symbol": "HMGXB3",
"hgvs_c": "c.1983+612A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000502717.6",
"protein_coding": true,
"protein_id": "NP_055798.3",
"strand": true,
"transcript": "NM_014983.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1292,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5258,
"cdna_start": null,
"cds_end": null,
"cds_length": 3879,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000502717.6",
"gene_hgnc_id": 28982,
"gene_symbol": "HMGXB3",
"hgvs_c": "c.1983+612A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014983.3",
"protein_coding": true,
"protein_id": "ENSP00000421917.1",
"strand": true,
"transcript": "ENST00000502717.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1538,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5567,
"cdna_start": null,
"cds_end": null,
"cds_length": 4617,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000613459.4",
"gene_hgnc_id": 28982,
"gene_symbol": "HMGXB3",
"hgvs_c": "c.2721+612A>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479027.1",
"strand": true,
"transcript": "ENST00000613459.4",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1321,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5348,
"cdna_start": null,
"cds_end": null,
"cds_length": 3966,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971018.1",
"gene_hgnc_id": 28982,
"gene_symbol": "HMGXB3",
"hgvs_c": "c.2070+612A>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641077.1",
"strand": true,
"transcript": "ENST00000971018.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1299,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5284,
"cdna_start": null,
"cds_end": null,
"cds_length": 3900,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880047.1",
"gene_hgnc_id": 28982,
"gene_symbol": "HMGXB3",
"hgvs_c": "c.2004+612A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550106.1",
"strand": true,
"transcript": "ENST00000880047.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1298,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5317,
"cdna_start": null,
"cds_end": null,
"cds_length": 3897,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971015.1",
"gene_hgnc_id": 28982,
"gene_symbol": "HMGXB3",
"hgvs_c": "c.1983+612A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641074.1",
"strand": true,
"transcript": "ENST00000971015.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1291,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5271,
"cdna_start": null,
"cds_end": null,
"cds_length": 3876,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880046.1",
"gene_hgnc_id": 28982,
"gene_symbol": "HMGXB3",
"hgvs_c": "c.1983+612A>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550105.1",
"strand": true,
"transcript": "ENST00000880046.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1260,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5275,
"cdna_start": null,
"cds_end": null,
"cds_length": 3783,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000503427.5",
"gene_hgnc_id": 28982,
"gene_symbol": "HMGXB3",
"hgvs_c": "c.1887+612A>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422231.1",
"strand": true,
"transcript": "ENST00000503427.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1259,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5201,
"cdna_start": null,
"cds_end": null,
"cds_length": 3780,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971014.1",
"gene_hgnc_id": 28982,
"gene_symbol": "HMGXB3",
"hgvs_c": "c.1884+612A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641073.1",
"strand": true,
"transcript": "ENST00000971014.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5115,
"cdna_start": null,
"cds_end": null,
"cds_length": 3729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971017.1",
"gene_hgnc_id": 28982,
"gene_symbol": "HMGXB3",
"hgvs_c": "c.1833+2376A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641076.1",
"strand": true,
"transcript": "ENST00000971017.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000971019.1",
"gene_hgnc_id": 28982,
"gene_symbol": "HMGXB3",
"hgvs_c": "c.1833+2376A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000641078.1",
"strand": true,
"transcript": "ENST00000971019.1",
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},
{
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"consequences": [
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],
"exon_count": 19,
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"feature": "ENST00000971016.1",
"gene_hgnc_id": 28982,
"gene_symbol": "HMGXB3",
"hgvs_c": "c.1983+612A>G",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641075.1",
"strand": true,
"transcript": "ENST00000971016.1",
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},
{
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],
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"feature": "ENST00000971020.1",
"gene_hgnc_id": 28982,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000641079.1",
"strand": true,
"transcript": "ENST00000971020.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000880044.1",
"gene_hgnc_id": 28982,
"gene_symbol": "HMGXB3",
"hgvs_c": "c.1740+612A>G",
"hgvs_p": null,
"intron_rank": 11,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000550103.1",
"strand": true,
"transcript": "ENST00000880044.1",
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},
{
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],
"exon_count": 19,
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"feature": "NM_001366501.2",
"gene_hgnc_id": 28982,
"gene_symbol": "HMGXB3",
"hgvs_c": "c.1485+612A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001353430.1",
"strand": true,
"transcript": "NM_001366501.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000933326.1",
"gene_hgnc_id": 28982,
"gene_symbol": "HMGXB3",
"hgvs_c": "c.1485+612A>G",
"hgvs_p": null,
"intron_rank": 10,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000603385.1",
"strand": true,
"transcript": "ENST00000933326.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 3282,
"cds_start": null,
"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880045.1",
"gene_hgnc_id": 28982,
"gene_symbol": "HMGXB3",
"hgvs_c": "c.1386+612A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000550104.1",
"strand": true,
"transcript": "ENST00000880045.1",
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},
{
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],
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"feature": "ENST00000880048.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000550107.1",
"strand": true,
"transcript": "ENST00000880048.1",
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},
{
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],
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"feature": "XM_047416963.1",
"gene_hgnc_id": 28982,
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"hgvs_c": "c.1983+612A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047272919.1",
"strand": true,
"transcript": "XM_047416963.1",
"transcript_support_level": null
},
{
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"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000513318.1",
"gene_hgnc_id": 28982,
"gene_symbol": "HMGXB3",
"hgvs_c": "n.673+612A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000513318.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
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"aa_length": null,
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"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 975,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000514469.1",
"gene_hgnc_id": 28982,
"gene_symbol": "HMGXB3",
"hgvs_c": "n.303+612A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000426631.1",
"strand": true,
"transcript": "ENST00000514469.1",
"transcript_support_level": 5
}
],
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}