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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: 13-108214465-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=108214465&ref=T&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": "LIG4",
"hgnc_id": 6601,
"hgvs_c": "c.88+73A>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001352604.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 7999,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 911,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": null,
"cds_end": null,
"cds_length": 2736,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_206937.2",
"gene_hgnc_id": 6601,
"gene_symbol": "LIG4",
"hgvs_c": "c.-29+73A>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000442234.6",
"protein_coding": true,
"protein_id": "NP_996820.1",
"strand": false,
"transcript": "NM_206937.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 911,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": null,
"cds_end": null,
"cds_length": 2736,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000442234.6",
"gene_hgnc_id": 6601,
"gene_symbol": "LIG4",
"hgvs_c": "c.-29+73A>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_206937.2",
"protein_coding": true,
"protein_id": "ENSP00000402030.1",
"strand": false,
"transcript": "ENST00000442234.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 911,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4065,
"cdna_start": null,
"cds_end": null,
"cds_length": 2736,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000405925.2",
"gene_hgnc_id": 6601,
"gene_symbol": "LIG4",
"hgvs_c": "c.-28-3169A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385955.1",
"strand": false,
"transcript": "ENST00000405925.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 923,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4005,
"cdna_start": null,
"cds_end": null,
"cds_length": 2772,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352604.2",
"gene_hgnc_id": 6601,
"gene_symbol": "LIG4",
"hgvs_c": "c.88+73A>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339533.1",
"strand": false,
"transcript": "NM_001352604.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 911,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4043,
"cdna_start": null,
"cds_end": null,
"cds_length": 2736,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001098268.2",
"gene_hgnc_id": 6601,
"gene_symbol": "LIG4",
"hgvs_c": "c.-28-3169A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001091738.1",
"strand": false,
"transcript": "NM_001098268.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 911,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4460,
"cdna_start": null,
"cds_end": null,
"cds_length": 2736,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352598.2",
"gene_hgnc_id": 6601,
"gene_symbol": "LIG4",
"hgvs_c": "c.-29+97A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339527.1",
"strand": false,
"transcript": "NM_001352598.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 911,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4484,
"cdna_start": null,
"cds_end": null,
"cds_length": 2736,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352599.2",
"gene_hgnc_id": 6601,
"gene_symbol": "LIG4",
"hgvs_c": "c.-29+73A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339528.1",
"strand": false,
"transcript": "NM_001352599.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 911,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4376,
"cdna_start": null,
"cds_end": null,
"cds_length": 2736,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352600.2",
"gene_hgnc_id": 6601,
"gene_symbol": "LIG4",
"hgvs_c": "c.-29+73A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339529.1",
"strand": false,
"transcript": "NM_001352600.2",
"transcript_support_level": null
},
{
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"aa_length": 911,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4085,
"cdna_start": null,
"cds_end": null,
"cds_length": 2736,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352601.2",
"gene_hgnc_id": 6601,
"gene_symbol": "LIG4",
"hgvs_c": "c.-29+73A>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339530.1",
"strand": false,
"transcript": "NM_001352601.2",
"transcript_support_level": null
},
{
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"aa_length": 911,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3977,
"cdna_start": null,
"cds_end": null,
"cds_length": 2736,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352602.2",
"gene_hgnc_id": 6601,
"gene_symbol": "LIG4",
"hgvs_c": "c.-29+73A>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339531.1",
"strand": false,
"transcript": "NM_001352602.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 3,
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"feature": "NM_001352603.1",
"gene_hgnc_id": 6601,
"gene_symbol": "LIG4",
"hgvs_c": "c.-29+73A>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001339532.1",
"strand": false,
"transcript": "NM_001352603.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
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"feature": "NM_001379095.1",
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"protein_coding": true,
"protein_id": "NP_001366024.1",
"strand": false,
"transcript": "NM_001379095.1",
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},
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],
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"feature": "NM_002312.3",
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"transcript": "NM_002312.3",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 3,
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"feature": "ENST00000611712.4",
"gene_hgnc_id": 6601,
"gene_symbol": "LIG4",
"hgvs_c": "c.-29+73A>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000484288.1",
"strand": false,
"transcript": "ENST00000611712.4",
"transcript_support_level": 4
},
{
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"consequences": [
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],
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"feature": "ENST00000685338.1",
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"protein_coding": true,
"protein_id": "ENSP00000510567.1",
"strand": false,
"transcript": "ENST00000685338.1",
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},
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"consequences": [
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],
"exon_count": 3,
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"feature": "ENST00000686095.1",
"gene_hgnc_id": 6601,
"gene_symbol": "LIG4",
"hgvs_c": "c.-29+73A>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000509942.1",
"strand": false,
"transcript": "ENST00000686095.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 3,
"exon_rank": null,
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"feature": "ENST00000686204.1",
"gene_hgnc_id": 6601,
"gene_symbol": "LIG4",
"hgvs_c": "c.-29+97A>C",
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"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000509685.1",
"strand": false,
"transcript": "ENST00000686204.1",
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},
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"consequences": [
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],
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"feature": "ENST00000686913.1",
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"transcript": "ENST00000686913.1",
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},
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"consequences": [
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],
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"feature": "ENST00000686926.1",
"gene_hgnc_id": 6601,
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"protein_coding": true,
"protein_id": "ENSP00000509122.1",
"strand": false,
"transcript": "ENST00000686926.1",
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},
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"consequences": [
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],
"exon_count": 3,
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"feature": "ENST00000687164.1",
"gene_hgnc_id": 6601,
"gene_symbol": "LIG4",
"hgvs_c": "c.-29+73A>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000508512.1",
"strand": false,
"transcript": "ENST00000687164.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2736,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000687822.1",
"gene_hgnc_id": 6601,
"gene_symbol": "LIG4",
"hgvs_c": "c.-29+73A>C",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509344.1",
"strand": false,
"transcript": "ENST00000687822.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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