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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: 14-103695926-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=103695926&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "KLC1",
"hgnc_id": 6387,
"hgvs_c": "c.*2308G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001394833.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 654984,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "14",
"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": 639,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2550,
"cdna_start": null,
"cds_end": null,
"cds_length": 1920,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394837.1",
"gene_hgnc_id": 6387,
"gene_symbol": "KLC1",
"hgvs_c": "c.1848+3501G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334553.11",
"protein_coding": true,
"protein_id": "NP_001381766.1",
"strand": true,
"transcript": "NM_001394837.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 639,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2550,
"cdna_start": null,
"cds_end": null,
"cds_length": 1920,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000334553.11",
"gene_hgnc_id": 6387,
"gene_symbol": "KLC1",
"hgvs_c": "c.1848+3501G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001394837.1",
"protein_coding": true,
"protein_id": "ENSP00000334523.6",
"strand": true,
"transcript": "ENST00000334553.11",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 573,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15091,
"cdna_start": null,
"cds_end": null,
"cds_length": 1722,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000348520.10",
"gene_hgnc_id": 6387,
"gene_symbol": "KLC1",
"hgvs_c": "c.1651-4729G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341154.6",
"strand": true,
"transcript": "ENST00000348520.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 662,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5811,
"cdna_start": null,
"cds_end": null,
"cds_length": 1989,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001394833.1",
"gene_hgnc_id": 6387,
"gene_symbol": "KLC1",
"hgvs_c": "c.*2308G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381762.1",
"strand": true,
"transcript": "NM_001394833.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 653,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5784,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001394835.1",
"gene_hgnc_id": 6387,
"gene_symbol": "KLC1",
"hgvs_c": "c.*2308G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381764.1",
"strand": true,
"transcript": "NM_001394835.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 637,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5736,
"cdna_start": null,
"cds_end": null,
"cds_length": 1914,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001394838.1",
"gene_hgnc_id": 6387,
"gene_symbol": "KLC1",
"hgvs_c": "c.*2308G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381767.1",
"strand": true,
"transcript": "NM_001394838.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 628,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5709,
"cdna_start": null,
"cds_end": null,
"cds_length": 1887,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001394841.1",
"gene_hgnc_id": 6387,
"gene_symbol": "KLC1",
"hgvs_c": "c.*2308G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381770.1",
"strand": true,
"transcript": "NM_001394841.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 605,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5669,
"cdna_start": null,
"cds_end": null,
"cds_length": 1818,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001394845.1",
"gene_hgnc_id": 6387,
"gene_symbol": "KLC1",
"hgvs_c": "c.*2337G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381774.1",
"strand": true,
"transcript": "NM_001394845.1",
"transcript_support_level": null
},
{
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"aa_length": 596,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5642,
"cdna_start": null,
"cds_end": null,
"cds_length": 1791,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001394847.1",
"gene_hgnc_id": 6387,
"gene_symbol": "KLC1",
"hgvs_c": "c.*2337G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381776.1",
"strand": true,
"transcript": "NM_001394847.1",
"transcript_support_level": null
},
{
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"aa_length": 562,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5511,
"cdna_start": null,
"cds_end": null,
"cds_length": 1689,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001394853.1",
"gene_hgnc_id": 6387,
"gene_symbol": "KLC1",
"hgvs_c": "c.*2308G>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001381782.1",
"strand": true,
"transcript": "NM_001394853.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001394854.1",
"gene_hgnc_id": 6387,
"gene_symbol": "KLC1",
"hgvs_c": "c.*2408G>A",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381783.1",
"strand": true,
"transcript": "NM_001394854.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 15,
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"feature": "NM_001394859.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001381788.1",
"strand": true,
"transcript": "NM_001394859.1",
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},
{
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],
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"feature": "NM_001394832.1",
"gene_hgnc_id": 6387,
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"hgvs_c": "c.1923+3501G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001381761.1",
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},
{
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"cds_end": null,
"cds_length": 1995,
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"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000881698.1",
"gene_hgnc_id": 6387,
"gene_symbol": "KLC1",
"hgvs_c": "c.1923+3501G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000551757.1",
"strand": true,
"transcript": "ENST00000881698.1",
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},
{
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"consequences": [
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],
"exon_count": 17,
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"feature": "NM_001394834.1",
"gene_hgnc_id": 6387,
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"hgvs_c": "c.1896+3501G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001381763.1",
"strand": true,
"transcript": "NM_001394834.1",
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},
{
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"cds_end": null,
"cds_length": 1968,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000881703.1",
"gene_hgnc_id": 6387,
"gene_symbol": "KLC1",
"hgvs_c": "c.1896+3501G>A",
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"intron_rank": 15,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000551762.1",
"strand": true,
"transcript": "ENST00000881703.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2558,
"cdna_start": null,
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"cds_length": 1932,
"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394836.1",
"gene_hgnc_id": 6387,
"gene_symbol": "KLC1",
"hgvs_c": "c.1857-4729G>A",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001381765.1",
"strand": true,
"transcript": "NM_001394836.1",
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},
{
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"consequences": [
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],
"exon_count": 16,
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"feature": "NM_001394839.1",
"gene_hgnc_id": 6387,
"gene_symbol": "KLC1",
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"protein_id": "NP_001381768.1",
"strand": true,
"transcript": "NM_001394839.1",
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},
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"consequences": [
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],
"exon_count": 17,
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"feature": "ENST00000881695.1",
"gene_hgnc_id": 6387,
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"hgvs_c": "c.1824+3501G>A",
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"protein_coding": true,
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"strand": true,
"transcript": "ENST00000881695.1",
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},
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
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"feature": "NM_001394840.1",
"gene_hgnc_id": 6387,
"gene_symbol": "KLC1",
"hgvs_c": "c.1821+3501G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381769.1",
"strand": true,
"transcript": "NM_001394840.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": null,
"cds_end": null,
"cds_length": 1893,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555836.5",
"gene_hgnc_id": 6387,
"gene_symbol": "KLC1",
"hgvs_c": "c.1821+3501G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452481.1",
"strand": true,
"transcript": "ENST00000555836.5",
"transcript_support_level": 5
},
{
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