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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: 14-103686015-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=103686015&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 103686015,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000334553.11",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.*396C>A",
"hgvs_p": null,
"transcript": "ENST00000389744.8",
"protein_id": "ENSP00000374394.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 560,
"cds_start": -4,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.1651-1066C>A",
"hgvs_p": null,
"transcript": "NM_001394837.1",
"protein_id": "NP_001381766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": -4,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": "ENST00000334553.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.1651-1066C>A",
"hgvs_p": null,
"transcript": "ENST00000334553.11",
"protein_id": "ENSP00000334523.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": -4,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": "NM_001394837.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.1650+6470C>A",
"hgvs_p": null,
"transcript": "ENST00000348520.10",
"protein_id": "ENSP00000341154.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": -4,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.*396C>A",
"hgvs_p": null,
"transcript": "NM_001394849.1",
"protein_id": "NP_001381778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": -4,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.*396C>A",
"hgvs_p": null,
"transcript": "NM_001394850.1",
"protein_id": "NP_001381779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 576,
"cds_start": -4,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.*372C>A",
"hgvs_p": null,
"transcript": "NM_001394856.1",
"protein_id": "NP_001381785.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": -4,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.*396C>A",
"hgvs_p": null,
"transcript": "NM_005552.5",
"protein_id": "NP_005543.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 560,
"cds_start": -4,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.*997C>A",
"hgvs_p": null,
"transcript": "ENST00000553286.5",
"protein_id": "ENSP00000452487.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 560,
"cds_start": -4,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.*396C>A",
"hgvs_p": null,
"transcript": "NM_001394855.1",
"protein_id": "NP_001381784.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
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"cdna_length": 2547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.*372C>A",
"hgvs_p": null,
"transcript": "NM_001394860.1",
"protein_id": "NP_001381789.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "KLC1",
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"transcript": "NM_001394857.1",
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},
{
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"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.*396C>A",
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"transcript": "ENST00000445352.8",
"protein_id": "ENSP00000412693.4",
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},
{
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"strand": true,
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],
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "KLC1",
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"hgvs_c": "c.*372C>A",
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"transcript": "NM_001394858.1",
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},
{
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],
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"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
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"transcript": "ENST00000553325.5",
"protein_id": "ENSP00000452167.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "KLC1",
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"hgvs_c": "c.1726-1066C>A",
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"protein_id": "NP_001381761.1",
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},
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],
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"gene_symbol": "KLC1",
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"hgvs_c": "c.1726-1066C>A",
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"transcript": "NM_001394833.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.1699-1066C>A",
"hgvs_p": null,
"transcript": "NM_001394834.1",
"protein_id": "NP_001381763.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "KLC1",
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"hgvs_c": "c.1699-1066C>A",
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"transcript": "NM_001394835.1",
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},
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],
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"gene_symbol": "KLC1",
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"hgvs_c": "c.1726-1066C>A",
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},
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"strand": true,
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],
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"intron_rank": 13,
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"gene_symbol": "KLC1",
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"hgvs_c": "c.1651-1066C>A",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.1651-1066C>A",
"hgvs_p": null,
"transcript": "ENST00000246489.11",
"protein_id": "ENSP00000246489.7",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.1699-1066C>A",
"hgvs_p": null,
"transcript": "NM_001394839.1",
"protein_id": "NP_001381768.1",
"transcript_support_level": null,
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"cds_start": -4,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.87,
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong"
],
"verdict": "Likely_benign",
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{
"score": -2,
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000472726.3",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}