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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: 9-78236611-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=78236611&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "CEP78",
"hgnc_id": 25740,
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001098802.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 558042,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "9",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7799999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 705,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11233,
"cdna_start": null,
"cds_end": null,
"cds_length": 2118,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330691.3",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000643273.2",
"protein_coding": true,
"protein_id": "NP_001317620.1",
"strand": true,
"transcript": "NM_001330691.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 705,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11233,
"cdna_start": null,
"cds_end": null,
"cds_length": 2118,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643273.2",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001330691.3",
"protein_coding": true,
"protein_id": "ENSP00000496423.2",
"strand": true,
"transcript": "ENST00000643273.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 722,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": null,
"cds_end": null,
"cds_length": 2169,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000376597.9",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365782.4",
"strand": true,
"transcript": "ENST00000376597.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 727,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": null,
"cds_end": null,
"cds_length": 2184,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643499.1",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495962.1",
"strand": true,
"transcript": "ENST00000643499.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 722,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2758,
"cdna_start": null,
"cds_end": null,
"cds_length": 2169,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001098802.3",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001092272.1",
"strand": true,
"transcript": "NM_001098802.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 721,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2755,
"cdna_start": null,
"cds_end": null,
"cds_length": 2166,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349838.2",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336767.1",
"strand": true,
"transcript": "NM_001349838.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 721,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": null,
"cds_end": null,
"cds_length": 2166,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645398.1",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493822.1",
"strand": true,
"transcript": "ENST00000645398.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 716,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": null,
"cds_end": null,
"cds_length": 2151,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644208.1",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493600.1",
"strand": true,
"transcript": "ENST00000644208.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 711,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": null,
"cds_end": null,
"cds_length": 2136,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000376598.3",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365783.3",
"strand": true,
"transcript": "ENST00000376598.3",
"transcript_support_level": 5
},
{
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"aa_end": null,
"aa_length": 711,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": null,
"cds_end": null,
"cds_length": 2136,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643347.1",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494781.1",
"strand": true,
"transcript": "ENST00000643347.1",
"transcript_support_level": null
},
{
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"aa_length": 706,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11236,
"cdna_start": null,
"cds_end": null,
"cds_length": 2121,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349839.2",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336768.1",
"strand": true,
"transcript": "NM_001349839.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": null,
"cds_end": null,
"cds_length": 2121,
"cds_start": null,
"consequences": [
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"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
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"feature": "NM_032171.3",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_115547.1",
"strand": true,
"transcript": "NM_032171.3",
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},
{
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 15,
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"feature": "ENST00000415759.6",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399286.2",
"strand": true,
"transcript": "ENST00000415759.6",
"transcript_support_level": 5
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": null,
"cds_end": null,
"cds_length": 2121,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000642669.1",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000495681.1",
"strand": true,
"transcript": "ENST00000642669.1",
"transcript_support_level": null
},
{
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"cdna_length": 3929,
"cdna_start": null,
"cds_end": null,
"cds_length": 2121,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000906936.1",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576995.1",
"strand": true,
"transcript": "ENST00000906936.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2707,
"cdna_start": null,
"cds_end": null,
"cds_length": 2118,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
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"feature": "NM_001330694.2",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317623.1",
"strand": true,
"transcript": "NM_001330694.2",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000277082.9",
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"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000277082.5",
"strand": true,
"transcript": "ENST00000277082.9",
"transcript_support_level": 2
},
{
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"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647199.1",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000496384.1",
"strand": true,
"transcript": "ENST00000647199.1",
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},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349840.2",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336769.1",
"strand": true,
"transcript": "NM_001349840.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3903,
"cdna_start": null,
"cds_end": null,
"cds_length": 2073,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906935.1",
"gene_hgnc_id": 25740,
"gene_symbol": "CEP78",
"hgvs_c": "c.253+8G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576994.1",
"strand": true,
"transcript": "ENST00000906935.1",
"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": 11185,
"cdna_start": null,
"cds_end": null,
"cds_length": 2070,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
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