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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: 9-34551898-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34551898&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": "CNTFR",
"hgnc_id": 2170,
"hgvs_c": "c.*173C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001842.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 95556,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 372,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2038,
"cdna_start": null,
"cds_end": null,
"cds_length": 1119,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_147164.3",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378980.8",
"protein_coding": true,
"protein_id": "NP_671693.1",
"strand": false,
"transcript": "NM_147164.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 372,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2038,
"cdna_start": null,
"cds_end": null,
"cds_length": 1119,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000378980.8",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_147164.3",
"protein_coding": true,
"protein_id": "ENSP00000368265.3",
"strand": false,
"transcript": "ENST00000378980.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 372,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1910,
"cdna_start": null,
"cds_end": null,
"cds_length": 1119,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000351266.8",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000242338.4",
"strand": false,
"transcript": "ENST00000351266.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 390,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2090,
"cdna_start": null,
"cds_end": null,
"cds_length": 1173,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000868706.1",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538765.1",
"strand": false,
"transcript": "ENST00000868706.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 380,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1995,
"cdna_start": null,
"cds_end": null,
"cds_length": 1143,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000868699.1",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538758.1",
"strand": false,
"transcript": "ENST00000868699.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 380,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": null,
"cds_end": null,
"cds_length": 1143,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000868701.1",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538760.1",
"strand": false,
"transcript": "ENST00000868701.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 380,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": null,
"cds_end": null,
"cds_length": 1143,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868707.1",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538766.1",
"strand": false,
"transcript": "ENST00000868707.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 372,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1946,
"cdna_start": null,
"cds_end": null,
"cds_length": 1119,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001207011.2",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193940.1",
"strand": false,
"transcript": "NM_001207011.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 372,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1927,
"cdna_start": null,
"cds_end": null,
"cds_length": 1119,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001842.5",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001833.1",
"strand": false,
"transcript": "NM_001842.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 372,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1926,
"cdna_start": null,
"cds_end": null,
"cds_length": 1119,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000610543.4",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480451.1",
"strand": false,
"transcript": "ENST00000610543.4",
"transcript_support_level": 5
},
{
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"aa_length": 372,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2006,
"cdna_start": null,
"cds_end": null,
"cds_length": 1119,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000868690.1",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538749.1",
"strand": false,
"transcript": "ENST00000868690.1",
"transcript_support_level": null
},
{
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"aa_length": 372,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2043,
"cdna_start": null,
"cds_end": null,
"cds_length": 1119,
"cds_start": null,
"consequences": [
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],
"exon_count": 10,
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"exon_rank_end": null,
"feature": "ENST00000868691.1",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000538750.1",
"strand": false,
"transcript": "ENST00000868691.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
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"feature": "ENST00000868692.1",
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"gene_symbol": "CNTFR",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000538751.1",
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"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1868,
"cdna_start": null,
"cds_end": null,
"cds_length": 1119,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868693.1",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000538752.1",
"strand": false,
"transcript": "ENST00000868693.1",
"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": 2006,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868694.1",
"gene_hgnc_id": 2170,
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"hgvs_c": "c.*173C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000538753.1",
"strand": false,
"transcript": "ENST00000868694.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2093,
"cdna_start": null,
"cds_end": null,
"cds_length": 1119,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000868695.1",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000538754.1",
"strand": false,
"transcript": "ENST00000868695.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2394,
"cdna_start": null,
"cds_end": null,
"cds_length": 1119,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000868696.1",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000538755.1",
"strand": false,
"transcript": "ENST00000868696.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868697.1",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
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"protein_id": "ENSP00000538756.1",
"strand": false,
"transcript": "ENST00000868697.1",
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},
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"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868698.1",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000538757.1",
"strand": false,
"transcript": "ENST00000868698.1",
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},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868700.1",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538759.1",
"strand": false,
"transcript": "ENST00000868700.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": null,
"cds_end": null,
"cds_length": 1119,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868702.1",
"gene_hgnc_id": 2170,
"gene_symbol": "CNTFR",
"hgvs_c": "c.*173C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538761.1",
"strand": false,
"transcript": "ENST00000868702.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"transcript": "NM_001842.5"
}
]
}