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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: 18-54293380-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=54293380&ref=C&alt=T&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": "POLI",
"hgnc_id": 9182,
"hgvs_c": "c.1405-269C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_007195.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 38441,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8600000143051147,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 740,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6020,
"cdna_start": null,
"cds_end": null,
"cds_length": 2223,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_007195.3",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.1405-269C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000579534.6",
"protein_coding": true,
"protein_id": "NP_009126.2",
"strand": true,
"transcript": "NM_007195.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 740,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6020,
"cdna_start": null,
"cds_end": null,
"cds_length": 2223,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000579534.6",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.1405-269C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007195.3",
"protein_coding": true,
"protein_id": "ENSP00000462664.1",
"strand": true,
"transcript": "ENST00000579534.6",
"transcript_support_level": 1
},
{
"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": 2705,
"cdna_start": null,
"cds_end": null,
"cds_length": 1914,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000579434.5",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.1096-269C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462681.1",
"strand": true,
"transcript": "ENST00000579434.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1734,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000585023.5",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "n.*500-269C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463971.1",
"strand": true,
"transcript": "ENST00000585023.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 715,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5963,
"cdna_start": null,
"cds_end": null,
"cds_length": 2148,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351632.2",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.1330-269C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338561.1",
"strand": true,
"transcript": "NM_001351632.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 698,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5932,
"cdna_start": null,
"cds_end": null,
"cds_length": 2097,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351610.1",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.1279-269C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338539.1",
"strand": true,
"transcript": "NM_001351610.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 689,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": null,
"cds_end": null,
"cds_length": 2070,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930897.1",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.1252-269C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600956.1",
"strand": true,
"transcript": "ENST00000930897.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 678,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": null,
"cds_end": null,
"cds_length": 2037,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000217800.9",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.1219-269C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000217800.6",
"strand": true,
"transcript": "ENST00000217800.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 672,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6001,
"cdna_start": null,
"cds_end": null,
"cds_length": 2019,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351611.2",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.1201-269C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338540.1",
"strand": true,
"transcript": "NM_001351611.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 672,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6334,
"cdna_start": null,
"cds_end": null,
"cds_length": 2019,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351612.2",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.1201-269C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338541.1",
"strand": true,
"transcript": "NM_001351612.2",
"transcript_support_level": null
},
{
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"aa_length": 661,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5821,
"cdna_start": null,
"cds_end": null,
"cds_length": 1986,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351613.1",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.1168-269C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338542.1",
"strand": true,
"transcript": "NM_001351613.1",
"transcript_support_level": null
},
{
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"aa_length": 661,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2030,
"cdna_start": null,
"cds_end": null,
"cds_length": 1986,
"cds_start": null,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000406285.7",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.1168-269C>T",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385196.3",
"strand": true,
"transcript": "ENST00000406285.7",
"transcript_support_level": 2
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000854650.1",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.1114-269C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000524709.1",
"strand": true,
"transcript": "ENST00000854650.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1914,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351614.2",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.1096-269C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338543.1",
"strand": true,
"transcript": "NM_001351614.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "NM_001351615.2",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.1096-269C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001338544.1",
"strand": true,
"transcript": "NM_001351615.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1860,
"cds_start": null,
"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351616.1",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.1042-269C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338545.1",
"strand": true,
"transcript": "NM_001351616.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2145,
"cdna_start": null,
"cds_end": null,
"cds_length": 1860,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941394.1",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.1042-269C>T",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611453.1",
"strand": true,
"transcript": "ENST00000941394.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000854649.1",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
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"protein_coding": true,
"protein_id": "ENSP00000524708.1",
"strand": true,
"transcript": "ENST00000854649.1",
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},
{
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"consequences": [
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],
"exon_count": 9,
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"feature": "NM_001351617.2",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.862-269C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001338546.1",
"strand": true,
"transcript": "NM_001351617.2",
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},
{
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"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351618.2",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.862-269C>T",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338547.1",
"strand": true,
"transcript": "NM_001351618.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5999,
"cdna_start": null,
"cds_end": null,
"cds_length": 1680,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351619.2",
"gene_hgnc_id": 9182,
"gene_symbol": "POLI",
"hgvs_c": "c.862-269C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338548.1",
"strand": true,
"transcript": "NM_001351619.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5762,
"cdna_start": null,
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