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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: 22-29793363-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29793363&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ASCC2",
"hgnc_id": 24103,
"hgvs_c": "c.1916G>T",
"hgvs_p": "p.Arg639Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001369920.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 279,
"alphamissense_prediction": null,
"alphamissense_score": 0.7193,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0408896803855896,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2790,
"cdna_start": 2030,
"cds_end": null,
"cds_length": 2274,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_032204.5",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.1916G>T",
"hgvs_p": "p.Arg639Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000307790.8",
"protein_coding": true,
"protein_id": "NP_115580.2",
"strand": false,
"transcript": "NM_032204.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2790,
"cdna_start": 2030,
"cds_end": null,
"cds_length": 2274,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000307790.8",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.1916G>T",
"hgvs_p": "p.Arg639Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032204.5",
"protein_coding": true,
"protein_id": "ENSP00000305502.3",
"strand": false,
"transcript": "ENST00000307790.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 798,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 2210,
"cds_end": null,
"cds_length": 2397,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000865578.1",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.2039G>T",
"hgvs_p": "p.Arg680Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535637.1",
"strand": false,
"transcript": "ENST00000865578.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 792,
"aa_ref": "R",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2952,
"cdna_start": 2192,
"cds_end": null,
"cds_length": 2379,
"cds_start": 2021,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000865580.1",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.2021G>T",
"hgvs_p": "p.Arg674Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535639.1",
"strand": false,
"transcript": "ENST00000865580.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 792,
"aa_ref": "R",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2873,
"cdna_start": 2118,
"cds_end": null,
"cds_length": 2379,
"cds_start": 2021,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000960647.1",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.2021G>T",
"hgvs_p": "p.Arg674Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630706.1",
"strand": false,
"transcript": "ENST00000960647.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "R",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 2154,
"cds_end": null,
"cds_length": 2355,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000865583.1",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.1997G>T",
"hgvs_p": "p.Arg666Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535642.1",
"strand": false,
"transcript": "ENST00000865583.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 781,
"aa_ref": "R",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2891,
"cdna_start": 2134,
"cds_end": null,
"cds_length": 2346,
"cds_start": 1988,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000865590.1",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.1988G>T",
"hgvs_p": "p.Arg663Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535649.1",
"strand": false,
"transcript": "ENST00000865590.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 768,
"aa_ref": "R",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2817,
"cdna_start": 2057,
"cds_end": null,
"cds_length": 2307,
"cds_start": 1949,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000923281.1",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.1949G>T",
"hgvs_p": "p.Arg650Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593340.1",
"strand": false,
"transcript": "ENST00000923281.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 766,
"aa_ref": "R",
"aa_start": 648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1943,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000960645.1",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.1943G>T",
"hgvs_p": "p.Arg648Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630704.1",
"strand": false,
"transcript": "ENST00000960645.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 762,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2805,
"cdna_start": 2030,
"cds_end": null,
"cds_length": 2289,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001369920.1",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.1916G>T",
"hgvs_p": "p.Arg639Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356849.1",
"strand": false,
"transcript": "NM_001369920.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 762,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2826,
"cdna_start": 2050,
"cds_end": null,
"cds_length": 2289,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000865563.1",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.1916G>T",
"hgvs_p": "p.Arg639Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535622.1",
"strand": false,
"transcript": "ENST00000865563.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 762,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2862,
"cdna_start": 2087,
"cds_end": null,
"cds_length": 2289,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000865575.1",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.1916G>T",
"hgvs_p": "p.Arg639Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535634.1",
"strand": false,
"transcript": "ENST00000865575.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2926,
"cdna_start": 2166,
"cds_end": null,
"cds_length": 2274,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001369921.1",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.1916G>T",
"hgvs_p": "p.Arg639Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356850.1",
"strand": false,
"transcript": "NM_001369921.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2899,
"cdna_start": 2139,
"cds_end": null,
"cds_length": 2274,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001369922.1",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.1916G>T",
"hgvs_p": "p.Arg639Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356851.1",
"strand": false,
"transcript": "NM_001369922.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2852,
"cdna_start": 2092,
"cds_end": null,
"cds_length": 2274,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001369923.1",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.1916G>T",
"hgvs_p": "p.Arg639Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356852.1",
"strand": false,
"transcript": "NM_001369923.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 2094,
"cds_end": null,
"cds_length": 2274,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000397771.6",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.1916G>T",
"hgvs_p": "p.Arg639Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380877.2",
"strand": false,
"transcript": "ENST00000397771.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
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"aa_length": 757,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2873,
"cdna_start": 2113,
"cds_end": null,
"cds_length": 2274,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000865570.1",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.1916G>T",
"hgvs_p": "p.Arg639Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535629.1",
"strand": false,
"transcript": "ENST00000865570.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 2032,
"cds_end": null,
"cds_length": 2274,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000865584.1",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.1916G>T",
"hgvs_p": "p.Arg639Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535643.1",
"strand": false,
"transcript": "ENST00000865584.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 2065,
"cds_end": null,
"cds_length": 2274,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000865588.1",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.1916G>T",
"hgvs_p": "p.Arg639Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535647.1",
"strand": false,
"transcript": "ENST00000865588.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3141,
"cdna_start": 2381,
"cds_end": null,
"cds_length": 2274,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000865592.1",
"gene_hgnc_id": 24103,
"gene_symbol": "ASCC2",
"hgvs_c": "c.1916G>T",
"hgvs_p": "p.Arg639Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535651.1",
"strand": false,
"transcript": "ENST00000865592.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2981,
"cdna_start": 2221,
"cds_end": null,
"cds_length": 2274,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000923278.1",
"gene_hgnc_id": 24103,
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