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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: 14-100538939-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=100538939&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BEGAIN",
"hgnc_id": 24163,
"hgvs_c": "c.959A>T",
"hgvs_p": "p.Glu320Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001385085.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000259031",
"hgnc_id": 58465,
"hgvs_c": "n.1T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000553301.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LOC124903382",
"hgnc_id": null,
"hgvs_c": "n.968T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "XR_007064333.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.212,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "14",
"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": 0.23710325360298157,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "E",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 996,
"cds_end": null,
"cds_length": 1839,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001385089.1",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.869A>T",
"hgvs_p": "p.Glu290Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000554140.3",
"protein_coding": true,
"protein_id": "NP_001372018.1",
"strand": false,
"transcript": "NM_001385089.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 612,
"aa_ref": "E",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 996,
"cds_end": null,
"cds_length": 1839,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000554140.3",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.869A>T",
"hgvs_p": "p.Glu290Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001385089.1",
"protein_coding": true,
"protein_id": "ENSP00000451125.2",
"strand": false,
"transcript": "ENST00000554140.3",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 593,
"aa_ref": "E",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2676,
"cdna_start": 884,
"cds_end": null,
"cds_length": 1782,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000355173.7",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Glu271Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347301.2",
"strand": false,
"transcript": "ENST00000355173.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 593,
"aa_ref": "E",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2750,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1782,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000557378.6",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Glu271Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450722.2",
"strand": false,
"transcript": "ENST00000557378.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 812,
"aa_ref": "E",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": 1469,
"cds_end": null,
"cds_length": 2439,
"cds_start": 1469,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000637716.2",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.1469A>T",
"hgvs_p": "p.Glu490Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490571.1",
"strand": false,
"transcript": "ENST00000637716.2",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 642,
"aa_ref": "E",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2878,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1929,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001385085.1",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.959A>T",
"hgvs_p": "p.Glu320Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372014.1",
"strand": false,
"transcript": "NM_001385085.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 636,
"aa_ref": "E",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 996,
"cds_end": null,
"cds_length": 1911,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001385086.1",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.941A>T",
"hgvs_p": "p.Glu314Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372015.1",
"strand": false,
"transcript": "NM_001385086.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 635,
"aa_ref": "E",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2758,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1908,
"cds_start": 938,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001385087.1",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.938A>T",
"hgvs_p": "p.Glu313Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372016.1",
"strand": false,
"transcript": "NM_001385087.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 623,
"aa_ref": "E",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3071,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 1872,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001385088.1",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.902A>T",
"hgvs_p": "p.Glu301Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372017.1",
"strand": false,
"transcript": "NM_001385088.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 623,
"aa_ref": "E",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2911,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1872,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000637646.1",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.902A>T",
"hgvs_p": "p.Glu301Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489826.1",
"strand": false,
"transcript": "ENST00000637646.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 606,
"aa_ref": "E",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": 906,
"cds_end": null,
"cds_length": 1821,
"cds_start": 851,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001385090.1",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.851A>T",
"hgvs_p": "p.Glu284Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372019.1",
"strand": false,
"transcript": "NM_001385090.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 606,
"aa_ref": "E",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2761,
"cdna_start": 971,
"cds_end": null,
"cds_length": 1821,
"cds_start": 851,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000965912.1",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.851A>T",
"hgvs_p": "p.Glu284Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635971.1",
"strand": false,
"transcript": "ENST00000965912.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 605,
"aa_ref": "E",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2668,
"cdna_start": 876,
"cds_end": null,
"cds_length": 1818,
"cds_start": 848,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001385091.1",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.848A>T",
"hgvs_p": "p.Glu283Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372020.1",
"strand": false,
"transcript": "NM_001385091.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 600,
"aa_ref": "E",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2680,
"cdna_start": 888,
"cds_end": null,
"cds_length": 1803,
"cds_start": 833,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001385092.1",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.833A>T",
"hgvs_p": "p.Glu278Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372021.1",
"strand": false,
"transcript": "NM_001385092.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 593,
"aa_ref": "E",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2981,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1782,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001159531.2",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Glu271Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153003.1",
"strand": false,
"transcript": "NM_001159531.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 593,
"aa_ref": "E",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2985,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 1782,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001385082.1",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Glu271Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372011.1",
"strand": false,
"transcript": "NM_001385082.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 593,
"aa_ref": "E",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3265,
"cdna_start": 1473,
"cds_end": null,
"cds_length": 1782,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001385083.1",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Glu271Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372012.1",
"strand": false,
"transcript": "NM_001385083.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 593,
"aa_ref": "E",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2892,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 1782,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001385084.1",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Glu271Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372013.1",
"strand": false,
"transcript": "NM_001385084.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 593,
"aa_ref": "E",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2674,
"cdna_start": 882,
"cds_end": null,
"cds_length": 1782,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_020836.4",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Glu271Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065887.1",
"strand": false,
"transcript": "NM_020836.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 593,
"aa_ref": "E",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 874,
"cds_end": null,
"cds_length": 1782,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000553553.6",
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Glu271Val",
"intron_rank": null,
"intron_rank_end": null,
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"transcript": "XR_007064334.1",
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}
],
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"dbscsnv_ada_score": null,
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"effect": "missense_variant",
"frequency_reference_population": 0.0000013734962,
"gene_hgnc_id": 24163,
"gene_symbol": "BEGAIN",
"gnomad_exomes_ac": 2,
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"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.144,
"pos": 100538939,
"ref": "T",
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"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_001385085.1"
}
]
}