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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: 3-179365192-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=179365192&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MFN1",
"hgnc_id": 18262,
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_033540.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9615,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.56,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8811272978782654,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 741,
"aa_ref": "D",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5212,
"cdna_start": 829,
"cds_end": null,
"cds_length": 2226,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_033540.3",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000471841.6",
"protein_coding": true,
"protein_id": "NP_284941.2",
"strand": true,
"transcript": "NM_033540.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 741,
"aa_ref": "D",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5212,
"cdna_start": 829,
"cds_end": null,
"cds_length": 2226,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000471841.6",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033540.3",
"protein_coding": true,
"protein_id": "ENSP00000420617.1",
"strand": true,
"transcript": "ENST00000471841.6",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 741,
"aa_ref": "D",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 811,
"cds_end": null,
"cds_length": 2226,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000263969.9",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000263969.5",
"strand": true,
"transcript": "ENST00000263969.9",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 493,
"aa_ref": "D",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": 309,
"cds_end": null,
"cds_length": 1482,
"cds_start": 309,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000474903.1",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.309T>A",
"hgvs_p": "p.Asp103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419926.1",
"strand": true,
"transcript": "ENST00000474903.1",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 741,
"aa_ref": "D",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5418,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 2226,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000897667.1",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567726.1",
"strand": true,
"transcript": "ENST00000897667.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 741,
"aa_ref": "D",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4262,
"cdna_start": 846,
"cds_end": null,
"cds_length": 2226,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000897668.1",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567727.1",
"strand": true,
"transcript": "ENST00000897668.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 741,
"aa_ref": "D",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3563,
"cdna_start": 890,
"cds_end": null,
"cds_length": 2226,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000897670.1",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567729.1",
"strand": true,
"transcript": "ENST00000897670.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 741,
"aa_ref": "D",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3234,
"cdna_start": 826,
"cds_end": null,
"cds_length": 2226,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000897671.1",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567730.1",
"strand": true,
"transcript": "ENST00000897671.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 741,
"aa_ref": "D",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5256,
"cdna_start": 869,
"cds_end": null,
"cds_length": 2226,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000931925.1",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601984.1",
"strand": true,
"transcript": "ENST00000931925.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 741,
"aa_ref": "D",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3409,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 2226,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000969612.1",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639671.1",
"strand": true,
"transcript": "ENST00000969612.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 741,
"aa_ref": "D",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3546,
"cdna_start": 887,
"cds_end": null,
"cds_length": 2226,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000969614.1",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639673.1",
"strand": true,
"transcript": "ENST00000969614.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 741,
"aa_ref": "D",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": 852,
"cds_end": null,
"cds_length": 2226,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000969617.1",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639676.1",
"strand": true,
"transcript": "ENST00000969617.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 741,
"aa_ref": "D",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3493,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 2226,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000969618.1",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639677.1",
"strand": true,
"transcript": "ENST00000969618.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 739,
"aa_ref": "D",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3482,
"cdna_start": 814,
"cds_end": null,
"cds_length": 2220,
"cds_start": 714,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000931926.1",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.714T>A",
"hgvs_p": "p.Asp238Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601985.1",
"strand": true,
"transcript": "ENST00000931926.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 696,
"aa_ref": "D",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3089,
"cdna_start": 815,
"cds_end": null,
"cds_length": 2091,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000969616.1",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639675.1",
"strand": true,
"transcript": "ENST00000969616.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 658,
"aa_ref": "D",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 815,
"cds_end": null,
"cds_length": 1977,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000969619.1",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639678.1",
"strand": true,
"transcript": "ENST00000969619.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 623,
"aa_ref": "D",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3150,
"cdna_start": 831,
"cds_end": null,
"cds_length": 1872,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000969613.1",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639672.1",
"strand": true,
"transcript": "ENST00000969613.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 595,
"aa_ref": "D",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3064,
"cdna_start": 829,
"cds_end": null,
"cds_length": 1788,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000897669.1",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567728.1",
"strand": true,
"transcript": "ENST00000897669.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 595,
"aa_ref": "D",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2800,
"cdna_start": 834,
"cds_end": null,
"cds_length": 1788,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000969615.1",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639674.1",
"strand": true,
"transcript": "ENST00000969615.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 123,
"aa_ref": "D",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 543,
"cdna_start": 450,
"cds_end": null,
"cds_length": 372,
"cds_start": 279,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000489329.5",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.279T>A",
"hgvs_p": "p.Asp93Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420148.1",
"strand": true,
"transcript": "ENST00000489329.5",
"transcript_support_level": 4
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 741,
"aa_ref": "D",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5209,
"cdna_start": 826,
"cds_end": null,
"cds_length": 2226,
"cds_start": 720,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005247596.5",
"gene_hgnc_id": 18262,
"gene_symbol": "MFN1",
"hgvs_c": "c.720T>A",
"hgvs_p": "p.Asp240Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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}
]
}