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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: 1-11998864-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11998864&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MFN2",
"hgnc_id": 16877,
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_014874.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Moderate",
"acmg_score": 9,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9252,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.51,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Charcot-Marie-Tooth disease",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9195012450218201,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 757,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4407,
"cdna_start": 884,
"cds_end": null,
"cds_length": 2274,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_014874.4",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000235329.10",
"protein_coding": true,
"protein_id": "NP_055689.1",
"strand": true,
"transcript": "NM_014874.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 757,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4407,
"cdna_start": 884,
"cds_end": null,
"cds_length": 2274,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000235329.10",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014874.4",
"protein_coding": true,
"protein_id": "ENSP00000235329.5",
"strand": true,
"transcript": "ENST00000235329.10",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 808,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3584,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 2427,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000675298.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501839.1",
"strand": true,
"transcript": "ENST00000675298.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 801,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4766,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 2406,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000675817.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502422.1",
"strand": true,
"transcript": "ENST00000675817.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 801,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4623,
"cdna_start": 977,
"cds_end": null,
"cds_length": 2406,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898895.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568954.1",
"strand": true,
"transcript": "ENST00000898895.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 801,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4521,
"cdna_start": 868,
"cds_end": null,
"cds_length": 2406,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000967404.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637463.1",
"strand": true,
"transcript": "ENST00000967404.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 801,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 948,
"cds_end": null,
"cds_length": 2406,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000967417.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637476.1",
"strand": true,
"transcript": "ENST00000967417.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 787,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4684,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 2364,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898885.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568944.1",
"strand": true,
"transcript": "ENST00000898885.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 757,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4262,
"cdna_start": 739,
"cds_end": null,
"cds_length": 2274,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001127660.2",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121132.1",
"strand": true,
"transcript": "NM_001127660.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 757,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4531,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 2274,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000444836.5",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416338.1",
"strand": true,
"transcript": "ENST00000444836.5",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 757,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4572,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 2274,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000674548.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502185.1",
"strand": true,
"transcript": "ENST00000674548.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 757,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4514,
"cdna_start": 994,
"cds_end": null,
"cds_length": 2274,
"cds_start": 694,
"consequences": [
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],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000674817.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502151.1",
"strand": true,
"transcript": "ENST00000674817.1",
"transcript_support_level": null
},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4539,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 2274,
"cds_start": 694,
"consequences": [
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],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000674910.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501716.1",
"strand": true,
"transcript": "ENST00000674910.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 757,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4555,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 2274,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000675053.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501646.1",
"strand": true,
"transcript": "ENST00000675053.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4461,
"cdna_start": 946,
"cds_end": null,
"cds_length": 2274,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000675113.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502623.1",
"strand": true,
"transcript": "ENST00000675113.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 757,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4772,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 2274,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000675231.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502404.1",
"strand": true,
"transcript": "ENST00000675231.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 757,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4497,
"cdna_start": 974,
"cds_end": null,
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"consequences": [
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],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000675919.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501776.1",
"strand": true,
"transcript": "ENST00000675919.1",
"transcript_support_level": null
},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_start": 1006,
"cds_end": null,
"cds_length": 2274,
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"consequences": [
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],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000676293.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502362.1",
"strand": true,
"transcript": "ENST00000676293.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4609,
"cdna_start": 1086,
"cds_end": null,
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"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898883.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568942.1",
"strand": true,
"transcript": "ENST00000898883.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 757,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4513,
"cdna_start": 988,
"cds_end": null,
"cds_length": 2274,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898886.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568945.1",
"strand": true,
"transcript": "ENST00000898886.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 757,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4640,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 2274,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898887.1",
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