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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: 1-12002069-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=12002069&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 12002069,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014874.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "NM_014874.4",
"protein_id": "NP_055689.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 757,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 4407,
"mane_select": "ENST00000235329.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "ENST00000235329.10",
"protein_id": "ENSP00000235329.5",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 757,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 4407,
"mane_select": "NM_014874.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "ENST00000675298.1",
"protein_id": "ENSP00000501839.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 808,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 3584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "ENST00000675817.1",
"protein_id": "ENSP00000502422.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 801,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 4766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "NM_001127660.2",
"protein_id": "NP_001121132.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 757,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 4262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "ENST00000444836.5",
"protein_id": "ENSP00000416338.1",
"transcript_support_level": 2,
"aa_start": 376,
"aa_end": null,
"aa_length": 757,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "ENST00000674548.1",
"protein_id": "ENSP00000502185.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 757,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 4572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "ENST00000674817.1",
"protein_id": "ENSP00000502151.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 757,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "ENST00000674910.1",
"protein_id": "ENSP00000501716.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 757,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 4539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "ENST00000675053.1",
"protein_id": "ENSP00000501646.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 757,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 4555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "ENST00000675113.1",
"protein_id": "ENSP00000502623.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 757,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 4461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "ENST00000675231.1",
"protein_id": "ENSP00000502404.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 757,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 4772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "ENST00000675919.1",
"protein_id": "ENSP00000501776.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 757,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "ENST00000676293.1",
"protein_id": "ENSP00000502362.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 757,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 4529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.781A>G",
"hgvs_p": "p.Met261Val",
"transcript": "ENST00000674658.1",
"protein_id": "ENSP00000502334.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 642,
"cds_start": 781,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 4320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "XM_005263543.4",
"protein_id": "XP_005263600.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 757,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "XM_005263545.4",
"protein_id": "XP_005263602.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 757,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 4403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "XM_005263548.4",
"protein_id": "XP_005263605.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 757,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "XM_047436149.1",
"protein_id": "XP_047292105.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 757,
"cds_start": 1126,
"cds_end": null,
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"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 4451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val",
"transcript": "XM_047436154.1",
"protein_id": "XP_047292110.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 757,
"cds_start": 1126,
"cds_end": null,
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"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.838A>G",
"hgvs_p": "p.Met280Val",
"transcript": "XM_047436156.1",
"protein_id": "XP_047292112.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 661,
"cds_start": 838,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "n.1551A>G",
"hgvs_p": null,
"transcript": "ENST00000675194.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "n.1361A>G",
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}
],
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"dbsnp": "rs863224967",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
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"gnomad_exomes_ac": null,
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"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.9648454785346985,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.794,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3315,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.947,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 19,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 19,
"benign_score": 0,
"pathogenic_score": 19,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_014874.4",
"gene_symbol": "MFN2",
"hgnc_id": 16877,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Met376Val"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 2,Charcot-Marie-Tooth disease type 2A2,Hereditary motor and sensory neuropathy with optic atrophy,Inborn genetic diseases,MFN2-related disorder,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:2",
"phenotype_combined": "Charcot-Marie-Tooth disease type 2|Hereditary motor and sensory neuropathy with optic atrophy|not provided|Charcot-Marie-Tooth disease type 2A2|Inborn genetic diseases|MFN2-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}