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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: 1-12001426-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=12001426&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 12001426,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000235329.10",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "NM_014874.4",
"protein_id": "NP_055689.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 757,
"cds_start": 842,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 4407,
"mane_select": "ENST00000235329.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "ENST00000235329.10",
"protein_id": "ENSP00000235329.5",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 757,
"cds_start": 842,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 4407,
"mane_select": "NM_014874.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "ENST00000675298.1",
"protein_id": "ENSP00000501839.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 808,
"cds_start": 842,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 3584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "ENST00000675817.1",
"protein_id": "ENSP00000502422.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 801,
"cds_start": 842,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 4766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "NM_001127660.2",
"protein_id": "NP_001121132.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 757,
"cds_start": 842,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 4262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "ENST00000444836.5",
"protein_id": "ENSP00000416338.1",
"transcript_support_level": 2,
"aa_start": 281,
"aa_end": null,
"aa_length": 757,
"cds_start": 842,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "ENST00000674548.1",
"protein_id": "ENSP00000502185.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 757,
"cds_start": 842,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 4572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "ENST00000674817.1",
"protein_id": "ENSP00000502151.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 757,
"cds_start": 842,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "ENST00000674910.1",
"protein_id": "ENSP00000501716.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 757,
"cds_start": 842,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 4539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "ENST00000675053.1",
"protein_id": "ENSP00000501646.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 757,
"cds_start": 842,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 4555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "ENST00000675113.1",
"protein_id": "ENSP00000502623.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 757,
"cds_start": 842,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 4461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "ENST00000675231.1",
"protein_id": "ENSP00000502404.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 757,
"cds_start": 842,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 4772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "ENST00000675919.1",
"protein_id": "ENSP00000501776.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 757,
"cds_start": 842,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "ENST00000676293.1",
"protein_id": "ENSP00000502362.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 757,
"cds_start": 842,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 4529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.497G>C",
"hgvs_p": "p.Cys166Ser",
"transcript": "ENST00000674658.1",
"protein_id": "ENSP00000502334.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 642,
"cds_start": 497,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 4320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "XM_005263543.4",
"protein_id": "XP_005263600.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 757,
"cds_start": 842,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "XM_005263545.4",
"protein_id": "XP_005263602.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 757,
"cds_start": 842,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 4403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "XM_005263548.4",
"protein_id": "XP_005263605.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 757,
"cds_start": 842,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "XM_047436149.1",
"protein_id": "XP_047292105.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 757,
"cds_start": 842,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 4451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser",
"transcript": "XM_047436154.1",
"protein_id": "XP_047292110.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 757,
"cds_start": 842,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.554G>C",
"hgvs_p": "p.Cys185Ser",
"transcript": "XM_047436156.1",
"protein_id": "XP_047292112.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 661,
"cds_start": 554,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 939,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "n.1267G>C",
"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": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "n.1077G>C",
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],
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"dbsnp": "rs147136530",
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"hom_count_reference_population": 2,
"allele_count_reference_population": 358,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.35620707273483276,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.822,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3855,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.602,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,PP2,PP3,BP4,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 10,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PP2",
"PP3",
"BP4",
"BP6",
"BS1",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000235329.10",
"gene_symbol": "MFN2",
"hgnc_id": 16877,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Cys281Ser"
}
],
"clinvar_disease": " autosomal recessive, axonal, type 2a2b,Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease type 2,Hereditary motor and sensory neuropathy with optic atrophy,Inborn genetic diseases,Optic atrophy,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:9 LB:3",
"phenotype_combined": "not specified|Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;|Charcot-Marie-Tooth disease type 2|Inborn genetic diseases|not provided|Charcot-Marie-Tooth disease|Optic atrophy",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}