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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: 1-11989226-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11989226&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11989226,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000235329.10",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "NM_014874.4",
"protein_id": "NP_055689.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 757,
"cds_start": 58,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 4407,
"mane_select": "ENST00000235329.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "ENST00000235329.10",
"protein_id": "ENSP00000235329.5",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 757,
"cds_start": 58,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 4407,
"mane_select": "NM_014874.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "ENST00000675298.1",
"protein_id": "ENSP00000501839.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 808,
"cds_start": 58,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 3584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "ENST00000675817.1",
"protein_id": "ENSP00000502422.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 801,
"cds_start": 58,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 4766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "NM_001127660.2",
"protein_id": "NP_001121132.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 757,
"cds_start": 58,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 4262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "ENST00000444836.5",
"protein_id": "ENSP00000416338.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 757,
"cds_start": 58,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "ENST00000674548.1",
"protein_id": "ENSP00000502185.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 757,
"cds_start": 58,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 4572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "ENST00000674817.1",
"protein_id": "ENSP00000502151.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 757,
"cds_start": 58,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "ENST00000674910.1",
"protein_id": "ENSP00000501716.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 757,
"cds_start": 58,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 4539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "ENST00000675053.1",
"protein_id": "ENSP00000501646.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 757,
"cds_start": 58,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 4555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "ENST00000675113.1",
"protein_id": "ENSP00000502623.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 757,
"cds_start": 58,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 4461,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "ENST00000675231.1",
"protein_id": "ENSP00000502404.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
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"cds_start": 58,
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"cds_length": 2274,
"cdna_start": 621,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "ENST00000675919.1",
"protein_id": "ENSP00000501776.1",
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"cdna_start": 338,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "MFN2",
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"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "ENST00000676293.1",
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"feature": null
},
{
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"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "ENST00000412236.2",
"protein_id": "ENSP00000412023.1",
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"aa_start": 20,
"aa_end": null,
"aa_length": 97,
"cds_start": 58,
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"cdna_start": 541,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "ENST00000675530.1",
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},
{
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"strand": true,
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],
"exon_rank": 4,
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"intron_rank": null,
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"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "ENST00000676369.1",
"protein_id": "ENSP00000502005.1",
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"aa_start": 20,
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"cdna_start": 545,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "ENST00000675781.1",
"protein_id": "ENSP00000501947.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
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"cds_start": 58,
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"cdna_start": 406,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
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"intron_rank": null,
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"gene_symbol": "MFN2",
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"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "XM_005263543.4",
"protein_id": "XP_005263600.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "MFN2",
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"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "XM_005263545.4",
"protein_id": "XP_005263602.1",
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},
{
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"strand": true,
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],
"exon_rank": 4,
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"intron_rank": null,
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"gene_symbol": "MFN2",
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"transcript": "XM_005263548.4",
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"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "XM_047436149.1",
"protein_id": "XP_047292105.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
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"cdna_start": 292,
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"cdna_length": 4451,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.His20Tyr",
"transcript": "XM_047436154.1",
"protein_id": "XP_047292110.1",
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{
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"clinvar_disease": "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",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:6 LB:2 B:1",
"phenotype_combined": "Hereditary motor and sensory neuropathy with optic atrophy|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease|Inborn genetic diseases|not provided|Optic atrophy",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}