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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: 1-11992606-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11992606&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11992606,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014874.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "NM_014874.4",
"protein_id": "NP_055689.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 757,
"cds_start": 227,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 4407,
"mane_select": "ENST00000235329.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014874.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000235329.10",
"protein_id": "ENSP00000235329.5",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 757,
"cds_start": 227,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 4407,
"mane_select": "NM_014874.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000235329.10"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000675298.1",
"protein_id": "ENSP00000501839.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 808,
"cds_start": 227,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 3584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675298.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000675817.1",
"protein_id": "ENSP00000502422.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 801,
"cds_start": 227,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 4766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675817.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000898895.1",
"protein_id": "ENSP00000568954.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 801,
"cds_start": 227,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 4623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898895.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000967404.1",
"protein_id": "ENSP00000637463.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 801,
"cds_start": 227,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 4521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967404.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000967417.1",
"protein_id": "ENSP00000637476.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 801,
"cds_start": 227,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967417.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000898885.1",
"protein_id": "ENSP00000568944.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 787,
"cds_start": 227,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 4684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898885.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "NM_001127660.2",
"protein_id": "NP_001121132.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 757,
"cds_start": 227,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 4262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127660.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000444836.5",
"protein_id": "ENSP00000416338.1",
"transcript_support_level": 2,
"aa_start": 76,
"aa_end": null,
"aa_length": 757,
"cds_start": 227,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444836.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000674548.1",
"protein_id": "ENSP00000502185.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 757,
"cds_start": 227,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 4572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674548.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000674817.1",
"protein_id": "ENSP00000502151.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 757,
"cds_start": 227,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674817.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000674910.1",
"protein_id": "ENSP00000501716.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 757,
"cds_start": 227,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 4539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674910.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000675053.1",
"protein_id": "ENSP00000501646.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 757,
"cds_start": 227,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 4555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675053.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000675113.1",
"protein_id": "ENSP00000502623.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 757,
"cds_start": 227,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 4461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675113.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000675231.1",
"protein_id": "ENSP00000502404.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 757,
"cds_start": 227,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 4772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675231.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000675919.1",
"protein_id": "ENSP00000501776.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 757,
"cds_start": 227,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675919.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000676293.1",
"protein_id": "ENSP00000502362.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 757,
"cds_start": 227,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 4529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676293.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000898883.1",
"protein_id": "ENSP00000568942.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 757,
"cds_start": 227,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 4609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898883.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000898886.1",
"protein_id": "ENSP00000568945.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 757,
"cds_start": 227,
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"cdna_start": 521,
"cdna_end": null,
"cdna_length": 4513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898886.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000898887.1",
"protein_id": "ENSP00000568946.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 757,
"cds_start": 227,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 4640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898887.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Leu76Pro",
"transcript": "ENST00000898888.1",
"protein_id": "ENSP00000568947.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 757,
"cds_start": 227,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 551,
"cdna_end": null,
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "Charcot-Marie-Tooth disease type 2A2|not provided|Charcot-Marie-Tooth disease type 2",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
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}