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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: 1-11981920-GTT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11981920&ref=GTT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11981920,
"ref": "GTT",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_014874.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-149-39_-149-38delTT",
"hgvs_p": null,
"transcript": "NM_014874.4",
"protein_id": "NP_055689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4407,
"mane_select": "ENST00000235329.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-149-39_-149-38delTT",
"hgvs_p": null,
"transcript": "ENST00000235329.10",
"protein_id": "ENSP00000235329.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4407,
"mane_select": "NM_014874.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-256_-255delTT",
"hgvs_p": null,
"transcript": "ENST00000675231.1",
"protein_id": "ENSP00000502404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-188_-187delTT",
"hgvs_p": null,
"transcript": "ENST00000675781.1",
"protein_id": "ENSP00000501947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 70,
"cds_start": -4,
"cds_end": null,
"cds_length": 215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-149-39_-149-38delTT",
"hgvs_p": null,
"transcript": "ENST00000675298.1",
"protein_id": "ENSP00000501839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 808,
"cds_start": -4,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-149-39_-149-38delTT",
"hgvs_p": null,
"transcript": "ENST00000675817.1",
"protein_id": "ENSP00000502422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": -4,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-5+1447_-5+1448delTT",
"hgvs_p": null,
"transcript": "NM_001127660.2",
"protein_id": "NP_001121132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-5+1447_-5+1448delTT",
"hgvs_p": null,
"transcript": "ENST00000444836.5",
"protein_id": "ENSP00000416338.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-95+1447_-95+1448delTT",
"hgvs_p": null,
"transcript": "ENST00000674548.1",
"protein_id": "ENSP00000502185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-5+1447_-5+1448delTT",
"hgvs_p": null,
"transcript": "ENST00000674817.1",
"protein_id": "ENSP00000502151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-127+1447_-127+1448delTT",
"hgvs_p": null,
"transcript": "ENST00000674910.1",
"protein_id": "ENSP00000501716.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
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"cds_length": 2274,
"cdna_start": null,
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"cdna_length": 4539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-52-136_-52-135delTT",
"hgvs_p": null,
"transcript": "ENST00000675053.1",
"protein_id": "ENSP00000501646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
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"cds_length": 2274,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-211-39_-211-38delTT",
"hgvs_p": null,
"transcript": "ENST00000675113.1",
"protein_id": "ENSP00000502623.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 757,
"cds_start": -4,
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"cdna_start": null,
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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": null,
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"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-239-39_-239-38delTT",
"hgvs_p": null,
"transcript": "ENST00000675919.1",
"protein_id": "ENSP00000501776.1",
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},
{
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"strand": true,
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"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-271-39_-271-38delTT",
"hgvs_p": null,
"transcript": "ENST00000676293.1",
"protein_id": "ENSP00000502362.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 1,
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"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-247-39_-247-38delTT",
"hgvs_p": null,
"transcript": "ENST00000674658.1",
"protein_id": "ENSP00000502334.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-213-43_-213-42delTT",
"hgvs_p": null,
"transcript": "ENST00000412236.2",
"protein_id": "ENSP00000412023.1",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-145-43_-145-42delTT",
"hgvs_p": null,
"transcript": "ENST00000675530.1",
"protein_id": "ENSP00000501972.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "c.-217-39_-217-38delTT",
"hgvs_p": null,
"transcript": "ENST00000676369.1",
"protein_id": "ENSP00000502005.1",
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},
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"strand": true,
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],
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"intron_rank_end": null,
"gene_symbol": "MFN2",
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"hgvs_c": "n.115+1447_115+1448delTT",
"hgvs_p": null,
"transcript": "ENST00000484391.5",
"protein_id": null,
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},
{
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"strand": true,
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],
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"intron_rank_end": null,
"gene_symbol": "MFN2",
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"hgvs_c": "n.231-39_231-38delTT",
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"transcript": "ENST00000490079.5",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "n.-149-39_-149-38delTT",
"hgvs_p": null,
"transcript": "ENST00000497302.1",
"protein_id": "ENSP00000502511.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFN2",
"gene_hgnc_id": 16877,
"hgvs_c": "n.227-43_227-42delTT",
"hgvs_p": null,
"transcript": "ENST00000674706.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"cdna_start": null,
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