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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: 8-38402580-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38402580&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 38402580,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000379957.9",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Cys347Tyr",
"transcript": "NM_001286819.2",
"protein_id": "NP_001273748.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 491,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": "ENST00000379957.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Cys347Tyr",
"transcript": "ENST00000379957.9",
"protein_id": "ENSP00000369291.4",
"transcript_support_level": 5,
"aa_start": 347,
"aa_end": null,
"aa_length": 491,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": "NM_001286819.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Cys300Tyr",
"transcript": "ENST00000523983.6",
"protein_id": "ENSP00000428765.2",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 444,
"cds_start": 899,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Cys133Tyr",
"transcript": "ENST00000527710.5",
"protein_id": "ENSP00000434867.1",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 277,
"cds_start": 398,
"cds_end": null,
"cds_length": 834,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1261,
"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": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "n.*445G>A",
"hgvs_p": null,
"transcript": "ENST00000523268.6",
"protein_id": "ENSP00000428944.2",
"transcript_support_level": 1,
"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": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "n.*445G>A",
"hgvs_p": null,
"transcript": "ENST00000523268.6",
"protein_id": "ENSP00000428944.2",
"transcript_support_level": 1,
"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": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Cys300Tyr",
"transcript": "NM_001199659.3",
"protein_id": "NP_001186588.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 444,
"cds_start": 899,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.896G>A",
"hgvs_p": "p.Cys299Tyr",
"transcript": "NM_001330515.2",
"protein_id": "NP_001317444.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 443,
"cds_start": 896,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.896G>A",
"hgvs_p": "p.Cys299Tyr",
"transcript": "ENST00000524874.5",
"protein_id": "ENSP00000431211.1",
"transcript_support_level": 5,
"aa_start": 299,
"aa_end": null,
"aa_length": 443,
"cds_start": 896,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Cys252Tyr",
"transcript": "NM_144652.4",
"protein_id": "NP_653253.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 396,
"cds_start": 755,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Cys252Tyr",
"transcript": "ENST00000297720.9",
"protein_id": "ENSP00000297720.5",
"transcript_support_level": 2,
"aa_start": 252,
"aa_end": null,
"aa_length": 396,
"cds_start": 755,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Cys166Tyr",
"transcript": "NM_001363204.1",
"protein_id": "NP_001350133.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 310,
"cds_start": 497,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 2979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Cys144Tyr",
"transcript": "NM_001199660.3",
"protein_id": "NP_001186589.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 288,
"cds_start": 431,
"cds_end": null,
"cds_length": 867,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Cys144Tyr",
"transcript": "NM_001286787.2",
"protein_id": "NP_001273716.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 288,
"cds_start": 431,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Cys144Tyr",
"transcript": "NM_001363205.1",
"protein_id": "NP_001350134.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 288,
"cds_start": 431,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Cys347Tyr",
"transcript": "XM_017013051.2",
"protein_id": "XP_016868540.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 491,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Cys347Tyr",
"transcript": "XM_017013052.2",
"protein_id": "XP_016868541.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 491,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Cys347Tyr",
"transcript": "XM_017013053.2",
"protein_id": "XP_016868542.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 491,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 4845,
"cdna_end": null,
"cdna_length": 6534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Cys347Tyr",
"transcript": "XM_017013054.2",
"protein_id": "XP_016868543.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 491,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Cys347Tyr",
"transcript": "XM_017013055.2",
"protein_id": "XP_016868544.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 491,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Cys347Tyr",
"transcript": "XM_017013056.2",
"protein_id": "XP_016868545.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 491,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Cys347Tyr",
"transcript": "XM_047421383.1",
"protein_id": "XP_047277339.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 437,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
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{
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}
],
"message": null
}