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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: 12-6385280-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6385280&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6385280,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001414303.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Arg125Gly",
"transcript": "NM_002342.3",
"protein_id": "NP_002333.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 435,
"cds_start": 373,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000228918.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002342.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Arg125Gly",
"transcript": "ENST00000228918.9",
"protein_id": "ENSP00000228918.4",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 435,
"cds_start": 373,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002342.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228918.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Arg125Gly",
"transcript": "NM_001414303.1",
"protein_id": "NP_001401232.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 487,
"cds_start": 373,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414303.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Arg125Gly",
"transcript": "ENST00000884044.1",
"protein_id": "ENSP00000554103.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 487,
"cds_start": 373,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884044.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.454C>G",
"hgvs_p": "p.Arg152Gly",
"transcript": "NM_001414304.1",
"protein_id": "NP_001401233.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 462,
"cds_start": 454,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414304.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.454C>G",
"hgvs_p": "p.Arg152Gly",
"transcript": "ENST00000957634.1",
"protein_id": "ENSP00000627693.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 462,
"cds_start": 454,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957634.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Arg125Gly",
"transcript": "NM_001414305.1",
"protein_id": "NP_001401234.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 455,
"cds_start": 373,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414305.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Arg125Gly",
"transcript": "ENST00000957632.1",
"protein_id": "ENSP00000627691.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 455,
"cds_start": 373,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957632.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Arg125Gly",
"transcript": "NM_001414306.1",
"protein_id": "NP_001401235.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 449,
"cds_start": 373,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414306.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Arg125Gly",
"transcript": "ENST00000884046.1",
"protein_id": "ENSP00000554105.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 449,
"cds_start": 373,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884046.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Arg125Gly",
"transcript": "NM_001414307.1",
"protein_id": "NP_001401236.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 433,
"cds_start": 373,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414307.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Arg125Gly",
"transcript": "ENST00000884047.1",
"protein_id": "ENSP00000554106.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 433,
"cds_start": 373,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884047.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.358C>G",
"hgvs_p": "p.Arg120Gly",
"transcript": "NM_001414308.1",
"protein_id": "NP_001401237.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 430,
"cds_start": 358,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414308.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.358C>G",
"hgvs_p": "p.Arg120Gly",
"transcript": "ENST00000884045.1",
"protein_id": "ENSP00000554104.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 430,
"cds_start": 358,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884045.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.316C>G",
"hgvs_p": "p.Arg106Gly",
"transcript": "NM_001270987.2",
"protein_id": "NP_001257916.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 416,
"cds_start": 316,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270987.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.316C>G",
"hgvs_p": "p.Arg106Gly",
"transcript": "ENST00000539925.5",
"protein_id": "ENSP00000440875.1",
"transcript_support_level": 2,
"aa_start": 106,
"aa_end": null,
"aa_length": 416,
"cds_start": 316,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539925.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.316C>G",
"hgvs_p": "p.Arg106Gly",
"transcript": "NM_001414309.1",
"protein_id": "NP_001401238.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 414,
"cds_start": 316,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414309.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Arg125Gly",
"transcript": "ENST00000957633.1",
"protein_id": "ENSP00000627692.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 413,
"cds_start": 373,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957633.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Arg125Gly",
"transcript": "ENST00000957630.1",
"protein_id": "ENSP00000627689.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 406,
"cds_start": 373,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957630.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Arg125Gly",
"transcript": "NM_001414310.1",
"protein_id": "NP_001401239.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 399,
"cds_start": 373,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414310.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Arg125Gly",
"transcript": "ENST00000957635.1",
"protein_id": "ENSP00000627694.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 370,
"cds_start": 373,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957635.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "LTBR",
"gene_hgnc_id": 6718,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Arg125Gly",
"transcript": "NM_001414311.1",
"protein_id": "NP_001401240.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 350,
"cds_start": 373,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414311.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}