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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: 14-45189246-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=45189246&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 45189246,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000267430.10",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5224A>G",
"hgvs_p": "p.Ile1742Val",
"transcript": "NM_020937.4",
"protein_id": "NP_065988.1",
"transcript_support_level": null,
"aa_start": 1742,
"aa_end": null,
"aa_length": 2048,
"cds_start": 5224,
"cds_end": null,
"cds_length": 6147,
"cdna_start": 5326,
"cdna_end": null,
"cdna_length": 7131,
"mane_select": "ENST00000267430.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5224A>G",
"hgvs_p": "p.Ile1742Val",
"transcript": "ENST00000267430.10",
"protein_id": "ENSP00000267430.5",
"transcript_support_level": 1,
"aa_start": 1742,
"aa_end": null,
"aa_length": 2048,
"cds_start": 5224,
"cds_end": null,
"cds_length": 6147,
"cdna_start": 5326,
"cdna_end": null,
"cdna_length": 7131,
"mane_select": "NM_020937.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5146A>G",
"hgvs_p": "p.Ile1716Val",
"transcript": "ENST00000542564.6",
"protein_id": "ENSP00000442493.2",
"transcript_support_level": 1,
"aa_start": 1716,
"aa_end": null,
"aa_length": 2022,
"cds_start": 5146,
"cds_end": null,
"cds_length": 6069,
"cdna_start": 5224,
"cdna_end": null,
"cdna_length": 6167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5017A>G",
"hgvs_p": "p.Ile1673Val",
"transcript": "ENST00000556250.6",
"protein_id": "ENSP00000452033.2",
"transcript_support_level": 1,
"aa_start": 1673,
"aa_end": null,
"aa_length": 1979,
"cds_start": 5017,
"cds_end": null,
"cds_length": 5940,
"cdna_start": 5119,
"cdna_end": null,
"cdna_length": 6924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5146A>G",
"hgvs_p": "p.Ile1716Val",
"transcript": "NM_001308133.2",
"protein_id": "NP_001295062.1",
"transcript_support_level": null,
"aa_start": 1716,
"aa_end": null,
"aa_length": 2022,
"cds_start": 5146,
"cds_end": null,
"cds_length": 6069,
"cdna_start": 5248,
"cdna_end": null,
"cdna_length": 7053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5068A>G",
"hgvs_p": "p.Ile1690Val",
"transcript": "ENST00000696649.1",
"protein_id": "ENSP00000512780.1",
"transcript_support_level": null,
"aa_start": 1690,
"aa_end": null,
"aa_length": 1996,
"cds_start": 5068,
"cds_end": null,
"cds_length": 5991,
"cdna_start": 5097,
"cdna_end": null,
"cdna_length": 6902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.4054A>G",
"hgvs_p": "p.Ile1352Val",
"transcript": "ENST00000696664.1",
"protein_id": "ENSP00000512790.1",
"transcript_support_level": null,
"aa_start": 1352,
"aa_end": null,
"aa_length": 1658,
"cds_start": 4054,
"cds_end": null,
"cds_length": 4977,
"cdna_start": 4056,
"cdna_end": null,
"cdna_length": 5812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.3436A>G",
"hgvs_p": "p.Ile1146Val",
"transcript": "ENST00000554809.6",
"protein_id": "ENSP00000450632.2",
"transcript_support_level": 2,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1487,
"cds_start": 3436,
"cds_end": null,
"cds_length": 4464,
"cdna_start": 3436,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.4039A>G",
"hgvs_p": "p.Ile1347Val",
"transcript": "ENST00000696684.1",
"protein_id": "ENSP00000512807.1",
"transcript_support_level": null,
"aa_start": 1347,
"aa_end": null,
"aa_length": 1401,
"cds_start": 4039,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 4041,
"cdna_end": null,
"cdna_length": 5178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.3220A>G",
"hgvs_p": "p.Ile1074Val",
"transcript": "ENST00000696659.1",
"protein_id": "ENSP00000512785.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1128,
"cds_start": 3220,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 3222,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1000A>G",
"hgvs_p": "p.Ile334Val",
"transcript": "ENST00000555484.2",
"protein_id": "ENSP00000450797.2",
"transcript_support_level": 3,
"aa_start": 334,
"aa_end": null,
"aa_length": 572,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1000A>G",
"hgvs_p": "p.Ile334Val",
"transcript": "ENST00000696665.1",
"protein_id": "ENSP00000512791.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 508,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5239A>G",
"hgvs_p": "p.Ile1747Val",
"transcript": "XM_011537034.3",
"protein_id": "XP_011535336.1",
"transcript_support_level": null,
"aa_start": 1747,
"aa_end": null,
"aa_length": 2053,
"cds_start": 5239,
"cds_end": null,
"cds_length": 6162,
"cdna_start": 5341,
"cdna_end": null,
"cdna_length": 7146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5161A>G",
"hgvs_p": "p.Ile1721Val",
"transcript": "XM_011537035.4",
"protein_id": "XP_011535337.1",
"transcript_support_level": null,
"aa_start": 1721,
"aa_end": null,
"aa_length": 2027,
"cds_start": 5161,
"cds_end": null,
"cds_length": 6084,
"cdna_start": 5263,
"cdna_end": null,
"cdna_length": 7068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5239A>G",
"hgvs_p": "p.Ile1747Val",
"transcript": "XM_017021523.2",
"protein_id": "XP_016877012.1",
"transcript_support_level": null,
"aa_start": 1747,
"aa_end": null,
"aa_length": 1801,
"cds_start": 5239,
"cds_end": null,
"cds_length": 5406,
"cdna_start": 5341,
"cdna_end": null,
"cdna_length": 6478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5239A>G",
"hgvs_p": "p.Ile1747Val",
"transcript": "XM_047431631.1",
"protein_id": "XP_047287587.1",
"transcript_support_level": null,
"aa_start": 1747,
"aa_end": null,
"aa_length": 1801,
"cds_start": 5239,
"cds_end": null,
"cds_length": 5406,
"cdna_start": 5341,
"cdna_end": null,
"cdna_length": 5651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5224A>G",
"hgvs_p": "p.Ile1742Val",
"transcript": "XM_047431632.1",
"protein_id": "XP_047287588.1",
"transcript_support_level": null,
"aa_start": 1742,
"aa_end": null,
"aa_length": 1796,
"cds_start": 5224,
"cds_end": null,
"cds_length": 5391,
"cdna_start": 5326,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5224A>G",
"hgvs_p": "p.Ile1742Val",
"transcript": "XM_047431633.1",
"protein_id": "XP_047287589.1",
"transcript_support_level": null,
"aa_start": 1742,
"aa_end": null,
"aa_length": 1796,
"cds_start": 5224,
"cds_end": null,
"cds_length": 5391,
"cdna_start": 5326,
"cdna_end": null,
"cdna_length": 5636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.4054A>G",
"hgvs_p": "p.Ile1352Val",
"transcript": "XM_047431634.1",
"protein_id": "XP_047287590.1",
"transcript_support_level": null,
"aa_start": 1352,
"aa_end": null,
"aa_length": 1658,
"cds_start": 4054,
"cds_end": null,
"cds_length": 4977,
"cdna_start": 4143,
"cdna_end": null,
"cdna_length": 5948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.3253A>G",
"hgvs_p": "p.Ile1085Val",
"transcript": "XM_011537037.4",
"protein_id": "XP_011535339.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1391,
"cds_start": 3253,
"cds_end": null,
"cds_length": 4176,
"cdna_start": 3812,
"cdna_end": null,
"cdna_length": 5617,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "n.1000A>G",
"hgvs_p": null,
"transcript": "ENST00000557110.2",
"protein_id": "ENSP00000451846.2",
"transcript_support_level": 5,
"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": 2090,
"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": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "n.*4035A>G",
"hgvs_p": null,
"transcript": "ENST00000696642.1",
"protein_id": "ENSP00000512775.1",
"transcript_support_level": null,
"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": 5246,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
"transcript": "ENST00000267430.10",
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],
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:5",
"phenotype_combined": "Fanconi anemia|not specified|not provided|Spermatogenic failure 28|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}