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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: 14-45167053-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=45167053&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 45167053,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000267430.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1892A>G",
"hgvs_p": "p.Asp631Gly",
"transcript": "NM_020937.4",
"protein_id": "NP_065988.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 2048,
"cds_start": 1892,
"cds_end": null,
"cds_length": 6147,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 7131,
"mane_select": "ENST00000267430.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1892A>G",
"hgvs_p": "p.Asp631Gly",
"transcript": "ENST00000267430.10",
"protein_id": "ENSP00000267430.5",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 2048,
"cds_start": 1892,
"cds_end": null,
"cds_length": 6147,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 7131,
"mane_select": "NM_020937.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1814A>G",
"hgvs_p": "p.Asp605Gly",
"transcript": "ENST00000542564.6",
"protein_id": "ENSP00000442493.2",
"transcript_support_level": 1,
"aa_start": 605,
"aa_end": null,
"aa_length": 2022,
"cds_start": 1814,
"cds_end": null,
"cds_length": 6069,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 6167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1685A>G",
"hgvs_p": "p.Asp562Gly",
"transcript": "ENST00000556250.6",
"protein_id": "ENSP00000452033.2",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 1979,
"cds_start": 1685,
"cds_end": null,
"cds_length": 5940,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 6924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1892A>G",
"hgvs_p": "p.Asp631Gly",
"transcript": "ENST00000556036.6",
"protein_id": "ENSP00000450596.1",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 669,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 3333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1814A>G",
"hgvs_p": "p.Asp605Gly",
"transcript": "NM_001308133.2",
"protein_id": "NP_001295062.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 2022,
"cds_start": 1814,
"cds_end": null,
"cds_length": 6069,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 7053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1892A>G",
"hgvs_p": "p.Asp631Gly",
"transcript": "ENST00000696649.1",
"protein_id": "ENSP00000512780.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1996,
"cds_start": 1892,
"cds_end": null,
"cds_length": 5991,
"cdna_start": 1921,
"cdna_end": null,
"cdna_length": 6902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Asp236Gly",
"transcript": "ENST00000696664.1",
"protein_id": "ENSP00000512790.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1658,
"cds_start": 707,
"cds_end": null,
"cds_length": 4977,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 5812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Asp236Gly",
"transcript": "ENST00000696683.1",
"protein_id": "ENSP00000512806.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1590,
"cds_start": 707,
"cds_end": null,
"cds_length": 4773,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Asp35Gly",
"transcript": "ENST00000554809.6",
"protein_id": "ENSP00000450632.2",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 1487,
"cds_start": 104,
"cds_end": null,
"cds_length": 4464,
"cdna_start": 104,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Asp236Gly",
"transcript": "ENST00000696684.1",
"protein_id": "ENSP00000512807.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1401,
"cds_start": 707,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 5178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.1733A>G",
"hgvs_p": "p.Asp578Gly",
"transcript": "ENST00000696641.1",
"protein_id": "ENSP00000512774.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 1353,
"cds_start": 1733,
"cds_end": null,
"cds_length": 4063,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1892A>G",
"hgvs_p": "p.Asp631Gly",
"transcript": "NM_001308134.2",
"protein_id": "NP_001295063.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 669,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1814A>G",
"hgvs_p": "p.Asp605Gly",
"transcript": "ENST00000696662.1",
"protein_id": "ENSP00000512788.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 643,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1892A>G",
"hgvs_p": "p.Asp631Gly",
"transcript": "XM_011537034.3",
"protein_id": "XP_011535336.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 2053,
"cds_start": 1892,
"cds_end": null,
"cds_length": 6162,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 7146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1814A>G",
"hgvs_p": "p.Asp605Gly",
"transcript": "XM_011537035.4",
"protein_id": "XP_011535337.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 2027,
"cds_start": 1814,
"cds_end": null,
"cds_length": 6084,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 7068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1892A>G",
"hgvs_p": "p.Asp631Gly",
"transcript": "XM_017021523.2",
"protein_id": "XP_016877012.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1801,
"cds_start": 1892,
"cds_end": null,
"cds_length": 5406,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 6478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1892A>G",
"hgvs_p": "p.Asp631Gly",
"transcript": "XM_047431631.1",
"protein_id": "XP_047287587.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1801,
"cds_start": 1892,
"cds_end": null,
"cds_length": 5406,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 5651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1892A>G",
"hgvs_p": "p.Asp631Gly",
"transcript": "XM_047431632.1",
"protein_id": "XP_047287588.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1796,
"cds_start": 1892,
"cds_end": null,
"cds_length": 5391,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1892A>G",
"hgvs_p": "p.Asp631Gly",
"transcript": "XM_047431633.1",
"protein_id": "XP_047287589.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1796,
"cds_start": 1892,
"cds_end": null,
"cds_length": 5391,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 5636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Asp236Gly",
"transcript": "XM_047431634.1",
"protein_id": "XP_047287590.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1658,
"cds_start": 707,
"cds_end": null,
"cds_length": 4977,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 5948,
"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": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "n.*703A>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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "n.*703A>G",
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"transcript": "ENST00000696646.1",
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}
],
"gene_symbol": "FANCM",
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"dbsnp": "rs753713103",
"frequency_reference_population": 0.000019717385,
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"allele_count_reference_population": 3,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.0000197174,
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"gnomad_genomes_ac": 3,
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"gnomad_genomes_homalt": 0,
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"computational_score_selected": 0.21055150032043457,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.076,
"revel_prediction": "Benign",
"alphamissense_score": 0.1308,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.325,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000267430.10",
"gene_symbol": "FANCM",
"hgnc_id": 23168,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1892A>G",
"hgvs_p": "p.Asp631Gly"
}
],
"clinvar_disease": "Fanconi anemia,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Fanconi anemia|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}