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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: 14-45175512-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=45175512&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 45175512,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000267430.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.2758C>T",
"hgvs_p": "p.Pro920Ser",
"transcript": "NM_020937.4",
"protein_id": "NP_065988.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 2048,
"cds_start": 2758,
"cds_end": null,
"cds_length": 6147,
"cdna_start": 2860,
"cdna_end": null,
"cdna_length": 7131,
"mane_select": "ENST00000267430.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.2758C>T",
"hgvs_p": "p.Pro920Ser",
"transcript": "ENST00000267430.10",
"protein_id": "ENSP00000267430.5",
"transcript_support_level": 1,
"aa_start": 920,
"aa_end": null,
"aa_length": 2048,
"cds_start": 2758,
"cds_end": null,
"cds_length": 6147,
"cdna_start": 2860,
"cdna_end": null,
"cdna_length": 7131,
"mane_select": "NM_020937.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.2680C>T",
"hgvs_p": "p.Pro894Ser",
"transcript": "ENST00000542564.6",
"protein_id": "ENSP00000442493.2",
"transcript_support_level": 1,
"aa_start": 894,
"aa_end": null,
"aa_length": 2022,
"cds_start": 2680,
"cds_end": null,
"cds_length": 6069,
"cdna_start": 2758,
"cdna_end": null,
"cdna_length": 6167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.2551C>T",
"hgvs_p": "p.Pro851Ser",
"transcript": "ENST00000556250.6",
"protein_id": "ENSP00000452033.2",
"transcript_support_level": 1,
"aa_start": 851,
"aa_end": null,
"aa_length": 1979,
"cds_start": 2551,
"cds_end": null,
"cds_length": 5940,
"cdna_start": 2653,
"cdna_end": null,
"cdna_length": 6924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.2680C>T",
"hgvs_p": "p.Pro894Ser",
"transcript": "NM_001308133.2",
"protein_id": "NP_001295062.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 2022,
"cds_start": 2680,
"cds_end": null,
"cds_length": 6069,
"cdna_start": 2782,
"cdna_end": null,
"cdna_length": 7053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.2602C>T",
"hgvs_p": "p.Pro868Ser",
"transcript": "ENST00000696649.1",
"protein_id": "ENSP00000512780.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1996,
"cds_start": 2602,
"cds_end": null,
"cds_length": 5991,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 6902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1573C>T",
"hgvs_p": "p.Pro525Ser",
"transcript": "ENST00000696664.1",
"protein_id": "ENSP00000512790.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 1658,
"cds_start": 1573,
"cds_end": null,
"cds_length": 4977,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 5812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1573C>T",
"hgvs_p": "p.Pro525Ser",
"transcript": "ENST00000696683.1",
"protein_id": "ENSP00000512806.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 1590,
"cds_start": 1573,
"cds_end": null,
"cds_length": 4773,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Pro324Ser",
"transcript": "ENST00000554809.6",
"protein_id": "ENSP00000450632.2",
"transcript_support_level": 2,
"aa_start": 324,
"aa_end": null,
"aa_length": 1487,
"cds_start": 970,
"cds_end": null,
"cds_length": 4464,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1573C>T",
"hgvs_p": "p.Pro525Ser",
"transcript": "ENST00000696684.1",
"protein_id": "ENSP00000512807.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 1401,
"cds_start": 1573,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 5178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.2599C>T",
"hgvs_p": "p.Pro867Ser",
"transcript": "ENST00000696641.1",
"protein_id": "ENSP00000512774.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1353,
"cds_start": 2599,
"cds_end": null,
"cds_length": 4063,
"cdna_start": 2701,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Pro252Ser",
"transcript": "ENST00000696659.1",
"protein_id": "ENSP00000512785.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 1128,
"cds_start": 754,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.2758C>T",
"hgvs_p": "p.Pro920Ser",
"transcript": "XM_011537034.3",
"protein_id": "XP_011535336.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 2053,
"cds_start": 2758,
"cds_end": null,
"cds_length": 6162,
"cdna_start": 2860,
"cdna_end": null,
"cdna_length": 7146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.2680C>T",
"hgvs_p": "p.Pro894Ser",
"transcript": "XM_011537035.4",
"protein_id": "XP_011535337.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 2027,
"cds_start": 2680,
"cds_end": null,
"cds_length": 6084,
"cdna_start": 2782,
"cdna_end": null,
"cdna_length": 7068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.2758C>T",
"hgvs_p": "p.Pro920Ser",
"transcript": "XM_017021523.2",
"protein_id": "XP_016877012.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1801,
"cds_start": 2758,
"cds_end": null,
"cds_length": 5406,
"cdna_start": 2860,
"cdna_end": null,
"cdna_length": 6478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.2758C>T",
"hgvs_p": "p.Pro920Ser",
"transcript": "XM_047431631.1",
"protein_id": "XP_047287587.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1801,
"cds_start": 2758,
"cds_end": null,
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"cdna_start": 2860,
"cdna_end": null,
"cdna_length": 5651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.2758C>T",
"hgvs_p": "p.Pro920Ser",
"transcript": "XM_047431632.1",
"protein_id": "XP_047287588.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1796,
"cds_start": 2758,
"cds_end": null,
"cds_length": 5391,
"cdna_start": 2860,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.2758C>T",
"hgvs_p": "p.Pro920Ser",
"transcript": "XM_047431633.1",
"protein_id": "XP_047287589.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1796,
"cds_start": 2758,
"cds_end": null,
"cds_length": 5391,
"cdna_start": 2860,
"cdna_end": null,
"cdna_length": 5636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1573C>T",
"hgvs_p": "p.Pro525Ser",
"transcript": "XM_047431634.1",
"protein_id": "XP_047287590.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 1658,
"cds_start": 1573,
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"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 5948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Pro258Ser",
"transcript": "XM_011537037.4",
"protein_id": "XP_011535339.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 1391,
"cds_start": 772,
"cds_end": null,
"cds_length": 4176,
"cdna_start": 1331,
"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": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "n.*1569C>T",
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "n.*1569C>T",
"hgvs_p": null,
"transcript": "ENST00000696646.1",
"protein_id": "ENSP00000512777.1",
"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": 4103,
"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": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "n.2758C>T",
"hgvs_p": null,
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{
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}
],
"gene_symbol": "FANCM",
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"dbsnp": "rs750238406",
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"gnomad_exomes_af": 0.0000109554,
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"gnomad_genomes_homalt": 0,
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"computational_score_selected": 0.08689337968826294,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.03,
"revel_prediction": "Benign",
"alphamissense_score": 0.0968,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.232,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000267430.10",
"gene_symbol": "FANCM",
"hgnc_id": 23168,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2758C>T",
"hgvs_p": "p.Pro920Ser"
}
],
"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
}