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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: 14-45196400-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=45196400&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 45196400,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000267430.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5569G>A",
"hgvs_p": "p.Val1857Met",
"transcript": "NM_020937.4",
"protein_id": "NP_065988.1",
"transcript_support_level": null,
"aa_start": 1857,
"aa_end": null,
"aa_length": 2048,
"cds_start": 5569,
"cds_end": null,
"cds_length": 6147,
"cdna_start": 5671,
"cdna_end": null,
"cdna_length": 7131,
"mane_select": "ENST00000267430.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5569G>A",
"hgvs_p": "p.Val1857Met",
"transcript": "ENST00000267430.10",
"protein_id": "ENSP00000267430.5",
"transcript_support_level": 1,
"aa_start": 1857,
"aa_end": null,
"aa_length": 2048,
"cds_start": 5569,
"cds_end": null,
"cds_length": 6147,
"cdna_start": 5671,
"cdna_end": null,
"cdna_length": 7131,
"mane_select": "NM_020937.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5491G>A",
"hgvs_p": "p.Val1831Met",
"transcript": "ENST00000542564.6",
"protein_id": "ENSP00000442493.2",
"transcript_support_level": 1,
"aa_start": 1831,
"aa_end": null,
"aa_length": 2022,
"cds_start": 5491,
"cds_end": null,
"cds_length": 6069,
"cdna_start": 5569,
"cdna_end": null,
"cdna_length": 6167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5362G>A",
"hgvs_p": "p.Val1788Met",
"transcript": "ENST00000556250.6",
"protein_id": "ENSP00000452033.2",
"transcript_support_level": 1,
"aa_start": 1788,
"aa_end": null,
"aa_length": 1979,
"cds_start": 5362,
"cds_end": null,
"cds_length": 5940,
"cdna_start": 5464,
"cdna_end": null,
"cdna_length": 6924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5491G>A",
"hgvs_p": "p.Val1831Met",
"transcript": "NM_001308133.2",
"protein_id": "NP_001295062.1",
"transcript_support_level": null,
"aa_start": 1831,
"aa_end": null,
"aa_length": 2022,
"cds_start": 5491,
"cds_end": null,
"cds_length": 6069,
"cdna_start": 5593,
"cdna_end": null,
"cdna_length": 7053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5413G>A",
"hgvs_p": "p.Val1805Met",
"transcript": "ENST00000696649.1",
"protein_id": "ENSP00000512780.1",
"transcript_support_level": null,
"aa_start": 1805,
"aa_end": null,
"aa_length": 1996,
"cds_start": 5413,
"cds_end": null,
"cds_length": 5991,
"cdna_start": 5442,
"cdna_end": null,
"cdna_length": 6902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.4399G>A",
"hgvs_p": "p.Val1467Met",
"transcript": "ENST00000696664.1",
"protein_id": "ENSP00000512790.1",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1658,
"cds_start": 4399,
"cds_end": null,
"cds_length": 4977,
"cdna_start": 4401,
"cdna_end": null,
"cdna_length": 5812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.4195G>A",
"hgvs_p": "p.Val1399Met",
"transcript": "ENST00000696683.1",
"protein_id": "ENSP00000512806.1",
"transcript_support_level": null,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1590,
"cds_start": 4195,
"cds_end": null,
"cds_length": 4773,
"cdna_start": 4197,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.3886G>A",
"hgvs_p": "p.Val1296Met",
"transcript": "ENST00000554809.6",
"protein_id": "ENSP00000450632.2",
"transcript_support_level": 2,
"aa_start": 1296,
"aa_end": null,
"aa_length": 1487,
"cds_start": 3886,
"cds_end": null,
"cds_length": 4464,
"cdna_start": 3886,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Val449Met",
"transcript": "ENST00000555484.2",
"protein_id": "ENSP00000450797.2",
"transcript_support_level": 3,
"aa_start": 449,
"aa_end": null,
"aa_length": 572,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Val449Met",
"transcript": "ENST00000696665.1",
"protein_id": "ENSP00000512791.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 508,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5584G>A",
"hgvs_p": "p.Val1862Met",
"transcript": "XM_011537034.3",
"protein_id": "XP_011535336.1",
"transcript_support_level": null,
"aa_start": 1862,
"aa_end": null,
"aa_length": 2053,
"cds_start": 5584,
"cds_end": null,
"cds_length": 6162,
"cdna_start": 5686,
"cdna_end": null,
"cdna_length": 7146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.5506G>A",
"hgvs_p": "p.Val1836Met",
"transcript": "XM_011537035.4",
"protein_id": "XP_011535337.1",
"transcript_support_level": null,
"aa_start": 1836,
"aa_end": null,
"aa_length": 2027,
"cds_start": 5506,
"cds_end": null,
"cds_length": 6084,
"cdna_start": 5608,
"cdna_end": null,
"cdna_length": 7068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.4399G>A",
"hgvs_p": "p.Val1467Met",
"transcript": "XM_047431634.1",
"protein_id": "XP_047287590.1",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1658,
"cds_start": 4399,
"cds_end": null,
"cds_length": 4977,
"cdna_start": 4488,
"cdna_end": null,
"cdna_length": 5948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "c.3598G>A",
"hgvs_p": "p.Val1200Met",
"transcript": "XM_011537037.4",
"protein_id": "XP_011535339.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1391,
"cds_start": 3598,
"cds_end": null,
"cds_length": 4176,
"cdna_start": 4157,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "n.1345G>A",
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "n.1459G>A",
"hgvs_p": null,
"transcript": "ENST00000696645.1",
"protein_id": null,
"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": 2220,
"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": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "n.*3594G>A",
"hgvs_p": null,
"transcript": "ENST00000696648.1",
"protein_id": "ENSP00000512779.1",
"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": 6349,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "n.2009G>A",
"hgvs_p": null,
"transcript": "ENST00000696651.1",
"protein_id": null,
"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": 2706,
"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": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "n.*1408G>A",
"hgvs_p": null,
"transcript": "ENST00000696663.1",
"protein_id": "ENSP00000512789.1",
"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": 5907,
"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": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "n.*1325G>A",
"hgvs_p": null,
"transcript": "ENST00000696675.1",
"protein_id": "ENSP00000512799.1",
"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": 6313,
"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": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "n.4384G>A",
"hgvs_p": null,
"transcript": "ENST00000696685.1",
"protein_id": "ENSP00000512808.1",
"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": 5847,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCM",
"gene_hgnc_id": 23168,
"hgvs_c": "n.2306G>A",
"hgvs_p": null,
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],
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"dbsnp": "rs144008013",
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"hom_count_reference_population": 3,
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"computational_score_selected": 0.15004777908325195,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.412,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6005,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.935,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000267430.10",
"gene_symbol": "FANCM",
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"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.5569G>A",
"hgvs_p": "p.Val1857Met"
}
],
"clinvar_disease": " complementation group M,FANCM-related disorder,Fanconi anemia,Hereditary cancer-predisposing syndrome,Premature ovarian failure 15,Spermatogenic failure 28,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6 O:1",
"phenotype_combined": "Fanconi anemia|Hereditary cancer-predisposing syndrome|Spermatogenic failure 28;Premature ovarian failure 15|Fanconi anemia, complementation group M|not provided|FANCM-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}