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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: 14-52859632-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=52859632&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 52859632,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000341590.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.1810A>G",
"hgvs_p": "p.Ile604Val",
"transcript": "NM_006832.3",
"protein_id": "NP_006823.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 680,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 3286,
"mane_select": "ENST00000341590.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.1810A>G",
"hgvs_p": "p.Ile604Val",
"transcript": "ENST00000341590.8",
"protein_id": "ENSP00000340391.3",
"transcript_support_level": 1,
"aa_start": 604,
"aa_end": null,
"aa_length": 680,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 3286,
"mane_select": "NM_006832.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.1831A>G",
"hgvs_p": "p.Ile611Val",
"transcript": "ENST00000553373.5",
"protein_id": "ENSP00000451084.1",
"transcript_support_level": 1,
"aa_start": 611,
"aa_end": null,
"aa_length": 687,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1831,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.1810A>G",
"hgvs_p": "p.Ile604Val",
"transcript": "ENST00000395631.6",
"protein_id": "ENSP00000378993.2",
"transcript_support_level": 1,
"aa_start": 604,
"aa_end": null,
"aa_length": 680,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.1831A>G",
"hgvs_p": "p.Ile611Val",
"transcript": "ENST00000399304.7",
"protein_id": "ENSP00000382243.3",
"transcript_support_level": 1,
"aa_start": 611,
"aa_end": null,
"aa_length": 633,
"cds_start": 1831,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1938,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.1831A>G",
"hgvs_p": "p.Ile611Val",
"transcript": "NM_001134999.2",
"protein_id": "NP_001128471.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 687,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 3307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.1831A>G",
"hgvs_p": "p.Ile611Val",
"transcript": "ENST00000343279.8",
"protein_id": "ENSP00000342858.4",
"transcript_support_level": 5,
"aa_start": 611,
"aa_end": null,
"aa_length": 687,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.1690A>G",
"hgvs_p": "p.Ile564Val",
"transcript": "ENST00000554152.5",
"protein_id": "ENSP00000450741.1",
"transcript_support_level": 5,
"aa_start": 564,
"aa_end": null,
"aa_length": 640,
"cds_start": 1690,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 3029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.1831A>G",
"hgvs_p": "p.Ile611Val",
"transcript": "NM_001135000.2",
"protein_id": "NP_001128472.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 633,
"cds_start": 1831,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.1402A>G",
"hgvs_p": "p.Ile468Val",
"transcript": "ENST00000635305.1",
"protein_id": "ENSP00000489609.1",
"transcript_support_level": 5,
"aa_start": 468,
"aa_end": null,
"aa_length": 544,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.328A>G",
"hgvs_p": "p.Ile110Val",
"transcript": "ENST00000553663.5",
"protein_id": "ENSP00000451134.1",
"transcript_support_level": 3,
"aa_start": 110,
"aa_end": null,
"aa_length": 132,
"cds_start": 328,
"cds_end": null,
"cds_length": 399,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.1888A>G",
"hgvs_p": "p.Ile630Val",
"transcript": "XM_006720008.4",
"protein_id": "XP_006720071.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 706,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.1864A>G",
"hgvs_p": "p.Ile622Val",
"transcript": "XM_006720009.4",
"protein_id": "XP_006720072.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 698,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2003,
"cdna_end": null,
"cdna_length": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.1855A>G",
"hgvs_p": "p.Ile619Val",
"transcript": "XM_006720010.4",
"protein_id": "XP_006720073.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 695,
"cds_start": 1855,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 3331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.1843A>G",
"hgvs_p": "p.Ile615Val",
"transcript": "XM_005267285.4",
"protein_id": "XP_005267342.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 691,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 3319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "n.732A>G",
"hgvs_p": null,
"transcript": "ENST00000553768.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "n.1046A>G",
"hgvs_p": null,
"transcript": "ENST00000555546.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "n.3640A>G",
"hgvs_p": null,
"transcript": "ENST00000557255.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 6001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285664",
"gene_hgnc_id": null,
"hgvs_c": "n.668+27144T>C",
"hgvs_p": null,
"transcript": "ENST00000649005.1",
"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": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285664",
"gene_hgnc_id": null,
"hgvs_c": "n.410-38441T>C",
"hgvs_p": null,
"transcript": "ENST00000653549.1",
"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": 1954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285664",
"gene_hgnc_id": null,
"hgvs_c": "n.572-38441T>C",
"hgvs_p": null,
"transcript": "ENST00000654071.1",
"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": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285664",
"gene_hgnc_id": null,
"hgvs_c": "n.550-38441T>C",
"hgvs_p": null,
"transcript": "ENST00000658290.1",
"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": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285664",
"gene_hgnc_id": null,
"hgvs_c": "n.550-38441T>C",
"hgvs_p": null,
"transcript": "ENST00000670923.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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],
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}
],
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"dbsnp": "rs137900215",
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"hom_count_reference_population": 0,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1401037573814392,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.181,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.34,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
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"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000341590.8",
"gene_symbol": "FERMT2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1810A>G",
"hgvs_p": "p.Ile604Val"
},
{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000649005.1",
"gene_symbol": "ENSG00000285664",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.668+27144T>C",
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},
{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_943867.3",
"gene_symbol": "LOC105370500",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.540-38441T>C",
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}
],
"clinvar_disease": "not specified",
"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
}