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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: 16-68352314-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=68352314&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 68352314,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000441236.3",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1480T>C",
"hgvs_p": "p.Trp494Arg",
"transcript": "NM_019023.5",
"protein_id": "NP_061896.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 692,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1779,
"cdna_end": null,
"cdna_length": 3738,
"mane_select": "ENST00000441236.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1480T>C",
"hgvs_p": "p.Trp494Arg",
"transcript": "ENST00000441236.3",
"protein_id": "ENSP00000409324.2",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 692,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1779,
"cdna_end": null,
"cdna_length": 3738,
"mane_select": "NM_019023.5",
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.1604T>C",
"hgvs_p": null,
"transcript": "ENST00000567542.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1480T>C",
"hgvs_p": "p.Trp494Arg",
"transcript": "NM_001351143.3",
"protein_id": "NP_001338072.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 713,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1779,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1480T>C",
"hgvs_p": "p.Trp494Arg",
"transcript": "NM_001290018.2",
"protein_id": "NP_001276947.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 692,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 4289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1480T>C",
"hgvs_p": "p.Trp494Arg",
"transcript": "NM_001378018.1",
"protein_id": "NP_001364947.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 692,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 3603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1480T>C",
"hgvs_p": "p.Trp494Arg",
"transcript": "ENST00000339507.9",
"protein_id": "ENSP00000343103.5",
"transcript_support_level": 2,
"aa_start": 494,
"aa_end": null,
"aa_length": 692,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 4238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1480T>C",
"hgvs_p": "p.Trp494Arg",
"transcript": "ENST00000687558.1",
"protein_id": "ENSP00000509003.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 692,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1480T>C",
"hgvs_p": "p.Trp494Arg",
"transcript": "ENST00000692760.1",
"protein_id": "ENSP00000510748.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 692,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1480T>C",
"hgvs_p": "p.Trp494Arg",
"transcript": "ENST00000565745.6",
"protein_id": "ENSP00000456190.2",
"transcript_support_level": 5,
"aa_start": 494,
"aa_end": null,
"aa_length": 655,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1342T>C",
"hgvs_p": "p.Trp448Arg",
"transcript": "ENST00000691804.1",
"protein_id": "ENSP00000509455.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 646,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1330T>C",
"hgvs_p": "p.Trp444Arg",
"transcript": "NM_001184824.4",
"protein_id": "NP_001171753.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 642,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1330T>C",
"hgvs_p": "p.Trp444Arg",
"transcript": "ENST00000449359.7",
"protein_id": "ENSP00000414716.3",
"transcript_support_level": 2,
"aa_start": 444,
"aa_end": null,
"aa_length": 642,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1273T>C",
"hgvs_p": "p.Trp425Arg",
"transcript": "NM_001378020.1",
"protein_id": "NP_001364949.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 623,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1258T>C",
"hgvs_p": "p.Trp420Arg",
"transcript": "ENST00000691961.1",
"protein_id": "ENSP00000510574.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 618,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1243T>C",
"hgvs_p": "p.Trp415Arg",
"transcript": "NM_001378021.1",
"protein_id": "NP_001364950.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 613,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1243T>C",
"hgvs_p": "p.Trp415Arg",
"transcript": "NM_001378022.1",
"protein_id": "NP_001364951.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 613,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1243T>C",
"hgvs_p": "p.Trp415Arg",
"transcript": "NM_001378023.1",
"protein_id": "NP_001364952.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 613,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1186T>C",
"hgvs_p": "p.Trp396Arg",
"transcript": "ENST00000691663.1",
"protein_id": "ENSP00000510167.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 594,
"cds_start": 1186,
"cds_end": null,
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"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"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": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1480T>C",
"hgvs_p": "p.Trp494Arg",
"transcript": "ENST00000692966.1",
"protein_id": "ENSP00000510428.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 567,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 2197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1480T>C",
"hgvs_p": "p.Trp494Arg",
"transcript": "XM_011523116.4",
"protein_id": "XP_011521418.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 713,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.1480T>C",
"hgvs_p": "p.Trp494Arg",
"transcript": "XM_017023292.3",
"protein_id": "XP_016878781.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 713,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_classification": "Uncertain_significance",
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{
"score": 5,
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"pathogenic_score": 5,
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"PP5"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "Inborn genetic diseases,Short stature-brachydactyly-obesity-global developmental delay syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:2 US:1",
"phenotype_combined": "Short stature-brachydactyly-obesity-global developmental delay syndrome|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}