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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: 3-129495553-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=129495553&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 129495553,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000348417.7",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.2154C>T",
"hgvs_p": "p.His718His",
"transcript": "NM_052989.3",
"protein_id": "NP_443715.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1241,
"cds_start": 2154,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": "ENST00000348417.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.2154C>T",
"hgvs_p": "p.His718His",
"transcript": "ENST00000348417.7",
"protein_id": "ENSP00000324005.4",
"transcript_support_level": 1,
"aa_start": 718,
"aa_end": null,
"aa_length": 1241,
"cds_start": 2154,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": "NM_052989.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.2307C>T",
"hgvs_p": "p.His769His",
"transcript": "ENST00000296266.7",
"protein_id": "ENSP00000296266.3",
"transcript_support_level": 1,
"aa_start": 769,
"aa_end": null,
"aa_length": 1292,
"cds_start": 2307,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 4151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.2130C>T",
"hgvs_p": "p.His710His",
"transcript": "ENST00000507564.5",
"protein_id": "ENSP00000425536.1",
"transcript_support_level": 1,
"aa_start": 710,
"aa_end": null,
"aa_length": 1234,
"cds_start": 2130,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1977C>T",
"hgvs_p": "p.His659His",
"transcript": "ENST00000347300.6",
"protein_id": "ENSP00000323973.3",
"transcript_support_level": 1,
"aa_start": 659,
"aa_end": null,
"aa_length": 1182,
"cds_start": 1977,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 2183,
"cdna_end": null,
"cdna_length": 3841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1821C>T",
"hgvs_p": "p.His607His",
"transcript": "ENST00000349441.6",
"protein_id": "ENSP00000324165.3",
"transcript_support_level": 1,
"aa_start": 607,
"aa_end": null,
"aa_length": 1131,
"cds_start": 1821,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.2307C>T",
"hgvs_p": "p.His769His",
"transcript": "NM_052985.4",
"protein_id": "NP_443711.2",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 1292,
"cds_start": 2307,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 4228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.2154C>T",
"hgvs_p": "p.His718His",
"transcript": "ENST00000689643.1",
"protein_id": "ENSP00000509801.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1265,
"cds_start": 2154,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 2358,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.2154C>T",
"hgvs_p": "p.His718His",
"transcript": "NM_001410808.1",
"protein_id": "NP_001397737.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1242,
"cds_start": 2154,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.2154C>T",
"hgvs_p": "p.His718His",
"transcript": "ENST00000692242.1",
"protein_id": "ENSP00000509878.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1242,
"cds_start": 2154,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 2358,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.2130C>T",
"hgvs_p": "p.His710His",
"transcript": "NM_001280541.2",
"protein_id": "NP_001267470.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 1234,
"cds_start": 2130,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 2237,
"cdna_end": null,
"cdna_length": 4054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.2130C>T",
"hgvs_p": "p.His710His",
"transcript": "ENST00000689313.1",
"protein_id": "ENSP00000509012.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2130,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 2356,
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"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.2100C>T",
"hgvs_p": "p.His700His",
"transcript": "ENST00000687377.1",
"protein_id": "ENSP00000509225.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1224,
"cds_start": 2100,
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"cds_length": 3675,
"cdna_start": 2304,
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"cdna_length": 4124,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.2100C>T",
"hgvs_p": "p.His700His",
"transcript": "NM_001410809.1",
"protein_id": "NP_001397738.1",
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"cdna_start": 2207,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.2100C>T",
"hgvs_p": "p.His700His",
"transcript": "ENST00000693129.1",
"protein_id": "ENSP00000509806.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1223,
"cds_start": 2100,
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"cdna_start": 2297,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.2091C>T",
"hgvs_p": "p.His697His",
"transcript": "ENST00000693489.1",
"protein_id": "ENSP00000509656.1",
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"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1977C>T",
"hgvs_p": "p.His659His",
"transcript": "ENST00000691733.1",
"protein_id": "ENSP00000509735.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 1206,
"cds_start": 1977,
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"cdna_start": 2174,
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"cdna_length": 3821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1998C>T",
"hgvs_p": "p.His666His",
"transcript": "NM_001438637.1",
"protein_id": "NP_001425566.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1998,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 2105,
"cdna_end": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1923C>T",
"hgvs_p": "p.His641His",
"transcript": "ENST00000690862.1",
"protein_id": "ENSP00000509210.1",
"transcript_support_level": null,
"aa_start": 641,
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"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1998C>T",
"hgvs_p": "p.His666His",
"transcript": "NM_001438638.1",
"protein_id": "NP_001425567.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 1998,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 16,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1998C>T",
"hgvs_p": "p.His666His",
"transcript": "ENST00000688020.1",
"protein_id": "ENSP00000508904.1",
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"aa_start": 666,
"aa_end": null,
"aa_length": 1189,
"cds_start": 1998,
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"cdna_start": 2099,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1977C>T",
"hgvs_p": "p.His659His",
"transcript": "NM_001410810.1",
"protein_id": "NP_001397739.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 1183,
"cds_start": 1977,
"cds_end": null,
"cds_length": 3552,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1977C>T",
"hgvs_p": "p.His659His",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.73,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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{
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"BP7",
"BS1",
"BS2"
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"verdict": "Benign",
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],
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"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:3",
"phenotype_combined": "Cranioectodermal dysplasia 1|not provided|Connective tissue disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}