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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: 3-129488313-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=129488313&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 129488313,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_052985.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1908T>C",
"hgvs_p": "p.Ile636Ile",
"transcript": "NM_052989.3",
"protein_id": "NP_443715.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 1241,
"cds_start": 1908,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": "ENST00000348417.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052989.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1908T>C",
"hgvs_p": "p.Ile636Ile",
"transcript": "ENST00000348417.7",
"protein_id": "ENSP00000324005.4",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 1241,
"cds_start": 1908,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": "NM_052989.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348417.7"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.2061T>C",
"hgvs_p": "p.Ile687Ile",
"transcript": "ENST00000296266.7",
"protein_id": "ENSP00000296266.3",
"transcript_support_level": 1,
"aa_start": 687,
"aa_end": null,
"aa_length": 1292,
"cds_start": 2061,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 2253,
"cdna_end": null,
"cdna_length": 4151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296266.7"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1884T>C",
"hgvs_p": "p.Ile628Ile",
"transcript": "ENST00000507564.5",
"protein_id": "ENSP00000425536.1",
"transcript_support_level": 1,
"aa_start": 628,
"aa_end": null,
"aa_length": 1234,
"cds_start": 1884,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 2003,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507564.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1731T>C",
"hgvs_p": "p.Ile577Ile",
"transcript": "ENST00000347300.6",
"protein_id": "ENSP00000323973.3",
"transcript_support_level": 1,
"aa_start": 577,
"aa_end": null,
"aa_length": 1182,
"cds_start": 1731,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 1937,
"cdna_end": null,
"cdna_length": 3841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347300.6"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1575T>C",
"hgvs_p": "p.Ile525Ile",
"transcript": "ENST00000349441.6",
"protein_id": "ENSP00000324165.3",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 1131,
"cds_start": 1575,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349441.6"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.2061T>C",
"hgvs_p": "p.Ile687Ile",
"transcript": "NM_052985.4",
"protein_id": "NP_443711.2",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 1292,
"cds_start": 2061,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 4228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052985.4"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1908T>C",
"hgvs_p": "p.Ile636Ile",
"transcript": "ENST00000689643.1",
"protein_id": "ENSP00000509801.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1908,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 2112,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689643.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1908T>C",
"hgvs_p": "p.Ile636Ile",
"transcript": "NM_001410808.1",
"protein_id": "NP_001397737.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1908,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410808.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1908T>C",
"hgvs_p": "p.Ile636Ile",
"transcript": "ENST00000692242.1",
"protein_id": "ENSP00000509878.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1908,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 2112,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692242.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1908T>C",
"hgvs_p": "p.Ile636Ile",
"transcript": "ENST00000875675.1",
"protein_id": "ENSP00000545734.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 1241,
"cds_start": 1908,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875675.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1884T>C",
"hgvs_p": "p.Ile628Ile",
"transcript": "NM_001280541.2",
"protein_id": "NP_001267470.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 1234,
"cds_start": 1884,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 1991,
"cdna_end": null,
"cdna_length": 4054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280541.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1884T>C",
"hgvs_p": "p.Ile628Ile",
"transcript": "ENST00000689313.1",
"protein_id": "ENSP00000509012.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 1233,
"cds_start": 1884,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689313.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1908T>C",
"hgvs_p": "p.Ile636Ile",
"transcript": "ENST00000957303.1",
"protein_id": "ENSP00000627362.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 1228,
"cds_start": 1908,
"cds_end": null,
"cds_length": 3687,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 3787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957303.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1908T>C",
"hgvs_p": "p.Ile636Ile",
"transcript": "ENST00000687377.1",
"protein_id": "ENSP00000509225.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 1224,
"cds_start": 1908,
"cds_end": null,
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"cdna_start": 2112,
"cdna_end": null,
"cdna_length": 4124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687377.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1908T>C",
"hgvs_p": "p.Ile636Ile",
"transcript": "NM_001410809.1",
"protein_id": "NP_001397738.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 1223,
"cds_start": 1908,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410809.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1908T>C",
"hgvs_p": "p.Ile636Ile",
"transcript": "ENST00000693129.1",
"protein_id": "ENSP00000509806.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 1223,
"cds_start": 1908,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693129.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1908T>C",
"hgvs_p": "p.Ile636Ile",
"transcript": "ENST00000693489.1",
"protein_id": "ENSP00000509656.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 1220,
"cds_start": 1908,
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"cdna_start": 2112,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693489.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1731T>C",
"hgvs_p": "p.Ile577Ile",
"transcript": "ENST00000691733.1",
"protein_id": "ENSP00000509735.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 1206,
"cds_start": 1731,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 1928,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691733.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1752T>C",
"hgvs_p": "p.Ile584Ile",
"transcript": "NM_001438637.1",
"protein_id": "NP_001425566.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1752,
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"cdna_start": 1859,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438637.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"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.1731T>C",
"hgvs_p": "p.Ile577Ile",
"transcript": "ENST00000690862.1",
"protein_id": "ENSP00000509210.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1731,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690862.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.1752T>C",
"hgvs_p": "p.Ile584Ile",
"transcript": "NM_001438638.1",
"protein_id": "NP_001425567.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 1189,
"cds_start": 1752,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
"score": -21,
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"criteria": [
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"BS1",
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"verdict": "Benign",
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],
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"clinvar_disease": "Cranioectodermal dysplasia 1,IFT122-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "not specified|Cranioectodermal dysplasia 1|not provided|IFT122-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}