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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: 8-109575549-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=109575549&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 109575549,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001099744.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Thr450Ile",
"transcript": "NM_001099754.2",
"protein_id": "NP_001093224.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 663,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 3083,
"mane_select": "ENST00000276646.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099754.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Thr450Ile",
"transcript": "ENST00000276646.14",
"protein_id": "ENSP00000276646.9",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 663,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 3083,
"mane_select": "NM_001099754.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276646.14"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1364C>T",
"hgvs_p": "p.Thr455Ile",
"transcript": "ENST00000424158.6",
"protein_id": "ENSP00000415654.2",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 668,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 3007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424158.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1346C>T",
"hgvs_p": "p.Thr449Ile",
"transcript": "ENST00000446070.6",
"protein_id": "ENSP00000414748.2",
"transcript_support_level": 1,
"aa_start": 449,
"aa_end": null,
"aa_length": 662,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 2919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446070.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1346C>T",
"hgvs_p": "p.Thr449Ile",
"transcript": "ENST00000533895.5",
"protein_id": "ENSP00000433446.1",
"transcript_support_level": 1,
"aa_start": 449,
"aa_end": null,
"aa_length": 662,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1673,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533895.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1340C>T",
"hgvs_p": "p.Thr447Ile",
"transcript": "ENST00000399066.7",
"protein_id": "ENSP00000382019.3",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 660,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 3435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399066.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Thr331Ile",
"transcript": "ENST00000528331.5",
"protein_id": "ENSP00000436041.1",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 544,
"cds_start": 992,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528331.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.731C>T",
"hgvs_p": "p.Thr244Ile",
"transcript": "ENST00000529175.5",
"protein_id": "ENSP00000434871.1",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 457,
"cds_start": 731,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 2717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529175.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Thr450Ile",
"transcript": "NM_001099744.2",
"protein_id": "NP_001093214.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 663,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099744.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Thr450Ile",
"transcript": "NM_001099745.2",
"protein_id": "NP_001093215.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 663,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099745.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Thr450Ile",
"transcript": "NM_001099748.2",
"protein_id": "NP_001093218.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 663,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 3092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099748.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Thr450Ile",
"transcript": "NM_001099750.2",
"protein_id": "NP_001093220.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 663,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099750.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Thr450Ile",
"transcript": "NM_001099752.2",
"protein_id": "NP_001093222.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 663,
"cds_start": 1349,
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"cds_length": 1992,
"cdna_start": 1711,
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"cdna_length": 3282,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001099752.2"
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Thr450Ile",
"transcript": "ENST00000408908.6",
"protein_id": "ENSP00000386154.2",
"transcript_support_level": 5,
"aa_start": 450,
"aa_end": null,
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"cds_start": 1349,
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"cdna_start": 1622,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408908.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Thr450Ile",
"transcript": "ENST00000422135.5",
"protein_id": "ENSP00000407118.1",
"transcript_support_level": 5,
"aa_start": 450,
"aa_end": null,
"aa_length": 663,
"cds_start": 1349,
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"cdna_start": 1865,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000422135.5"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Thr450Ile",
"transcript": "ENST00000433638.1",
"protein_id": "ENSP00000403544.1",
"transcript_support_level": 5,
"aa_start": 450,
"aa_end": null,
"aa_length": 663,
"cds_start": 1349,
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"cdna_start": 1743,
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"cdna_length": 3104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433638.1"
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Thr450Ile",
"transcript": "ENST00000440310.5",
"protein_id": "ENSP00000404369.1",
"transcript_support_level": 5,
"aa_start": 450,
"aa_end": null,
"aa_length": 663,
"cds_start": 1349,
"cds_end": null,
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"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440310.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Thr450Ile",
"transcript": "ENST00000533171.5",
"protein_id": "ENSP00000434679.1",
"transcript_support_level": 2,
"aa_start": 450,
"aa_end": null,
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"cds_start": 1349,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000533171.5"
},
{
"aa_ref": "T",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Thr450Ile",
"transcript": "ENST00000958720.1",
"protein_id": "ENSP00000628779.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 663,
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"cdna_start": 1692,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958720.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Thr450Ile",
"transcript": "ENST00000958721.1",
"protein_id": "ENSP00000628780.1",
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"aa_start": 450,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958721.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Thr450Ile",
"transcript": "ENST00000958722.1",
"protein_id": "ENSP00000628781.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 663,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958722.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYBU",
"gene_hgnc_id": 26011,
"hgvs_c": "c.1346C>T",
"hgvs_p": "p.Thr449Ile",
"transcript": "NM_001099743.2",
"protein_id": "NP_001093213.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 662,
"cds_start": 1346,
"cds_end": null,
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"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001099744.2",
"gene_symbol": "SYBU",
"hgnc_id": 26011,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Thr450Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}