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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: 15-52397434-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=52397434&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 52397434,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000399233.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1086A>G",
"hgvs_p": "p.Glu362Glu",
"transcript": "NM_001382347.1",
"protein_id": "NP_001369276.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1880,
"cds_start": 1086,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 12130,
"mane_select": "ENST00000399233.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1086A>G",
"hgvs_p": "p.Glu362Glu",
"transcript": "ENST00000399233.7",
"protein_id": "ENSP00000382179.4",
"transcript_support_level": 5,
"aa_start": 362,
"aa_end": null,
"aa_length": 1880,
"cds_start": 1086,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 12130,
"mane_select": "NM_001382347.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1086A>G",
"hgvs_p": "p.Glu362Glu",
"transcript": "ENST00000399231.8",
"protein_id": "ENSP00000382177.3",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 1855,
"cds_start": 1086,
"cds_end": null,
"cds_length": 5568,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 12227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1086A>G",
"hgvs_p": "p.Glu362Glu",
"transcript": "ENST00000356338.11",
"protein_id": "ENSP00000348693.7",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 1853,
"cds_start": 1086,
"cds_end": null,
"cds_length": 5562,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 12010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1158A>G",
"hgvs_p": "p.Glu386Glu",
"transcript": "NM_001382348.1",
"protein_id": "NP_001369277.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1904,
"cds_start": 1158,
"cds_end": null,
"cds_length": 5715,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 12250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1158A>G",
"hgvs_p": "p.Glu386Glu",
"transcript": "NM_001382349.1",
"protein_id": "NP_001369278.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1879,
"cds_start": 1158,
"cds_end": null,
"cds_length": 5640,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 12175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1086A>G",
"hgvs_p": "p.Glu362Glu",
"transcript": "NM_000259.3",
"protein_id": "NP_000250.3",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1855,
"cds_start": 1086,
"cds_end": null,
"cds_length": 5568,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 12225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1086A>G",
"hgvs_p": "p.Glu362Glu",
"transcript": "NM_001411135.1",
"protein_id": "NP_001398064.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1852,
"cds_start": 1086,
"cds_end": null,
"cds_length": 5559,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 12046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1086A>G",
"hgvs_p": "p.Glu362Glu",
"transcript": "ENST00000692556.1",
"protein_id": "ENSP00000510378.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1852,
"cds_start": 1086,
"cds_end": null,
"cds_length": 5559,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 5579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.978A>G",
"hgvs_p": "p.Glu326Glu",
"transcript": "ENST00000553916.6",
"protein_id": "ENSP00000451109.2",
"transcript_support_level": 5,
"aa_start": 326,
"aa_end": null,
"aa_length": 1841,
"cds_start": 978,
"cds_end": null,
"cds_length": 5526,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 6186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1086A>G",
"hgvs_p": "p.Glu362Glu",
"transcript": "NM_001142495.2",
"protein_id": "NP_001135967.2",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1828,
"cds_start": 1086,
"cds_end": null,
"cds_length": 5487,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 11974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1086A>G",
"hgvs_p": "p.Glu362Glu",
"transcript": "ENST00000687574.1",
"protein_id": "ENSP00000510312.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1828,
"cds_start": 1086,
"cds_end": null,
"cds_length": 5487,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 12223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1086A>G",
"hgvs_p": "p.Glu362Glu",
"transcript": "ENST00000685053.1",
"protein_id": "ENSP00000510081.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1317,
"cds_start": 1086,
"cds_end": null,
"cds_length": 3954,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 4266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1086A>G",
"hgvs_p": "p.Glu362Glu",
"transcript": "ENST00000689526.1",
"protein_id": "ENSP00000510068.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 678,
"cds_start": 1086,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1086A>G",
"hgvs_p": "p.Glu362Glu",
"transcript": "ENST00000687728.1",
"protein_id": "ENSP00000509083.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 672,
"cds_start": 1086,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 2194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Glu46Glu",
"transcript": "ENST00000692708.1",
"protein_id": "ENSP00000509394.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 355,
"cds_start": 138,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 140,
"cdna_end": null,
"cdna_length": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1086A>G",
"hgvs_p": "p.Glu362Glu",
"transcript": "XM_047432540.1",
"protein_id": "XP_047288496.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1877,
"cds_start": 1086,
"cds_end": null,
"cds_length": 5634,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 12291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1086A>G",
"hgvs_p": "p.Glu362Glu",
"transcript": "XM_047432541.1",
"protein_id": "XP_047288497.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1853,
"cds_start": 1086,
"cds_end": null,
"cds_length": 5562,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 12219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1086A>G",
"hgvs_p": "p.Glu362Glu",
"transcript": "XM_047432543.1",
"protein_id": "XP_047288499.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1850,
"cds_start": 1086,
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"cds_length": 5553,
"cdna_start": 1330,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1086A>G",
"hgvs_p": "p.Glu362Glu",
"transcript": "XM_047432544.1",
"protein_id": "XP_047288500.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1825,
"cds_start": 1086,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 12135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.693A>G",
"hgvs_p": "p.Glu231Glu",
"transcript": "XM_047432545.1",
"protein_id": "XP_047288501.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 1749,
"cds_start": 693,
"cds_end": null,
"cds_length": 5250,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 12045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.372A>G",
"hgvs_p": "p.Glu124Glu",
"transcript": "XM_047432546.1",
"protein_id": "XP_047288502.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1642,
"cds_start": 372,
"cds_end": null,
"cds_length": 4929,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 12435,
"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": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.*770A>G",
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.7,
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong",
"BP7"
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"verdict": "Likely_benign",
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"effects": [
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}