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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: 9-115029385-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=115029385&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 115029385,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000350763.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.6144G>A",
"hgvs_p": "p.Gly2048Gly",
"transcript": "NM_002160.4",
"protein_id": "NP_002151.2",
"transcript_support_level": null,
"aa_start": 2048,
"aa_end": null,
"aa_length": 2201,
"cds_start": 6144,
"cds_end": null,
"cds_length": 6606,
"cdna_start": 6456,
"cdna_end": null,
"cdna_length": 8500,
"mane_select": "ENST00000350763.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.6144G>A",
"hgvs_p": "p.Gly2048Gly",
"transcript": "ENST00000350763.9",
"protein_id": "ENSP00000265131.4",
"transcript_support_level": 1,
"aa_start": 2048,
"aa_end": null,
"aa_length": 2201,
"cds_start": 6144,
"cds_end": null,
"cds_length": 6606,
"cdna_start": 6456,
"cdna_end": null,
"cdna_length": 8500,
"mane_select": "NM_002160.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.5325G>A",
"hgvs_p": "p.Gly1775Gly",
"transcript": "ENST00000423613.6",
"protein_id": "ENSP00000411406.2",
"transcript_support_level": 1,
"aa_start": 1775,
"aa_end": null,
"aa_length": 1928,
"cds_start": 5325,
"cds_end": null,
"cds_length": 5787,
"cdna_start": 5608,
"cdna_end": null,
"cdna_length": 6281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.5055G>A",
"hgvs_p": "p.Gly1685Gly",
"transcript": "ENST00000542877.6",
"protein_id": "ENSP00000442242.1",
"transcript_support_level": 1,
"aa_start": 1685,
"aa_end": null,
"aa_length": 1838,
"cds_start": 5055,
"cds_end": null,
"cds_length": 5517,
"cdna_start": 5417,
"cdna_end": null,
"cdna_length": 5879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.6693G>A",
"hgvs_p": "p.Gly2231Gly",
"transcript": "NM_001439065.1",
"protein_id": "NP_001425994.1",
"transcript_support_level": null,
"aa_start": 2231,
"aa_end": null,
"aa_length": 2384,
"cds_start": 6693,
"cds_end": null,
"cds_length": 7155,
"cdna_start": 7005,
"cdna_end": null,
"cdna_length": 9049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.6693G>A",
"hgvs_p": "p.Gly2231Gly",
"transcript": "NM_001439066.1",
"protein_id": "NP_001425995.1",
"transcript_support_level": null,
"aa_start": 2231,
"aa_end": null,
"aa_length": 2384,
"cds_start": 6693,
"cds_end": null,
"cds_length": 7155,
"cdna_start": 7109,
"cdna_end": null,
"cdna_length": 9153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.6693G>A",
"hgvs_p": "p.Gly2231Gly",
"transcript": "NM_001439067.1",
"protein_id": "NP_001425996.1",
"transcript_support_level": null,
"aa_start": 2231,
"aa_end": null,
"aa_length": 2384,
"cds_start": 6693,
"cds_end": null,
"cds_length": 7155,
"cdna_start": 7235,
"cdna_end": null,
"cdna_length": 9279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.6420G>A",
"hgvs_p": "p.Gly2140Gly",
"transcript": "NM_001439068.1",
"protein_id": "NP_001425997.1",
"transcript_support_level": null,
"aa_start": 2140,
"aa_end": null,
"aa_length": 2293,
"cds_start": 6420,
"cds_end": null,
"cds_length": 6882,
"cdna_start": 6732,
"cdna_end": null,
"cdna_length": 8776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.6420G>A",
"hgvs_p": "p.Gly2140Gly",
"transcript": "NM_001439069.1",
"protein_id": "NP_001425998.1",
"transcript_support_level": null,
"aa_start": 2140,
"aa_end": null,
"aa_length": 2293,
"cds_start": 6420,
"cds_end": null,
"cds_length": 6882,
"cdna_start": 6732,
"cdna_end": null,
"cdna_length": 8776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.6420G>A",
"hgvs_p": "p.Gly2140Gly",
"transcript": "NM_001439070.1",
"protein_id": "NP_001425999.1",
"transcript_support_level": null,
"aa_start": 2140,
"aa_end": null,
"aa_length": 2293,
"cds_start": 6420,
"cds_end": null,
"cds_length": 6882,
"cdna_start": 6836,
"cdna_end": null,
"cdna_length": 8880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.6417G>A",
"hgvs_p": "p.Gly2139Gly",
"transcript": "NM_001439071.1",
"protein_id": "NP_001426000.1",
"transcript_support_level": null,
"aa_start": 2139,
"aa_end": null,
"aa_length": 2292,
"cds_start": 6417,
"cds_end": null,
"cds_length": 6879,
"cdna_start": 6729,
"cdna_end": null,
"cdna_length": 8773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.6147G>A",
"hgvs_p": "p.Gly2049Gly",
"transcript": "NM_001439072.1",
"protein_id": "NP_001426001.1",
"transcript_support_level": null,
"aa_start": 2049,
"aa_end": null,
"aa_length": 2202,
"cds_start": 6147,
"cds_end": null,
"cds_length": 6609,
"cdna_start": 6459,
"cdna_end": null,
"cdna_length": 8503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.6147G>A",
"hgvs_p": "p.Gly2049Gly",
"transcript": "NM_001439073.1",
"protein_id": "NP_001426002.1",
"transcript_support_level": null,
"aa_start": 2049,
"aa_end": null,
"aa_length": 2202,
"cds_start": 6147,
"cds_end": null,
"cds_length": 6609,
"cdna_start": 6563,
"cdna_end": null,
"cdna_length": 8607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.6144G>A",
"hgvs_p": "p.Gly2048Gly",
"transcript": "NM_001439074.1",
"protein_id": "NP_001426003.1",
"transcript_support_level": null,
"aa_start": 2048,
"aa_end": null,
"aa_length": 2201,
"cds_start": 6144,
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"cdna_start": 6456,
"cdna_end": null,
"cdna_length": 8500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.6144G>A",
"hgvs_p": "p.Gly2048Gly",
"transcript": "NM_001439075.1",
"protein_id": "NP_001426004.1",
"transcript_support_level": null,
"aa_start": 2048,
"aa_end": null,
"aa_length": 2201,
"cds_start": 6144,
"cds_end": null,
"cds_length": 6606,
"cdna_start": 6560,
"cdna_end": null,
"cdna_length": 8604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.6144G>A",
"hgvs_p": "p.Gly2048Gly",
"transcript": "NM_001439076.1",
"protein_id": "NP_001426005.1",
"transcript_support_level": null,
"aa_start": 2048,
"aa_end": null,
"aa_length": 2201,
"cds_start": 6144,
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"cdna_start": 6686,
"cdna_end": null,
"cdna_length": 8730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.5871G>A",
"hgvs_p": "p.Gly1957Gly",
"transcript": "NM_001439077.1",
"protein_id": "NP_001426006.1",
"transcript_support_level": null,
"aa_start": 1957,
"aa_end": null,
"aa_length": 2110,
"cds_start": 5871,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 6183,
"cdna_end": null,
"cdna_length": 8227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.5871G>A",
"hgvs_p": "p.Gly1957Gly",
"transcript": "NM_001439078.1",
"protein_id": "NP_001426007.1",
"transcript_support_level": null,
"aa_start": 1957,
"aa_end": null,
"aa_length": 2110,
"cds_start": 5871,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 6287,
"cdna_end": null,
"cdna_length": 8331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.5871G>A",
"hgvs_p": "p.Gly1957Gly",
"transcript": "NM_001439079.1",
"protein_id": "NP_001426008.1",
"transcript_support_level": null,
"aa_start": 1957,
"aa_end": null,
"aa_length": 2110,
"cds_start": 5871,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.5871G>A",
"hgvs_p": "p.Gly1957Gly",
"transcript": "NM_001439080.1",
"protein_id": "NP_001426009.1",
"transcript_support_level": null,
"aa_start": 1957,
"aa_end": null,
"aa_length": 2110,
"cds_start": 5871,
"cds_end": null,
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"cdna_start": 6183,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.5871G>A",
"hgvs_p": "p.Gly1957Gly",
"transcript": "NM_001439081.1",
"protein_id": "NP_001426010.1",
"transcript_support_level": null,
"aa_start": 1957,
"aa_end": null,
"aa_length": 2110,
"cds_start": 5871,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 6287,
"cdna_end": null,
"cdna_length": 8331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.5871G>A",
"hgvs_p": "p.Gly1957Gly",
"transcript": "NM_001439082.1",
"protein_id": "NP_001426011.1",
"transcript_support_level": null,
"aa_start": 1957,
"aa_end": null,
"aa_length": 2110,
"cds_start": 5871,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 6413,
"cdna_end": null,
"cdna_length": 8457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNC",
"gene_hgnc_id": 5318,
"hgvs_c": "c.5598G>A",
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],
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"computational_score_selected": 0.7559999823570251,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.756,
"revel_prediction": "Pathogenic",
"alphamissense_score": null,
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"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.549,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 17,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000350763.9",
"gene_symbol": "TNC",
"hgnc_id": 5318,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.6144G>A",
"hgvs_p": "p.Gly2048Gly"
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{
"score": -15,
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"criteria": [
"PP3",
"BP6_Very_Strong",
"BA1"
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"verdict": "Benign",
"transcript": "ENST00000648852.1",
"gene_symbol": "DELEC1",
"hgnc_id": 23658,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.277-39611C>T",
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}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 56,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not provided|Autosomal dominant nonsyndromic hearing loss 56",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}