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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: 9-132896499-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132896499&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 132896499,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000298552.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3231T>A",
"hgvs_p": "p.Thr1077Thr",
"transcript": "NM_000368.5",
"protein_id": "NP_000359.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3231,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3448,
"cdna_end": null,
"cdna_length": 8598,
"mane_select": "ENST00000298552.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3231T>A",
"hgvs_p": "p.Thr1077Thr",
"transcript": "ENST00000298552.9",
"protein_id": "ENSP00000298552.3",
"transcript_support_level": 1,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3231,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3448,
"cdna_end": null,
"cdna_length": 8598,
"mane_select": "NM_000368.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3231T>A",
"hgvs_p": "p.Thr1077Thr",
"transcript": "ENST00000490179.4",
"protein_id": "ENSP00000495533.2",
"transcript_support_level": 3,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3231,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3540,
"cdna_end": null,
"cdna_length": 8690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3231T>A",
"hgvs_p": "p.Thr1077Thr",
"transcript": "NM_001406592.1",
"protein_id": "NP_001393521.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3231,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3419,
"cdna_end": null,
"cdna_length": 8569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3231T>A",
"hgvs_p": "p.Thr1077Thr",
"transcript": "NM_001406593.1",
"protein_id": "NP_001393522.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3231,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3444,
"cdna_end": null,
"cdna_length": 8594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3231T>A",
"hgvs_p": "p.Thr1077Thr",
"transcript": "NM_001406594.1",
"protein_id": "NP_001393523.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3231,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3667,
"cdna_end": null,
"cdna_length": 8817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3231T>A",
"hgvs_p": "p.Thr1077Thr",
"transcript": "NM_001406595.1",
"protein_id": "NP_001393524.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3231,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3638,
"cdna_end": null,
"cdna_length": 8788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3231T>A",
"hgvs_p": "p.Thr1077Thr",
"transcript": "NM_001406596.1",
"protein_id": "NP_001393525.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3231,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3385,
"cdna_end": null,
"cdna_length": 8535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3231T>A",
"hgvs_p": "p.Thr1077Thr",
"transcript": "ENST00000643875.1",
"protein_id": "ENSP00000495158.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3231,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3445,
"cdna_end": null,
"cdna_length": 6591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3231T>A",
"hgvs_p": "p.Thr1077Thr",
"transcript": "ENST00000646440.2",
"protein_id": "ENSP00000495830.2",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3231,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3565,
"cdna_end": null,
"cdna_length": 8715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3231T>A",
"hgvs_p": "p.Thr1077Thr",
"transcript": "ENST00000646625.1",
"protein_id": "ENSP00000496263.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3231,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3436,
"cdna_end": null,
"cdna_length": 8582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3228T>A",
"hgvs_p": "p.Thr1076Thr",
"transcript": "NM_001162426.2",
"protein_id": "NP_001155898.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3228,
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"cdna_start": 3445,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3228T>A",
"hgvs_p": "p.Thr1076Thr",
"transcript": "NM_001406597.1",
"protein_id": "NP_001393526.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3228,
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"cdna_start": 3416,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3228T>A",
"hgvs_p": "p.Thr1076Thr",
"transcript": "NM_001406598.1",
"protein_id": "NP_001393527.1",
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"cds_start": 3228,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3228T>A",
"hgvs_p": "p.Thr1076Thr",
"transcript": "NM_001406599.1",
"protein_id": "NP_001393528.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3228,
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"cdna_start": 3664,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3228T>A",
"hgvs_p": "p.Thr1076Thr",
"transcript": "NM_001406600.1",
"protein_id": "NP_001393529.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3228T>A",
"hgvs_p": "p.Thr1076Thr",
"transcript": "ENST00000475903.7",
"protein_id": "ENSP00000496126.2",
"transcript_support_level": 4,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3228,
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"cdna_start": 3385,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3228T>A",
"hgvs_p": "p.Thr1076Thr",
"transcript": "ENST00000642617.1",
"protein_id": "ENSP00000493773.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
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"cds_start": 3228,
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"cdna_start": 3452,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3228T>A",
"hgvs_p": "p.Thr1076Thr",
"transcript": "ENST00000644097.1",
"protein_id": "ENSP00000494682.1",
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"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3216T>A",
"hgvs_p": "p.Thr1072Thr",
"transcript": "NM_001406601.1",
"protein_id": "NP_001393530.1",
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"aa_start": 1072,
"aa_end": null,
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"cds_start": 3216,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "T",
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"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3216T>A",
"hgvs_p": "p.Thr1072Thr",
"transcript": "NM_001406602.1",
"protein_id": "NP_001393531.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3216,
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"cdna_start": 3404,
"cdna_end": null,
"cdna_length": 8554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC1",
"gene_hgnc_id": 12362,
"hgvs_c": "c.3216T>A",
"hgvs_p": "p.Thr1072Thr",
"transcript": "ENST00000643583.1",
"protein_id": "ENSP00000494685.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3216,
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"cds_length": 3480,
"cdna_start": 3432,
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"cdna_length": 3953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
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}
],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
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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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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000298552.9",
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"effects": [
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}