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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: 3-4815205-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=4815205&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 4815205,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000443694.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7854G>C",
"hgvs_p": "p.Thr2618Thr",
"transcript": "NM_001378452.1",
"protein_id": "NP_001365381.1",
"transcript_support_level": null,
"aa_start": 2618,
"aa_end": null,
"aa_length": 2758,
"cds_start": 7854,
"cds_end": null,
"cds_length": 8277,
"cdna_start": 8204,
"cdna_end": null,
"cdna_length": 9908,
"mane_select": "ENST00000649015.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7854G>C",
"hgvs_p": "p.Thr2618Thr",
"transcript": "ENST00000649015.2",
"protein_id": "ENSP00000497605.1",
"transcript_support_level": null,
"aa_start": 2618,
"aa_end": null,
"aa_length": 2758,
"cds_start": 7854,
"cds_end": null,
"cds_length": 8277,
"cdna_start": 8204,
"cdna_end": null,
"cdna_length": 9908,
"mane_select": "NM_001378452.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7830G>C",
"hgvs_p": "p.Thr2610Thr",
"transcript": "ENST00000354582.12",
"protein_id": "ENSP00000346595.8",
"transcript_support_level": 5,
"aa_start": 2610,
"aa_end": null,
"aa_length": 2750,
"cds_start": 7830,
"cds_end": null,
"cds_length": 8253,
"cdna_start": 8180,
"cdna_end": null,
"cdna_length": 9876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7827G>C",
"hgvs_p": "p.Thr2609Thr",
"transcript": "ENST00000648266.1",
"protein_id": "ENSP00000498014.1",
"transcript_support_level": null,
"aa_start": 2609,
"aa_end": null,
"aa_length": 2749,
"cds_start": 7827,
"cds_end": null,
"cds_length": 8250,
"cdna_start": 8071,
"cdna_end": null,
"cdna_length": 9767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7812G>C",
"hgvs_p": "p.Thr2604Thr",
"transcript": "ENST00000650294.1",
"protein_id": "ENSP00000498056.1",
"transcript_support_level": null,
"aa_start": 2604,
"aa_end": null,
"aa_length": 2744,
"cds_start": 7812,
"cds_end": null,
"cds_length": 8235,
"cdna_start": 7949,
"cdna_end": null,
"cdna_length": 9353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7809G>C",
"hgvs_p": "p.Thr2603Thr",
"transcript": "ENST00000443694.5",
"protein_id": "ENSP00000401671.2",
"transcript_support_level": 1,
"aa_start": 2603,
"aa_end": null,
"aa_length": 2743,
"cds_start": 7809,
"cds_end": null,
"cds_length": 8232,
"cdna_start": 8054,
"cdna_end": null,
"cdna_length": 9647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7782G>C",
"hgvs_p": "p.Thr2594Thr",
"transcript": "ENST00000648309.1",
"protein_id": "ENSP00000497026.1",
"transcript_support_level": null,
"aa_start": 2594,
"aa_end": null,
"aa_length": 2734,
"cds_start": 7782,
"cds_end": null,
"cds_length": 8205,
"cdna_start": 7787,
"cdna_end": null,
"cdna_length": 9311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7710G>C",
"hgvs_p": "p.Thr2570Thr",
"transcript": "ENST00000357086.10",
"protein_id": "ENSP00000349597.4",
"transcript_support_level": 1,
"aa_start": 2570,
"aa_end": null,
"aa_length": 2710,
"cds_start": 7710,
"cds_end": null,
"cds_length": 8133,
"cdna_start": 8063,
"cdna_end": null,
"cdna_length": 9767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7665G>C",
"hgvs_p": "p.Thr2555Thr",
"transcript": "ENST00000456211.8",
"protein_id": "ENSP00000397885.2",
"transcript_support_level": 1,
"aa_start": 2555,
"aa_end": null,
"aa_length": 2695,
"cds_start": 7665,
"cds_end": null,
"cds_length": 8088,
"cdna_start": 7911,
"cdna_end": null,
"cdna_length": 9506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.5616G>C",
"hgvs_p": "p.Thr1872Thr",
"transcript": "ENST00000648038.1",
"protein_id": "ENSP00000497872.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2012,
"cds_start": 5616,
"cds_end": null,
"cds_length": 6039,
"cdna_start": 5616,
"cdna_end": null,
"cdna_length": 6998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.5031G>C",
"hgvs_p": "p.Thr1677Thr",
"transcript": "ENST00000648431.1",
"protein_id": "ENSP00000498149.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 1817,
"cds_start": 5031,
"cds_end": null,
"cds_length": 5454,
"cdna_start": 5033,
"cdna_end": null,
"cdna_length": 6517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.4794G>C",
"hgvs_p": "p.Thr1598Thr",
"transcript": "ENST00000648212.1",
"protein_id": "ENSP00000498022.1",
"transcript_support_level": null,
"aa_start": 1598,
"aa_end": null,
"aa_length": 1738,
"cds_start": 4794,
"cds_end": null,
"cds_length": 5217,
"cdna_start": 4795,
"cdna_end": null,
"cdna_length": 6373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.1743G>C",
"hgvs_p": "p.Thr581Thr",
"transcript": "ENST00000544951.6",
"protein_id": "ENSP00000440564.1",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 721,
"cds_start": 1743,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 2799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7809G>C",
"hgvs_p": "p.Thr2603Thr",
"transcript": "NM_001168272.2",
"protein_id": "NP_001161744.1",
"transcript_support_level": null,
"aa_start": 2603,
"aa_end": null,
"aa_length": 2743,
"cds_start": 7809,
"cds_end": null,
"cds_length": 8232,
"cdna_start": 8159,
"cdna_end": null,
"cdna_length": 9863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7710G>C",
"hgvs_p": "p.Thr2570Thr",
"transcript": "NM_001099952.4",
"protein_id": "NP_001093422.2",
"transcript_support_level": null,
"aa_start": 2570,
"aa_end": null,
"aa_length": 2710,
"cds_start": 7710,
"cds_end": null,
"cds_length": 8133,
"cdna_start": 8060,
"cdna_end": null,
"cdna_length": 9764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7665G>C",
"hgvs_p": "p.Thr2555Thr",
"transcript": "NM_002222.7",
"protein_id": "NP_002213.5",
"transcript_support_level": null,
"aa_start": 2555,
"aa_end": null,
"aa_length": 2695,
"cds_start": 7665,
"cds_end": null,
"cds_length": 8088,
"cdna_start": 8015,
"cdna_end": null,
"cdna_length": 9719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.4221G>C",
"hgvs_p": "p.Thr1407Thr",
"transcript": "ENST00000648016.1",
"protein_id": "ENSP00000496893.1",
"transcript_support_level": null,
"aa_start": 1407,
"aa_end": null,
"aa_length": 1547,
"cds_start": 4221,
"cds_end": null,
"cds_length": 4644,
"cdna_start": 4222,
"cdna_end": null,
"cdna_length": 5773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.186G>C",
"hgvs_p": "p.Thr62Thr",
"transcript": "ENST00000478515.2",
"protein_id": "ENSP00000497999.1",
"transcript_support_level": 3,
"aa_start": 62,
"aa_end": null,
"aa_length": 186,
"cds_start": 186,
"cds_end": null,
"cds_length": 563,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.105G>C",
"hgvs_p": "p.Thr35Thr",
"transcript": "ENST00000647685.1",
"protein_id": "ENSP00000497835.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 175,
"cds_start": 105,
"cds_end": null,
"cds_length": 528,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.105G>C",
"hgvs_p": "p.Thr35Thr",
"transcript": "ENST00000649139.1",
"protein_id": "ENSP00000497226.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 175,
"cds_start": 105,
"cds_end": null,
"cds_length": 528,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.105G>C",
"hgvs_p": "p.Thr35Thr",
"transcript": "ENST00000649908.1",
"protein_id": "ENSP00000497614.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 175,
"cds_start": 105,
"cds_end": null,
"cds_length": 528,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "n.*2858G>C",
"hgvs_p": null,
"transcript": "ENST00000302640.13",
"protein_id": "ENSP00000306253.9",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
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},
{
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],
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},
{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.569,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000443694.5",
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"effects": [
"synonymous_variant"
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"inheritance_mode": "AD,AR",
"hgvs_c": "c.7809G>C",
"hgvs_p": "p.Thr2603Thr"
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{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000465436.5",
"gene_symbol": "ENSG00000235978",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.193-774C>G",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007095790.1",
"gene_symbol": "LOC124906209",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.274-774C>G",
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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
}