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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: 8-32760195-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=32760195&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 32760195,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000405005.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.1062-5C>T",
"hgvs_p": null,
"transcript": "NM_013964.5",
"protein_id": "NP_039258.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": -4,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11983,
"mane_select": "ENST00000405005.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.1062-5C>T",
"hgvs_p": null,
"transcript": "ENST00000405005.8",
"protein_id": "ENSP00000384620.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": -4,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11983,
"mane_select": "NM_013964.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.1077-5C>T",
"hgvs_p": null,
"transcript": "ENST00000287842.7",
"protein_id": "ENSP00000287842.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": -4,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.1053-5C>T",
"hgvs_p": null,
"transcript": "ENST00000356819.7",
"protein_id": "ENSP00000349275.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": -4,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.1062-5C>T",
"hgvs_p": null,
"transcript": "ENST00000521670.5",
"protein_id": "ENSP00000428828.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": -4,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.1281-5C>T",
"hgvs_p": null,
"transcript": "ENST00000523534.5",
"protein_id": "ENSP00000429067.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 713,
"cds_start": -4,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.1242-5C>T",
"hgvs_p": null,
"transcript": "NM_001322205.2",
"protein_id": "NP_001309134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": -4,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.1242-5C>T",
"hgvs_p": null,
"transcript": "ENST00000652592.1",
"protein_id": "ENSP00000498646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": -4,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.1077-5C>T",
"hgvs_p": null,
"transcript": "NM_013956.5",
"protein_id": "NP_039250.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": -4,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.1053-5C>T",
"hgvs_p": null,
"transcript": "NM_013957.5",
"protein_id": "NP_039251.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": -4,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.1014-5C>T",
"hgvs_p": null,
"transcript": "NM_001159999.3",
"protein_id": "NP_001153471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": -4,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
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"cdna_length": 11669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.1014-5C>T",
"hgvs_p": null,
"transcript": "ENST00000650866.1",
"protein_id": "ENSP00000499045.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.963-5C>T",
"hgvs_p": null,
"transcript": "NM_001159995.3",
"protein_id": "NP_001153467.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 10,
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"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.963-5C>T",
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"transcript": "ENST00000652698.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.912-5C>T",
"hgvs_p": null,
"transcript": "NM_001160001.3",
"protein_id": "NP_001153473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 9,
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"gene_symbol": "NRG1",
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"hgvs_c": "c.912-5C>T",
"hgvs_p": null,
"transcript": "ENST00000519301.6",
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"feature": null
},
{
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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.1242-5C>T",
"hgvs_p": null,
"transcript": "NM_001322206.2",
"protein_id": "NP_001309135.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.1242-5C>T",
"hgvs_p": null,
"transcript": "ENST00000651333.2",
"protein_id": "ENSP00000498590.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 522,
"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
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"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.591-5C>T",
"hgvs_p": null,
"transcript": "NM_001322197.2",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.1242-5C>T",
"hgvs_p": null,
"transcript": "NM_001322207.2",
"protein_id": "NP_001309136.1",
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},
{
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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.1242-5C>T",
"hgvs_p": null,
"transcript": "ENST00000650819.1",
"protein_id": "ENSP00000498946.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.1062-5C>T",
"hgvs_p": null,
"transcript": "NM_013960.5",
"protein_id": "NP_039254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 12125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"phenotype_combined": "not specified|NRG1-related disorder|Schizophrenia 6|not provided",
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}
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}