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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: 8-32548630-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=32548630&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 32548630,
"ref": "C",
"alt": "A",
"effect": "5_prime_UTR_variant",
"transcript": "NM_013956.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"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": null,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000405005.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013964.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"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": null,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013964.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405005.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"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": null,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356819.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"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": null,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521670.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.746-47198C>A",
"hgvs_p": null,
"transcript": "ENST00000520407.5",
"protein_id": "ENSP00000434640.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": null,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520407.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"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": null,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013956.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"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": null,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013957.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"hgvs_p": null,
"transcript": "ENST00000943676.1",
"protein_id": "ENSP00000613735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 603,
"cds_start": null,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943676.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"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": null,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013960.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"hgvs_p": null,
"transcript": "ENST00000652588.1",
"protein_id": "ENSP00000498367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": null,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652588.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"hgvs_p": null,
"transcript": "NM_001160004.3",
"protein_id": "NP_001153476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": null,
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"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160004.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"hgvs_p": null,
"transcript": "NM_001160008.2",
"protein_id": "NP_001153480.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": null,
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"cds_length": 1263,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160008.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"hgvs_p": null,
"transcript": "ENST00000523079.5",
"protein_id": "ENSP00000430120.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": null,
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"cds_length": 1263,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523079.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"hgvs_p": null,
"transcript": "NM_013958.4",
"protein_id": "NP_039252.2",
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "NM_013958.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"hgvs_p": null,
"transcript": "ENST00000650919.1",
"protein_id": "ENSP00000498811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650919.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"hgvs_p": null,
"transcript": "NM_004495.4",
"protein_id": "NP_004486.2",
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004495.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"hgvs_p": null,
"transcript": "NM_001160005.2",
"protein_id": "NP_001153477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cds_length": 624,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160005.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"hgvs_p": null,
"transcript": "ENST00000650967.1",
"protein_id": "ENSP00000498833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000650967.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"hgvs_p": null,
"transcript": "NM_001160002.2",
"protein_id": "NP_001153474.1",
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"biotype": "protein_coding",
"feature": "NM_001160002.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"hgvs_p": null,
"transcript": "NM_001160007.2",
"protein_id": "NP_001153479.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001160007.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-97C>A",
"hgvs_p": null,
"transcript": "XM_017013368.3",
"protein_id": "XP_016868857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 611,
"cds_start": null,
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"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013368.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.305-47198C>A",
"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": null,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523534.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
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"BA1"
],
"verdict": "Benign",
"transcript": "NM_013956.5",
"gene_symbol": "NRG1",
"hgnc_id": 7997,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-97C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}