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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: 16-4882559-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4882559&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4882559,
"ref": "T",
"alt": "C",
"effect": "3_prime_UTR_variant",
"transcript": "NM_002705.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.*825A>G",
"hgvs_p": null,
"transcript": "NM_002705.5",
"protein_id": "NP_002696.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1756,
"cds_start": null,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6251,
"mane_select": "ENST00000345988.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002705.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.*825A>G",
"hgvs_p": null,
"transcript": "ENST00000345988.7",
"protein_id": "ENSP00000340510.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1756,
"cds_start": null,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6251,
"mane_select": "NM_002705.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345988.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.*825A>G",
"hgvs_p": null,
"transcript": "ENST00000950847.1",
"protein_id": "ENSP00000620906.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1772,
"cds_start": null,
"cds_end": null,
"cds_length": 5319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950847.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.*825A>G",
"hgvs_p": null,
"transcript": "ENST00000923224.1",
"protein_id": "ENSP00000593283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1755,
"cds_start": null,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923224.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.*825A>G",
"hgvs_p": null,
"transcript": "ENST00000923225.1",
"protein_id": "ENSP00000593284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1700,
"cds_start": null,
"cds_end": null,
"cds_length": 5103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923225.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.*825A>G",
"hgvs_p": null,
"transcript": "ENST00000950848.1",
"protein_id": "ENSP00000620907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1666,
"cds_start": null,
"cds_end": null,
"cds_length": 5001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950848.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.*825A>G",
"hgvs_p": null,
"transcript": "XM_017023374.3",
"protein_id": "XP_016878863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1785,
"cds_start": null,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023374.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.*825A>G",
"hgvs_p": null,
"transcript": "XM_017023375.3",
"protein_id": "XP_016878864.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1772,
"cds_start": null,
"cds_end": null,
"cds_length": 5319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023375.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPL",
"gene_hgnc_id": 9273,
"hgvs_c": "c.*825A>G",
"hgvs_p": null,
"transcript": "XM_006720902.5",
"protein_id": "XP_006720965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1769,
"cds_start": null,
"cds_end": null,
"cds_length": 5310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720902.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.*2427T>C",
"hgvs_p": null,
"transcript": "NM_001079514.3",
"protein_id": "NP_001072982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1134,
"cds_start": null,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6443,
"mane_select": "ENST00000262376.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079514.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.*2427T>C",
"hgvs_p": null,
"transcript": "ENST00000262376.11",
"protein_id": "ENSP00000262376.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1134,
"cds_start": null,
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"cds_length": 3405,
"cdna_start": null,
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"cdna_length": 6443,
"mane_select": "NM_001079514.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262376.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.*2427T>C",
"hgvs_p": null,
"transcript": "ENST00000396658.8",
"protein_id": "ENSP00000379894.3",
"transcript_support_level": 1,
"aa_start": null,
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"aa_length": 1134,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 6336,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000396658.8"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.*2427T>C",
"hgvs_p": null,
"transcript": "ENST00000931634.1",
"protein_id": "ENSP00000601693.1",
"transcript_support_level": null,
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"aa_length": 1125,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 6384,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000931634.1"
},
{
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"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "UBN1",
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"hgvs_c": "c.*2427T>C",
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"transcript": "NM_001288656.1",
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"biotype": "protein_coding",
"feature": "NM_001288656.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.*2427T>C",
"hgvs_p": null,
"transcript": "ENST00000879302.1",
"protein_id": "ENSP00000549361.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1104,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879302.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.*2427T>C",
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"transcript": "XM_047434037.1",
"protein_id": "XP_047289993.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047434037.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.*2427T>C",
"hgvs_p": null,
"transcript": "XM_017023190.3",
"protein_id": "XP_016878679.1",
"transcript_support_level": null,
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"aa_length": 1085,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023190.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.*2427T>C",
"hgvs_p": null,
"transcript": "XM_047434039.1",
"protein_id": "XP_047289995.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047434039.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.*2309T>C",
"hgvs_p": null,
"transcript": "XM_011522465.3",
"protein_id": "XP_011520767.1",
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"feature": "XM_011522465.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.*2309T>C",
"hgvs_p": null,
"transcript": "XM_047434040.1",
"protein_id": "XP_047289996.1",
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"biotype": "protein_coding",
"feature": "XM_047434040.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "c.*2427T>C",
"hgvs_p": null,
"transcript": "XM_047434042.1",
"protein_id": "XP_047289998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 4706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434042.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
"gene_hgnc_id": 12506,
"hgvs_c": "n.*158T>C",
"hgvs_p": null,
"transcript": "XR_007064874.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6554,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064874.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBN1",
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"hgvs_c": "n.*158T>C",
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"transcript": "XR_007064875.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 6407,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064875.1"
}
],
"gene_symbol": "PPL",
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"dbsnp": "rs7214",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.469,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_002705.5",
"gene_symbol": "PPL",
"hgnc_id": 9273,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*825A>G",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001079514.3",
"gene_symbol": "UBN1",
"hgnc_id": 12506,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*2427T>C",
"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
}