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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: 16-20732150-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=20732150&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 20732150,
"ref": "A",
"alt": "G",
"effect": "intragenic_variant",
"transcript": null,
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": null,
"strand": true,
"consequences": [
"intragenic_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": null,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC100887080",
"gene_hgnc_id": null,
"hgvs_c": "n.20732150A>G",
"hgvs_p": null,
"transcript": null,
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-189-17760A>G",
"hgvs_p": null,
"transcript": "ENST00000568235.5",
"protein_id": "ENSP00000457003.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": -4,
"cds_end": null,
"cds_length": 301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-189-17760A>G",
"hgvs_p": null,
"transcript": "ENST00000561584.5",
"protein_id": "ENSP00000456055.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 51,
"cds_start": -4,
"cds_end": null,
"cds_length": 157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "n.606-17115A>G",
"hgvs_p": null,
"transcript": "ENST00000501740.6",
"protein_id": null,
"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": 839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "THUMPD1",
"gene_hgnc_id": 23807,
"hgvs_c": "n.*21-566T>C",
"hgvs_p": null,
"transcript": "ENST00000636554.1",
"protein_id": "ENSP00000490841.1",
"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": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283399",
"gene_hgnc_id": null,
"hgvs_c": "n.1245+410A>G",
"hgvs_p": null,
"transcript": "ENST00000637768.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-294+411A>G",
"hgvs_p": null,
"transcript": "XM_047434419.1",
"protein_id": "XP_047290375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-294+411A>G",
"hgvs_p": null,
"transcript": "XM_047434420.1",
"protein_id": "XP_047290376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-294+2597A>G",
"hgvs_p": null,
"transcript": "XM_047434421.1",
"protein_id": "XP_047290377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-294+411A>G",
"hgvs_p": null,
"transcript": "XM_047434422.1",
"protein_id": "XP_047290378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5818,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-294+411A>G",
"hgvs_p": null,
"transcript": "XM_047434423.1",
"protein_id": "XP_047290379.1",
"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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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 4,
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"gene_symbol": "ACSM3",
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"hgvs_c": "c.-242+2597A>G",
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"transcript": "XM_047434424.1",
"protein_id": "XP_047290380.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 2,
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"gene_symbol": "ACSM3",
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"hgvs_c": "c.-293-17115A>G",
"hgvs_p": null,
"transcript": "XM_047434425.1",
"protein_id": "XP_047290381.1",
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},
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],
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"intron_rank": 3,
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"gene_symbol": "ACSM3",
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"hgvs_c": "c.-294+411A>G",
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"transcript": "XM_047434426.1",
"protein_id": "XP_047290382.1",
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},
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],
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},
{
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"strand": true,
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],
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"intron_rank": 4,
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"gene_symbol": "ACSM3",
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"hgvs_c": "c.-294+411A>G",
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"transcript": "XM_047434428.1",
"protein_id": "XP_047290384.1",
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},
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],
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"hgvs_c": "c.-190+13657A>G",
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"transcript": "XM_047434429.1",
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},
{
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],
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"intron_rank": 2,
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"gene_symbol": "ACSM3",
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"hgvs_c": "c.-189-17760A>G",
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"transcript": "XM_047434430.1",
"protein_id": "XP_047290386.1",
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 2,
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"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-201-17207A>G",
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"transcript": "XM_047434431.1",
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],
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],
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},
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],
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"gene_symbol": "ACSM3",
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"hgvs_c": "c.-294+411A>G",
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"transcript": "XM_024450368.2",
"protein_id": "XP_024306136.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-294+2597A>G",
"hgvs_p": null,
"transcript": "XM_047434435.1",
"protein_id": "XP_047290391.1",
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},
{
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"protein_coding": true,
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"consequences": [
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{
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{
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}
],
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}