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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: 2-60452091-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=60452091&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 60452091,
"ref": "G",
"alt": "C",
"effect": "non_coding_transcript_exon_variant",
"transcript": "ENST00000647472.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.*484C>G",
"hgvs_p": null,
"transcript": "ENST00000356842.9",
"protein_id": "ENSP00000349300.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 773,
"cds_start": -4,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.*474C>G",
"hgvs_p": null,
"transcript": "ENST00000359629.10",
"protein_id": "ENSP00000352648.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": -4,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "n.*820C>G",
"hgvs_p": null,
"transcript": "ENST00000647472.1",
"protein_id": "ENSP00000496588.1",
"transcript_support_level": null,
"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": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.*474C>G",
"hgvs_p": null,
"transcript": "NM_001363864.1",
"protein_id": "NP_001350793.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 793,
"cds_start": -4,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.*484C>G",
"hgvs_p": null,
"transcript": "NM_018014.4",
"protein_id": "NP_060484.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 773,
"cds_start": -4,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.*474C>G",
"hgvs_p": null,
"transcript": "NM_138559.2",
"protein_id": "NP_612569.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": -4,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.*474C>G",
"hgvs_p": null,
"transcript": "ENST00000489516.7",
"protein_id": "ENSP00000488390.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": -4,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.*474C>G",
"hgvs_p": null,
"transcript": "ENST00000646249.1",
"protein_id": "ENSP00000495759.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 209,
"cds_start": -4,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "n.*820C>G",
"hgvs_p": null,
"transcript": "ENST00000647472.1",
"protein_id": "ENSP00000496588.1",
"transcript_support_level": null,
"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": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.*578C>G",
"hgvs_p": null,
"transcript": "NM_001405708.1",
"protein_id": "NP_001392637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 835,
"cds_start": -4,
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"cds_length": 2508,
"cdna_start": null,
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"cdna_length": 3403,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.*474C>G",
"hgvs_p": null,
"transcript": "NM_001405710.1",
"protein_id": "NP_001392639.1",
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"aa_start": null,
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"aa_length": 827,
"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": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "BCL11A",
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"hgvs_c": "c.*578C>G",
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"transcript": "NM_001405712.1",
"protein_id": "NP_001392641.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.*578C>G",
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"transcript": "NM_001405715.1",
"protein_id": "NP_001392644.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "BCL11A",
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"hgvs_c": "c.*474C>G",
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"transcript": "NM_001405716.1",
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},
{
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],
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"gene_symbol": "BCL11A",
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"hgvs_c": "c.*578C>G",
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"transcript": "NM_001405718.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "BCL11A",
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"hgvs_c": "c.*484C>G",
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"transcript": "NM_001405719.1",
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},
{
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],
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"gene_symbol": "BCL11A",
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"hgvs_c": "c.*484C>G",
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"transcript": "NM_001405722.1",
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},
{
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"consequences": [
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],
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "BCL11A",
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"hgvs_c": "c.*484C>G",
"hgvs_p": null,
"transcript": "NM_001405723.1",
"protein_id": "NP_001392652.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "BCL11A",
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"hgvs_c": "c.*484C>G",
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"transcript": "NM_001405724.1",
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},
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],
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},
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],
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.*484C>G",
"hgvs_p": null,
"transcript": "NM_001405731.1",
"protein_id": "NP_001392660.1",
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"cds_start": -4,
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"biotype": null,
"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": 6,
"intron_rank": null,
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"gene_symbol": "BCL11A",
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"hgvs_c": "c.*474C>G",
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"transcript": "NM_001405732.1",
"protein_id": "NP_001392661.1",
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}
],
"message": null
}