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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: 14-71520348-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=71520348&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 71520348,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_015556.4",
"consequences": [
{
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.-362+7503A>G",
"hgvs_p": null,
"transcript": "NM_001386936.1",
"protein_id": "NP_001373865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1783,
"cds_start": null,
"cds_end": null,
"cds_length": 5352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7952,
"mane_select": "ENST00000381232.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386936.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.-362+7503A>G",
"hgvs_p": null,
"transcript": "ENST00000381232.8",
"protein_id": "ENSP00000370630.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1783,
"cds_start": null,
"cds_end": null,
"cds_length": 5352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7952,
"mane_select": "NM_001386936.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381232.8"
},
{
"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": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.-362+7503A>G",
"hgvs_p": null,
"transcript": "ENST00000962884.1",
"protein_id": "ENSP00000632943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1845,
"cds_start": null,
"cds_end": null,
"cds_length": 5538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962884.1"
},
{
"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": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.-362+7503A>G",
"hgvs_p": null,
"transcript": "ENST00000869393.1",
"protein_id": "ENSP00000539452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1844,
"cds_start": null,
"cds_end": null,
"cds_length": 5535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869393.1"
},
{
"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": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.-362+7503A>G",
"hgvs_p": null,
"transcript": "ENST00000962888.1",
"protein_id": "ENSP00000632947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1844,
"cds_start": null,
"cds_end": null,
"cds_length": 5535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962888.1"
},
{
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.-362+7503A>G",
"hgvs_p": null,
"transcript": "ENST00000962885.1",
"protein_id": "ENSP00000632944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1812,
"cds_start": null,
"cds_end": null,
"cds_length": 5439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962885.1"
},
{
"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": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.-362+7503A>G",
"hgvs_p": null,
"transcript": "NM_001354285.2",
"protein_id": "NP_001341214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1804,
"cds_start": null,
"cds_end": null,
"cds_length": 5415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354285.2"
},
{
"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": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.-362+7503A>G",
"hgvs_p": null,
"transcript": "NM_015556.4",
"protein_id": "NP_056371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1804,
"cds_start": null,
"cds_end": null,
"cds_length": 5415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015556.4"
},
{
"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": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.-415+7503A>G",
"hgvs_p": null,
"transcript": "ENST00000936042.1",
"protein_id": "ENSP00000606101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1804,
"cds_start": null,
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"cds_length": 5415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936042.1"
},
{
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.-362+7503A>G",
"hgvs_p": null,
"transcript": "NM_001284247.3",
"protein_id": "NP_001271176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1803,
"cds_start": null,
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"cds_length": 5412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284247.3"
},
{
"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": 26,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.-362+7503A>G",
"hgvs_p": null,
"transcript": "ENST00000869388.1",
"protein_id": "ENSP00000539447.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1803,
"cds_start": null,
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"cdna_start": null,
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},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.-362+7503A>G",
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"transcript": "ENST00000936028.1",
"protein_id": "ENSP00000606087.1",
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"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
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"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
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"hgvs_c": "c.-362+7503A>G",
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"transcript": "ENST00000936053.1",
"protein_id": "ENSP00000606112.1",
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "SIPA1L1",
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"hgvs_c": "c.-362+7503A>G",
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"transcript": "ENST00000962882.1",
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"biotype": "protein_coding",
"feature": "ENST00000962882.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.-404+7503A>G",
"hgvs_p": null,
"transcript": "NM_001284245.3",
"protein_id": "NP_001271174.1",
"transcript_support_level": null,
"aa_start": null,
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"biotype": "protein_coding",
"feature": "NM_001284245.3"
},
{
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],
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"gene_symbol": "SIPA1L1",
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"hgvs_c": "c.-362+7503A>G",
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"biotype": "protein_coding",
"feature": "ENST00000869378.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 4,
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"gene_symbol": "SIPA1L1",
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"hgvs_c": "c.-362+7503A>G",
"hgvs_p": null,
"transcript": "ENST00000869380.1",
"protein_id": "ENSP00000539439.1",
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"feature": "ENST00000869380.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.-362+7503A>G",
"hgvs_p": null,
"transcript": "ENST00000869383.1",
"protein_id": "ENSP00000539442.1",
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},
{
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"strand": true,
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],
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"hgvs_c": "c.-469+7503A>G",
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},
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"strand": true,
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],
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"gene_symbol": "SIPA1L1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.-415+7503A>G",
"hgvs_p": null,
"transcript": "ENST00000869389.1",
"protein_id": "ENSP00000539448.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000869389.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.-362+7503A>G",
"hgvs_p": null,
"transcript": "ENST00000869390.1",
"protein_id": "ENSP00000539449.1",
"transcript_support_level": null,
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"mane_select": null,
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