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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: 6-15536551-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=15536551&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 15536551,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000344537.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.512-3156A>G",
"hgvs_p": null,
"transcript": "NM_032122.5",
"protein_id": "NP_115498.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": -4,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1383,
"mane_select": "ENST00000344537.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.512-3156A>G",
"hgvs_p": null,
"transcript": "ENST00000344537.10",
"protein_id": "ENSP00000341680.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": -4,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1383,
"mane_select": "NM_032122.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.407-3156A>G",
"hgvs_p": null,
"transcript": "ENST00000622898.4",
"protein_id": "ENSP00000481997.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.512-3156A>G",
"hgvs_p": null,
"transcript": "ENST00000338950.9",
"protein_id": "ENSP00000344718.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": -4,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1880,
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "n.*510-3156A>G",
"hgvs_p": null,
"transcript": "ENST00000506844.1",
"protein_id": "ENSP00000424202.1",
"transcript_support_level": 1,
"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": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.461-3156A>G",
"hgvs_p": null,
"transcript": "NM_001271668.2",
"protein_id": "NP_001258597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.461-3156A>G",
"hgvs_p": null,
"transcript": "ENST00000355917.7",
"protein_id": "ENSP00000348183.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.407-3156A>G",
"hgvs_p": null,
"transcript": "NM_001271669.2",
"protein_id": "NP_001258598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.512-3156A>G",
"hgvs_p": null,
"transcript": "NM_183040.2",
"protein_id": "NP_898861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": -4,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.269-3156A>G",
"hgvs_p": null,
"transcript": "NM_001271667.2",
"protein_id": "NP_001258596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.407-3156A>G",
"hgvs_p": null,
"transcript": "ENST00000511762.2",
"protein_id": "ENSP00000427473.2",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "DTNBP1",
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"hgvs_c": "c.44-3156A>G",
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"transcript": "ENST00000462989.6",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "DTNBP1",
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"hgvs_c": "c.-38-3156A>G",
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"transcript": "ENST00000509674.1",
"protein_id": "ENSP00000421797.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "DTNBP1",
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"hgvs_c": "n.*422-3156A>G",
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"transcript": "ENST00000510395.5",
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},
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],
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"gene_symbol": "DTNBP1",
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"hgvs_c": "n.*510-3156A>G",
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"transcript": "ENST00000513680.5",
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},
{
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],
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"exon_count": 9,
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"gene_symbol": "DTNBP1",
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"hgvs_c": "n.461-3156A>G",
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"transcript": "ENST00000515875.5",
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},
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],
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"hgvs_c": "n.92-1163T>C",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "ENSG00000287626",
"gene_hgnc_id": 58090,
"hgvs_c": "n.92-1163T>C",
"hgvs_p": null,
"transcript": "ENST00000824859.1",
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},
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "ENSG00000287626",
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"hgvs_c": "n.425+931T>C",
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},
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],
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},
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],
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"gene_symbol": "DTNBP1",
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},
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],
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"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.473-3156A>G",
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"transcript": "XM_047419394.1",
"protein_id": "XP_047275350.1",
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DTNBP1",
"gene_hgnc_id": 17328,
"hgvs_c": "c.422-3156A>G",
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"transcript": "XM_047419395.1",
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},
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"BA1"
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{
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{
"score": -12,
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}
],
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}