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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: 1-54048154-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=54048154&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 54048154,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001305043.2",
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.190-782A>G",
"hgvs_p": null,
"transcript": "NM_004872.5",
"protein_id": "NP_004863.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6457,
"mane_select": "ENST00000234831.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004872.5"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.190-782A>G",
"hgvs_p": null,
"transcript": "ENST00000234831.10",
"protein_id": "ENSP00000234831.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6457,
"mane_select": "NM_004872.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000234831.10"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.190-782A>G",
"hgvs_p": null,
"transcript": "ENST00000864587.1",
"protein_id": "ENSP00000534646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864587.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.190-782A>G",
"hgvs_p": null,
"transcript": "ENST00000864584.1",
"protein_id": "ENSP00000534643.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": null,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864584.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.253-782A>G",
"hgvs_p": null,
"transcript": "ENST00000864586.1",
"protein_id": "ENSP00000534645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": null,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1186,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864586.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.222+496A>G",
"hgvs_p": null,
"transcript": "ENST00000864582.1",
"protein_id": "ENSP00000534641.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864582.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.190-782A>G",
"hgvs_p": null,
"transcript": "NM_001305043.2",
"protein_id": "NP_001291972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": null,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305043.2"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.190-782A>G",
"hgvs_p": null,
"transcript": "ENST00000864578.1",
"protein_id": "ENSP00000534637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": null,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864578.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.190-782A>G",
"hgvs_p": null,
"transcript": "ENST00000864581.1",
"protein_id": "ENSP00000534640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864581.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.190-782A>G",
"hgvs_p": null,
"transcript": "ENST00000864580.1",
"protein_id": "ENSP00000534639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
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"cds_length": 969,
"cdna_start": null,
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"cdna_length": 1694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864580.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.190-782A>G",
"hgvs_p": null,
"transcript": "ENST00000864583.1",
"protein_id": "ENSP00000534642.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "TMEM59",
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"hgvs_c": "c.190-782A>G",
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"transcript": "ENST00000864588.1",
"protein_id": "ENSP00000534647.1",
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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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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "TMEM59",
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"hgvs_c": "c.222+496A>G",
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"transcript": "ENST00000452421.5",
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},
{
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"strand": false,
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],
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"gene_symbol": "TMEM59",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.190-4629A>G",
"hgvs_p": null,
"transcript": "NM_001305050.2",
"protein_id": "NP_001291979.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001305050.2"
},
{
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"consequences": [
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],
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "TMEM59",
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"hgvs_c": "c.189+4846A>G",
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"transcript": "ENST00000864585.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000864585.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.-204-782A>G",
"hgvs_p": null,
"transcript": "NM_001305049.1",
"protein_id": "NP_001291978.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001305049.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.-204-782A>G",
"hgvs_p": null,
"transcript": "NM_001305051.1",
"protein_id": "NP_001291980.1",
"transcript_support_level": null,
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"cds_start": null,
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},
{
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "TMEM59",
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"hgvs_c": "c.-98-2368A>G",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "TMEM59",
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"hgvs_c": "c.-204-782A>G",
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"transcript": "ENST00000371341.5",
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},
{
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"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "TMEM59",
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"hgvs_c": "c.190-782A>G",
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"transcript": "NM_001305066.2",
"protein_id": "NP_001291995.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305066.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM59",
"gene_hgnc_id": 1239,
"hgvs_c": "c.190-782A>G",
"hgvs_p": null,
"transcript": "ENST00000371337.3",
"protein_id": "ENSP00000360388.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 145,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371337.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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{
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"clinvar_disease": "",
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"custom_annotations": null
}
],
"message": null
}