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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: 5-90507770-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=90507770&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 90507770,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_006467.3",
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.585+1096T>C",
"hgvs_p": null,
"transcript": "NM_006467.3",
"protein_id": "NP_006458.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": null,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3290,
"mane_select": "ENST00000651687.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006467.3"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.585+1096T>C",
"hgvs_p": null,
"transcript": "ENST00000651687.1",
"protein_id": "ENSP00000498469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": null,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3290,
"mane_select": "NM_006467.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651687.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.585+1096T>C",
"hgvs_p": null,
"transcript": "NM_001370351.1",
"protein_id": "NP_001357280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": null,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370351.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.585+1096T>C",
"hgvs_p": null,
"transcript": "NM_001370354.1",
"protein_id": "NP_001357283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": null,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370354.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.585+1096T>C",
"hgvs_p": null,
"transcript": "ENST00000504930.5",
"protein_id": "ENSP00000421637.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": null,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504930.5"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.585+1096T>C",
"hgvs_p": null,
"transcript": "ENST00000859024.1",
"protein_id": "ENSP00000529083.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": null,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859024.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.585+1096T>C",
"hgvs_p": null,
"transcript": "ENST00000859027.1",
"protein_id": "ENSP00000529086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": null,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859027.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.585+1096T>C",
"hgvs_p": null,
"transcript": "ENST00000859028.1",
"protein_id": "ENSP00000529087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": null,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859028.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.585+1096T>C",
"hgvs_p": null,
"transcript": "ENST00000859029.1",
"protein_id": "ENSP00000529088.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": null,
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"cds_length": 672,
"cdna_start": null,
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"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859029.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.585+1096T>C",
"hgvs_p": null,
"transcript": "ENST00000912712.1",
"protein_id": "ENSP00000582771.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": null,
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"cds_length": 672,
"cdna_start": null,
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"cdna_length": 3071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912712.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.585+1096T>C",
"hgvs_p": null,
"transcript": "ENST00000912713.1",
"protein_id": "ENSP00000582772.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 223,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000912713.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.585+1096T>C",
"hgvs_p": null,
"transcript": "ENST00000912714.1",
"protein_id": "ENSP00000582773.1",
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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",
"feature": "ENST00000912714.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
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"gene_symbol": "POLR3G",
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"hgvs_c": "c.585+1096T>C",
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"transcript": "ENST00000912717.1",
"protein_id": "ENSP00000582776.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "POLR3G",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
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"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.585+1096T>C",
"hgvs_p": null,
"transcript": "ENST00000912721.1",
"protein_id": "ENSP00000582780.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "POLR3G",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
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],
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"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.585+1096T>C",
"hgvs_p": null,
"transcript": "ENST00000912729.1",
"protein_id": "ENSP00000582788.1",
"transcript_support_level": null,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.585+1096T>C",
"hgvs_p": null,
"transcript": "ENST00000912730.1",
"protein_id": "ENSP00000582789.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "POLR3G",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "POLR3G",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.582+1096T>C",
"hgvs_p": null,
"transcript": "NM_001370352.1",
"protein_id": "NP_001357281.1",
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370352.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POLR3G",
"gene_hgnc_id": 30075,
"hgvs_c": "c.582+1096T>C",
"hgvs_p": null,
"transcript": "NM_001370353.1",
"protein_id": "NP_001357282.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 222,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001370353.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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