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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: 12-79420283-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=79420283&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 79420283,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000261205.9",
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.929-23790T>C",
"hgvs_p": null,
"transcript": "NM_005639.3",
"protein_id": "NP_005630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4705,
"mane_select": "ENST00000261205.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.929-23790T>C",
"hgvs_p": null,
"transcript": "ENST00000261205.9",
"protein_id": "ENSP00000261205.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4705,
"mane_select": "NM_005639.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.929-23790T>C",
"hgvs_p": null,
"transcript": "ENST00000393240.7",
"protein_id": "ENSP00000376932.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.929-23790T>C",
"hgvs_p": null,
"transcript": "ENST00000552744.5",
"protein_id": "ENSP00000447575.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.920-23790T>C",
"hgvs_p": null,
"transcript": "ENST00000457153.6",
"protein_id": "ENSP00000391056.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": -4,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.929-23790T>C",
"hgvs_p": null,
"transcript": "NM_001135805.2",
"protein_id": "NP_001129277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.929-23790T>C",
"hgvs_p": null,
"transcript": "NM_001135806.2",
"protein_id": "NP_001129278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.929-23790T>C",
"hgvs_p": null,
"transcript": "NM_001415938.1",
"protein_id": "NP_001402867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.929-23790T>C",
"hgvs_p": null,
"transcript": "NM_001415939.1",
"protein_id": "NP_001402868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.929-23790T>C",
"hgvs_p": null,
"transcript": "NM_001415940.1",
"protein_id": "NP_001402869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4794,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
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"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.929-23790T>C",
"hgvs_p": null,
"transcript": "ENST00000704696.1",
"protein_id": "ENSP00000515993.1",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "SYT1",
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"transcript": "ENST00000704700.1",
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},
{
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],
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"gene_symbol": "SYT1",
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"hgvs_c": "c.929-23790T>C",
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},
{
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],
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"gene_symbol": "SYT1",
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"hgvs_c": "c.929-23790T>C",
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},
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],
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},
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],
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"gene_symbol": "SYT1",
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"hgvs_c": "c.929-23790T>C",
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},
{
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],
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"gene_symbol": "SYT1",
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"transcript": "ENST00000704710.1",
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],
"exon_rank": null,
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],
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"gene_symbol": "SYT1",
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},
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"consequences": [
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],
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"gene_symbol": "SYT1",
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"hgvs_c": "c.920-23790T>C",
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"transcript": "NM_001415941.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "SYT1",
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"transcript": "NM_001415942.1",
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