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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: 12-78921400-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=78921400&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 78921400,
"ref": "G",
"alt": "A",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.-217+56291G>A",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.-217+56291G>A",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.-217+56291G>A",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.-151+56291G>A",
"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": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.-18371G>A",
"hgvs_p": null,
"transcript": "XM_047429479.1",
"protein_id": "XP_047285435.1",
"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": 49557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.-18305G>A",
"hgvs_p": null,
"transcript": "XM_047429480.1",
"protein_id": "XP_047285436.1",
"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": 49491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.-17370G>A",
"hgvs_p": null,
"transcript": "XM_047429482.1",
"protein_id": "XP_047285438.1",
"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": 48556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.-6419G>A",
"hgvs_p": null,
"transcript": "XM_047429483.1",
"protein_id": "XP_047285439.1",
"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": 37605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.-18371G>A",
"hgvs_p": null,
"transcript": "XM_047429484.1",
"protein_id": "XP_047285440.1",
"transcript_support_level": null,
"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": 49548,
"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,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.-217+56291G>A",
"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,
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"cdna_start": null,
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"cdna_length": 4835,
"mane_select": null,
"mane_plus": null,
"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": 10,
"intron_rank": 1,
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"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.-151+56291G>A",
"hgvs_p": null,
"transcript": "NM_001415938.1",
"protein_id": "NP_001402867.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "SYT1",
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"hgvs_c": "c.-259+56291G>A",
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"transcript": "NM_001415939.1",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "SYT1",
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"hgvs_c": "c.-306+56291G>A",
"hgvs_p": null,
"transcript": "NM_001415940.1",
"protein_id": "NP_001402869.1",
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},
{
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "SYT1",
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"hgvs_c": "c.-346-16751G>A",
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"transcript": "ENST00000704696.1",
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},
{
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],
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"gene_symbol": "SYT1",
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"transcript": "ENST00000704700.1",
"protein_id": "ENSP00000515997.1",
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},
{
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],
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"gene_symbol": "SYT1",
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"hgvs_c": "c.-354-13750G>A",
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"transcript": "ENST00000704702.1",
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},
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],
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"gene_symbol": "SYT1",
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"hgvs_c": "c.-292+56291G>A",
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"transcript": "ENST00000704704.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.-453-32827G>A",
"hgvs_p": null,
"transcript": "ENST00000704705.1",
"protein_id": "ENSP00000516002.1",
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},
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "SYT1",
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"hgvs_c": "c.-443-5197G>A",
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],
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},
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],
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},
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.-306+56291G>A",
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"transcript": "ENST00000704714.1",
"protein_id": "ENSP00000516009.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "SYT1",
"gene_hgnc_id": 11509,
"hgvs_c": "c.-321-34062G>A",
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"transcript": "ENST00000704718.1",
"protein_id": "ENSP00000516013.1",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}