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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: 1-245802249-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=245802249&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 245802249,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000490107.6",
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SMYD3",
"gene_hgnc_id": 15513,
"hgvs_c": "c.1077-38100T>A",
"hgvs_p": null,
"transcript": "NM_001167740.2",
"protein_id": "NP_001161212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": -4,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1565,
"mane_select": "ENST00000490107.6",
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SMYD3",
"gene_hgnc_id": 15513,
"hgvs_c": "c.1077-38100T>A",
"hgvs_p": null,
"transcript": "ENST00000490107.6",
"protein_id": "ENSP00000419184.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": -4,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1565,
"mane_select": "NM_001167740.2",
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SMYD3",
"gene_hgnc_id": 15513,
"hgvs_c": "n.1432-38100T>A",
"hgvs_p": null,
"transcript": "ENST00000366516.5",
"protein_id": null,
"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": 1863,
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SMYD3",
"gene_hgnc_id": 15513,
"hgvs_c": "n.941-38100T>A",
"hgvs_p": null,
"transcript": "ENST00000366517.5",
"protein_id": null,
"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": 1372,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SMYD3",
"gene_hgnc_id": 15513,
"hgvs_c": "c.966-38100T>A",
"hgvs_p": null,
"transcript": "NM_001375962.1",
"protein_id": "NP_001362891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1454,
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SMYD3",
"gene_hgnc_id": 15513,
"hgvs_c": "c.900-38100T>A",
"hgvs_p": null,
"transcript": "NM_001375963.1",
"protein_id": "NP_001362892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": -4,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1456,
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SMYD3",
"gene_hgnc_id": 15513,
"hgvs_c": "c.900-38100T>A",
"hgvs_p": null,
"transcript": "NM_022743.3",
"protein_id": "NP_073580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": -4,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
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"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SMYD3",
"gene_hgnc_id": 15513,
"hgvs_c": "c.900-38100T>A",
"hgvs_p": null,
"transcript": "ENST00000630181.2",
"protein_id": "ENSP00000487434.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": -4,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1458,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "SMYD3",
"gene_hgnc_id": 15513,
"hgvs_c": "c.510-38100T>A",
"hgvs_p": null,
"transcript": "NM_001375965.1",
"protein_id": "NP_001362894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": -4,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1130,
"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 7,
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"gene_symbol": "SMYD3",
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"hgvs_c": "c.501-38100T>A",
"hgvs_p": null,
"transcript": "NM_001375966.1",
"protein_id": "NP_001362895.1",
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"aa_start": 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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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
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"gene_symbol": "SMYD3",
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"hgvs_c": "n.619+12093T>A",
"hgvs_p": null,
"transcript": "ENST00000470510.5",
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},
{
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],
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},
{
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],
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{
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],
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],
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},
{
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],
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"gene_symbol": "SMYD3",
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},
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],
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],
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},
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],
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"intron_rank": 6,
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"gene_symbol": "SMYD3",
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}
],
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}