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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: 5-132770869-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132770869&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132770869,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000378719.7",
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.31-5340T>A",
"hgvs_p": null,
"transcript": "NM_001098811.2",
"protein_id": "NP_001092281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2751,
"mane_select": "ENST00000378719.7",
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.31-5340T>A",
"hgvs_p": null,
"transcript": "ENST00000378719.7",
"protein_id": "ENSP00000367991.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2751,
"mane_select": "NM_001098811.2",
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.31-5340T>A",
"hgvs_p": null,
"transcript": "ENST00000296873.11",
"protein_id": "ENSP00000296873.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 429,
"cds_start": -4,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4394,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.-150-5340T>A",
"hgvs_p": null,
"transcript": "ENST00000448933.5",
"protein_id": "ENSP00000399840.1",
"transcript_support_level": 1,
"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": 4270,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.31-5340T>A",
"hgvs_p": null,
"transcript": "ENST00000378721.8",
"protein_id": "ENSP00000367993.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1723,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.31-5340T>A",
"hgvs_p": null,
"transcript": "NM_001098812.2",
"protein_id": "NP_001092282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": -4,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
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"cdna_length": 3941,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.31-5340T>A",
"hgvs_p": null,
"transcript": "ENST00000458488.2",
"protein_id": "ENSP00000394766.2",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 442,
"cds_start": -4,
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"mane_select": null,
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"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.31-5340T>A",
"hgvs_p": null,
"transcript": "NM_001300798.2",
"protein_id": "NP_001287727.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.31-5340T>A",
"hgvs_p": null,
"transcript": "ENST00000378701.5",
"protein_id": "ENSP00000367973.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"intron_variant"
],
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"gene_symbol": "SEPTIN8",
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"hgvs_c": "c.31-5340T>A",
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"transcript": "ENST00000378706.5",
"protein_id": "ENSP00000367978.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "SEPTIN8",
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"hgvs_c": "c.31-5340T>A",
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},
{
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},
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],
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"gene_symbol": "SEPTIN8",
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},
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],
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],
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},
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],
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