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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: 5-132757957-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132757957&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132757957,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000378719.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.*864A>T",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.*864A>T",
"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": 9,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.1286+2845A>T",
"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": 9,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.1286+2845A>T",
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "n.4021A>T",
"hgvs_p": null,
"transcript": "XR_007058599.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.*557A>T",
"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,
"cdna_end": null,
"cdna_length": 3941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.*557A>T",
"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,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.*1044A>T",
"hgvs_p": null,
"transcript": "ENST00000378706.5",
"protein_id": "ENSP00000367978.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 430,
"cds_start": -4,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.*864A>T",
"hgvs_p": null,
"transcript": "NM_015146.2",
"protein_id": "NP_055961.1",
"transcript_support_level": null,
"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": 4209,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.*864A>T",
"hgvs_p": null,
"transcript": "NM_001300799.2",
"protein_id": "NP_001287728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 427,
"cds_start": -4,
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"cds_length": 1284,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.*864A>T",
"hgvs_p": null,
"transcript": "ENST00000620483.4",
"protein_id": "ENSP00000483876.1",
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SEPTIN8",
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"transcript": "NM_001098813.2",
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},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 10,
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"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
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},
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"strand": false,
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],
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SEPTIN8",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "SEPTIN8",
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"transcript": "XM_017009261.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "SEPTIN8",
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"hgvs_c": "c.1280+2845A>T",
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"transcript": "ENST00000378721.8",
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},
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],
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"gene_symbol": "SEPTIN8",
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"hgvs_c": "n.70+2845A>T",
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"transcript": "ENST00000481030.1",
"protein_id": null,
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},
{
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"strand": false,
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],
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"intron_rank": 9,
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"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.1286+2845A>T",
"hgvs_p": null,
"transcript": "XM_005271927.4",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "SEPTIN8",
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"transcript": "XM_005271928.4",
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],
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},
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],
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},
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"consequences": [
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],
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"intron_rank": 9,
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"gene_symbol": "SEPTIN8",
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"hgvs_c": "c.1106+2845A>T",
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"protein_id": "XP_016864744.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 9,
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"gene_symbol": "SEPTIN8",
"gene_hgnc_id": 16511,
"hgvs_c": "c.1100+2845A>T",
"hgvs_p": null,
"transcript": "XM_017009256.1",
"protein_id": "XP_016864745.1",
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{
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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}
],
"message": null
}