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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: 15-45181911-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=45181911&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 45181911,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000690270.1",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.499-3605C>T",
"hgvs_p": null,
"transcript": "NM_001394037.1",
"protein_id": "NP_001380966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": "ENST00000690270.1",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.499-3605C>T",
"hgvs_p": null,
"transcript": "ENST00000690270.1",
"protein_id": "ENSP00000508579.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": "NM_001394037.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124903481",
"gene_hgnc_id": null,
"hgvs_c": "n.3608G>A",
"hgvs_p": null,
"transcript": "XR_007064608.1",
"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": 8859,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.499-3605C>T",
"hgvs_p": null,
"transcript": "NM_001301168.2",
"protein_id": "NP_001288097.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": -4,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2074,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.304-3605C>T",
"hgvs_p": null,
"transcript": "NM_138356.3",
"protein_id": "NP_612365.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": -4,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2441,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.304-3605C>T",
"hgvs_p": null,
"transcript": "ENST00000290894.12",
"protein_id": "ENSP00000290894.8",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": -4,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2500,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.499-3605C>T",
"hgvs_p": null,
"transcript": "NM_001394038.1",
"protein_id": "NP_001380967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2213,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.499-3605C>T",
"hgvs_p": null,
"transcript": "ENST00000560471.5",
"protein_id": "ENSP00000453260.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2499,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.499-3605C>T",
"hgvs_p": null,
"transcript": "NM_001394039.1",
"protein_id": "NP_001380968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": -4,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1978,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.499-3605C>T",
"hgvs_p": null,
"transcript": "NM_001394040.1",
"protein_id": "NP_001380969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2025,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.499-3605C>T",
"hgvs_p": null,
"transcript": "NM_001301169.2",
"protein_id": "NP_001288098.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": -4,
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"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.499-3605C>T",
"hgvs_p": null,
"transcript": "ENST00000560540.5",
"protein_id": "ENSP00000453370.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.304-3605C>T",
"hgvs_p": null,
"transcript": "NM_001394041.1",
"protein_id": "NP_001380970.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 349,
"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.499-3605C>T",
"hgvs_p": null,
"transcript": "NM_001394042.1",
"protein_id": "NP_001380971.1",
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},
{
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"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "SHF",
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"hgvs_c": "c.304-3605C>T",
"hgvs_p": null,
"transcript": "NM_001394043.1",
"protein_id": "NP_001380972.1",
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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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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.499-3605C>T",
"hgvs_p": null,
"transcript": "NM_001394044.1",
"protein_id": "NP_001380973.1",
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},
{
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],
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"gene_symbol": "SHF",
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"hgvs_c": "c.499-3605C>T",
"hgvs_p": null,
"transcript": "NM_001301170.2",
"protein_id": "NP_001288099.2",
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.499-3605C>T",
"hgvs_p": null,
"transcript": "ENST00000560734.5",
"protein_id": "ENSP00000453168.1",
"transcript_support_level": 3,
"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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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.304-3605C>T",
"hgvs_p": null,
"transcript": "NM_001394045.1",
"protein_id": "NP_001380974.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 2,
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"gene_symbol": "SHF",
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"transcript": "NM_001394046.1",
"protein_id": "NP_001380975.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.-108-3605C>T",
"hgvs_p": null,
"transcript": "NM_001394047.1",
"protein_id": "NP_001380976.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.-108-3605C>T",
"hgvs_p": null,
"transcript": "NM_001394048.1",
"protein_id": "NP_001380977.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 88,
"cds_start": -4,
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"cdna_start": null,
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"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SHF",
"gene_hgnc_id": 25116,
"hgvs_c": "c.-108-3605C>T",
"hgvs_p": null,
"transcript": "ENST00000561278.1",
"protein_id": "ENSP00000453986.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 25,
"cds_start": -4,
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"cds_length": 80,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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{
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}
],
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}