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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: 15-50017275-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=50017275&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 50017275,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_024837.4",
"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": 28,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATP8B4",
"gene_hgnc_id": 13536,
"hgvs_c": "c.363-6358C>T",
"hgvs_p": null,
"transcript": "NM_024837.4",
"protein_id": "NP_079113.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1192,
"cds_start": -4,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5688,
"mane_select": "ENST00000284509.11",
"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": 28,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATP8B4",
"gene_hgnc_id": 13536,
"hgvs_c": "c.363-6358C>T",
"hgvs_p": null,
"transcript": "ENST00000284509.11",
"protein_id": "ENSP00000284509.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1192,
"cds_start": -4,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5688,
"mane_select": "NM_024837.4",
"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": 27,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATP8B4",
"gene_hgnc_id": 13536,
"hgvs_c": "n.363-6358C>T",
"hgvs_p": null,
"transcript": "ENST00000557955.5",
"protein_id": "ENSP00000453690.1",
"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": 4124,
"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": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ATP8B4",
"gene_hgnc_id": 13536,
"hgvs_c": "n.*81+1614C>T",
"hgvs_p": null,
"transcript": "ENST00000558906.5",
"protein_id": "ENSP00000452956.1",
"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": 4179,
"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": 29,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ATP8B4",
"gene_hgnc_id": 13536,
"hgvs_c": "n.*81+1614C>T",
"hgvs_p": null,
"transcript": "ENST00000559726.5",
"protein_id": "ENSP00000453229.1",
"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": 5783,
"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": 28,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ATP8B4",
"gene_hgnc_id": 13536,
"hgvs_c": "c.363-6358C>T",
"hgvs_p": null,
"transcript": "ENST00000559829.5",
"protein_id": "ENSP00000453169.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1192,
"cds_start": -4,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4894,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "ATP8B4",
"gene_hgnc_id": 13536,
"hgvs_c": "c.363-6358C>T",
"hgvs_p": null,
"transcript": "ENST00000674213.1",
"protein_id": "ENSP00000501334.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": -4,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1392,
"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": "ATP8B4",
"gene_hgnc_id": 13536,
"hgvs_c": "c.144-6358C>T",
"hgvs_p": null,
"transcript": "ENST00000558959.5",
"protein_id": "ENSP00000501481.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": -4,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 783,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "ATP8B4",
"gene_hgnc_id": 13536,
"hgvs_c": "c.198-6358C>T",
"hgvs_p": null,
"transcript": "ENST00000558024.1",
"protein_id": "ENSP00000453143.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": -4,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP8B4",
"gene_hgnc_id": 13536,
"hgvs_c": "n.127-6358C>T",
"hgvs_p": null,
"transcript": "ENST00000560437.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ATP8B4",
"gene_hgnc_id": 13536,
"hgvs_c": "n.603+1614C>T",
"hgvs_p": null,
"transcript": "NR_073596.2",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 27,
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"gene_symbol": "ATP8B4",
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"hgvs_c": "n.516-6358C>T",
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"transcript": "NR_073597.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "ATP8B4",
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"hgvs_c": "n.674+1614C>T",
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"transcript": "NR_073598.2",
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},
{
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"strand": false,
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],
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"intron_rank": 7,
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"gene_symbol": "ATP8B4",
"gene_hgnc_id": 13536,
"hgvs_c": "c.474-6358C>T",
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"transcript": "XM_011522046.3",
"protein_id": "XP_011520348.1",
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},
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],
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"gene_symbol": "ATP8B4",
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},
{
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],
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"intron_rank": 6,
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"gene_symbol": "ATP8B4",
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"hgvs_c": "c.363-6358C>T",
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},
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],
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"gene_symbol": "ATP8B4",
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"transcript": "XM_011522048.2",
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},
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"consequences": [
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],
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"gene_symbol": "ATP8B4",
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"hgvs_c": "c.363-6358C>T",
"hgvs_p": null,
"transcript": "XM_011522049.3",
"protein_id": "XP_011520351.1",
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},
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],
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"intron_rank": 6,
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"gene_symbol": "ATP8B4",
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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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"gene_symbol": "ATP8B4",
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"hgvs_c": "c.363-6358C>T",
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"transcript": "XM_017022591.2",
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},
{
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"consequences": [
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],
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"exon_count": 30,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ATP8B4",
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"hgvs_c": "c.363-6358C>T",
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"transcript": "XM_047433082.1",
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}
],
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}