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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: 15-99210240-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=99210240&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 99210240,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000394132.7",
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TTC23",
"gene_hgnc_id": 25730,
"hgvs_c": "c.581+8348T>C",
"hgvs_p": null,
"transcript": "NM_001288615.3",
"protein_id": "NP_001275544.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3872,
"mane_select": "ENST00000394132.7",
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TTC23",
"gene_hgnc_id": 25730,
"hgvs_c": "c.581+8348T>C",
"hgvs_p": null,
"transcript": "ENST00000394132.7",
"protein_id": "ENSP00000377690.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3872,
"mane_select": "NM_001288615.3",
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TTC23",
"gene_hgnc_id": 25730,
"hgvs_c": "n.581+8348T>C",
"hgvs_p": null,
"transcript": "ENST00000459771.5",
"protein_id": "ENSP00000433162.1",
"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": 3538,
"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": "TTC23",
"gene_hgnc_id": 25730,
"hgvs_c": "c.581+8348T>C",
"hgvs_p": null,
"transcript": "NM_001288616.3",
"protein_id": "NP_001275545.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3300,
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TTC23",
"gene_hgnc_id": 25730,
"hgvs_c": "c.581+8348T>C",
"hgvs_p": null,
"transcript": "NM_001353869.2",
"protein_id": "NP_001340798.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3422,
"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": "TTC23",
"gene_hgnc_id": 25730,
"hgvs_c": "c.581+8348T>C",
"hgvs_p": null,
"transcript": "ENST00000394135.7",
"protein_id": "ENSP00000377692.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2496,
"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": "TTC23",
"gene_hgnc_id": 25730,
"hgvs_c": "c.581+8348T>C",
"hgvs_p": null,
"transcript": "ENST00000558663.5",
"protein_id": "ENSP00000452923.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2068,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "TTC23",
"gene_hgnc_id": 25730,
"hgvs_c": "c.581+8348T>C",
"hgvs_p": null,
"transcript": "ENST00000262074.8",
"protein_id": "ENSP00000262074.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3316,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "TTC23",
"gene_hgnc_id": 25730,
"hgvs_c": "c.581+8348T>C",
"hgvs_p": null,
"transcript": "ENST00000394129.6",
"protein_id": "ENSP00000457901.1",
"transcript_support_level": 2,
"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": 2505,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTC23",
"gene_hgnc_id": 25730,
"hgvs_c": "n.585+8348T>C",
"hgvs_p": null,
"transcript": "ENST00000494567.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 2952,
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TTC23",
"gene_hgnc_id": 25730,
"hgvs_c": "n.1083+8348T>C",
"hgvs_p": null,
"transcript": "NR_109947.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"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": 13,
"intron_rank": 6,
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"gene_symbol": "TTC23",
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"hgvs_c": "c.626+8348T>C",
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"transcript": "XM_047432952.1",
"protein_id": "XP_047288908.1",
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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": 13,
"intron_rank": 6,
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"gene_symbol": "TTC23",
"gene_hgnc_id": 25730,
"hgvs_c": "c.626+8348T>C",
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"transcript": "XM_047432953.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
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"gene_symbol": "TTC23",
"gene_hgnc_id": 25730,
"hgvs_c": "c.626+8348T>C",
"hgvs_p": null,
"transcript": "XM_011521927.3",
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},
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],
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"gene_symbol": "TTC23",
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"hgvs_c": "c.581+8348T>C",
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"transcript": "XM_011521935.2",
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},
{
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"strand": false,
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],
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"intron_rank": 6,
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"gene_symbol": "TTC23",
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"hgvs_c": "c.581+8348T>C",
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"transcript": "XM_011521936.2",
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],
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"gene_symbol": "TTC23",
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"hgvs_c": "c.581+8348T>C",
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"transcript": "XM_011521939.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "TTC23",
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"hgvs_c": "c.581+8348T>C",
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"transcript": "XM_024450028.2",
"protein_id": "XP_024305796.1",
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},
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 7,
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"gene_symbol": "TTC23",
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"hgvs_c": "c.581+8348T>C",
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},
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],
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"gene_symbol": "TTC23",
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},
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],
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},
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"consequences": [
"intron_variant"
],
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"intron_rank": 6,
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"gene_symbol": "TTC23",
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"hgvs_c": "c.581+8348T>C",
"hgvs_p": null,
"transcript": "XM_017022518.2",
"protein_id": "XP_016878007.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TTC23",
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"hgvs_c": "c.626+8348T>C",
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"transcript": "XM_047432957.1",
"protein_id": "XP_047288913.1",
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}
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}