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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: 2-108872909-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=108872909&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 108872909,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000295124.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.1694-542A>G",
"hgvs_p": null,
"transcript": "NM_144978.3",
"protein_id": "NP_659415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 665,
"cds_start": -4,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2375,
"mane_select": "ENST00000295124.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.1694-542A>G",
"hgvs_p": null,
"transcript": "ENST00000295124.9",
"protein_id": "ENSP00000295124.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 665,
"cds_start": -4,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2375,
"mane_select": "NM_144978.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.1694-3179A>G",
"hgvs_p": null,
"transcript": "ENST00000412964.6",
"protein_id": "ENSP00000411800.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": -4,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.1712-542A>G",
"hgvs_p": null,
"transcript": "NM_001351544.2",
"protein_id": "NP_001338473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 671,
"cds_start": -4,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.1679-542A>G",
"hgvs_p": null,
"transcript": "NM_001351545.1",
"protein_id": "NP_001338474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 660,
"cds_start": -4,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.1568-542A>G",
"hgvs_p": null,
"transcript": "NM_001351548.1",
"protein_id": "NP_001338477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": -4,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.1517-542A>G",
"hgvs_p": null,
"transcript": "NM_001351549.2",
"protein_id": "NP_001338478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.1514-542A>G",
"hgvs_p": null,
"transcript": "NM_001351551.2",
"protein_id": "NP_001338480.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": -4,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.1712-3179A>G",
"hgvs_p": null,
"transcript": "NM_001351553.2",
"protein_id": "NP_001338482.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": -4,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.1709-3179A>G",
"hgvs_p": null,
"transcript": "NM_001351554.2",
"protein_id": "NP_001338483.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": -4,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.1694-3179A>G",
"hgvs_p": null,
"transcript": "NM_001303105.2",
"protein_id": "NP_001290034.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 577,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2236,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.1691-3179A>G",
"hgvs_p": null,
"transcript": "NM_001351555.2",
"protein_id": "NP_001338484.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.1562-9762A>G",
"hgvs_p": null,
"transcript": "NM_001351557.1",
"protein_id": "NP_001338486.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 545,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.1207-542A>G",
"hgvs_p": null,
"transcript": "NM_001351559.2",
"protein_id": "NP_001338488.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.1192-542A>G",
"hgvs_p": null,
"transcript": "NM_001351561.1",
"protein_id": "NP_001338490.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 429,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.746-542A>G",
"hgvs_p": null,
"transcript": "NM_001303106.2",
"protein_id": "NP_001290035.1",
"transcript_support_level": null,
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},
{
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.746-542A>G",
"hgvs_p": null,
"transcript": "NM_001351565.2",
"protein_id": "NP_001338494.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.44-9762A>G",
"hgvs_p": null,
"transcript": "ENST00000608781.1",
"protein_id": "ENSP00000477316.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "n.*1499-3179A>G",
"hgvs_p": null,
"transcript": "ENST00000409529.6",
"protein_id": "ENSP00000386418.2",
"transcript_support_level": 2,
"aa_start": null,
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},
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"strand": true,
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],
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"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "n.1866-3179A>G",
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"transcript": "NR_130121.2",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "CCDC138",
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"hgvs_c": "n.1635-9762A>G",
"hgvs_p": null,
"transcript": "NR_147236.2",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "n.1870-542A>G",
"hgvs_p": null,
"transcript": "NR_147237.2",
"protein_id": null,
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"aa_start": null,
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"aa_length": 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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "n.1969-542A>G",
"hgvs_p": null,
"transcript": "NR_147238.2",
"protein_id": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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{
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{
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"clinvar_disease": "",
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"clinvar_review_status": "",
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}
],
"message": null
}