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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: 10-73277101-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73277101&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 73277101,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000355577.9",
"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": 22,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2730+139T>C",
"hgvs_p": null,
"transcript": "NM_001367801.1",
"protein_id": "NP_001354730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1121,
"cds_start": -4,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": "ENST00000355577.9",
"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": 22,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2730+139T>C",
"hgvs_p": null,
"transcript": "ENST00000355577.9",
"protein_id": "ENSP00000347781.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1121,
"cds_start": -4,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": "NM_001367801.1",
"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": 27,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2520+139T>C",
"hgvs_p": null,
"transcript": "NM_001350933.2",
"protein_id": "NP_001337862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1051,
"cds_start": -4,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3440,
"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": 27,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2520+139T>C",
"hgvs_p": null,
"transcript": "ENST00000310715.8",
"protein_id": "ENSP00000310829.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1051,
"cds_start": -4,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3435,
"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": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2154+139T>C",
"hgvs_p": null,
"transcript": "NM_001350934.2",
"protein_id": "NP_001337863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": -4,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3468,
"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": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2154+139T>C",
"hgvs_p": null,
"transcript": "ENST00000686590.1",
"protein_id": "ENSP00000510588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": -4,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3476,
"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": 7,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.951+139T>C",
"hgvs_p": null,
"transcript": "ENST00000433268.5",
"protein_id": "ENSP00000409527.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": -4,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1710,
"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": 7,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.648-2551T>C",
"hgvs_p": null,
"transcript": "ENST00000340329.7",
"protein_id": "ENSP00000343650.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": -4,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1403,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "n.157+1078T>C",
"hgvs_p": null,
"transcript": "ENST00000394865.3",
"protein_id": "ENSP00000378334.3",
"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": 999,
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "n.472+139T>C",
"hgvs_p": null,
"transcript": "ENST00000462684.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1231,
"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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "n.*5590-1503T>C",
"hgvs_p": null,
"transcript": "ENST00000493787.6",
"protein_id": "ENSP00000510297.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6686,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 4,
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"gene_symbol": "CFAP70",
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"hgvs_c": "n.472+139T>C",
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"transcript": "ENST00000495161.5",
"protein_id": null,
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"aa_start": null,
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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": 29,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2796+139T>C",
"hgvs_p": null,
"transcript": "XM_017015620.2",
"protein_id": "XP_016871109.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2796+139T>C",
"hgvs_p": null,
"transcript": "XM_047424551.1",
"protein_id": "XP_047280507.1",
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},
{
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"strand": false,
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],
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"intron_rank": 23,
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"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2793+139T>C",
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"transcript": "XM_017015621.2",
"protein_id": "XP_016871110.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 23,
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"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2793+139T>C",
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"transcript": "XM_017015622.2",
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},
{
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],
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"gene_symbol": "CFAP70",
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"hgvs_c": "c.2730+139T>C",
"hgvs_p": null,
"transcript": "XM_006717604.3",
"protein_id": "XP_006717667.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2730+139T>C",
"hgvs_p": null,
"transcript": "XM_006717605.3",
"protein_id": "XP_006717668.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 22,
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"gene_symbol": "CFAP70",
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"hgvs_c": "c.2730+139T>C",
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"transcript": "XM_047424552.1",
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},
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],
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"gene_symbol": "CFAP70",
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"hgvs_c": "c.2718+139T>C",
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},
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],
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"gene_symbol": "CFAP70",
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"hgvs_c": "c.2715+139T>C",
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"transcript": "XM_017015624.2",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2796+139T>C",
"hgvs_p": null,
"transcript": "XM_017015625.2",
"protein_id": "XP_016871114.1",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2796+139T>C",
"hgvs_p": null,
"transcript": "XM_017015626.2",
"protein_id": "XP_016871115.1",
"transcript_support_level": null,
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"cdna_start": null,
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}