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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: 10-101037017-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101037017&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 101037017,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000393459.6",
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "c.594-59C>A",
"hgvs_p": null,
"transcript": "NM_030971.6",
"protein_id": "NP_112233.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": -4,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3095,
"mane_select": "ENST00000393459.6",
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "c.594-59C>A",
"hgvs_p": null,
"transcript": "ENST00000393459.6",
"protein_id": "ENSP00000377103.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": -4,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3095,
"mane_select": "NM_030971.6",
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "c.618-59C>A",
"hgvs_p": null,
"transcript": "NM_001388027.1",
"protein_id": "NP_001374956.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": -4,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3322,
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "c.618-59C>A",
"hgvs_p": null,
"transcript": "NM_001388028.1",
"protein_id": "NP_001374957.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": -4,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3107,
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "c.606-59C>A",
"hgvs_p": null,
"transcript": "NM_001388029.1",
"protein_id": "NP_001374958.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3275,
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "c.606-59C>A",
"hgvs_p": null,
"transcript": "NM_001388030.1",
"protein_id": "NP_001374959.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3310,
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "c.606-59C>A",
"hgvs_p": null,
"transcript": "NM_001388031.1",
"protein_id": "NP_001374960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3503,
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "c.606-59C>A",
"hgvs_p": null,
"transcript": "ENST00000698791.1",
"protein_id": "ENSP00000513933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1224,
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "c.555-59C>A",
"hgvs_p": null,
"transcript": "NM_001388032.1",
"protein_id": "NP_001374961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": -4,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3044,
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "c.495-59C>A",
"hgvs_p": null,
"transcript": "ENST00000698792.1",
"protein_id": "ENSP00000513934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1876,
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "c.486-59C>A",
"hgvs_p": null,
"transcript": "NM_001388033.1",
"protein_id": "NP_001374962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": -4,
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"cds_length": 858,
"cdna_start": null,
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"cdna_length": 2975,
"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,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "c.321-59C>A",
"hgvs_p": null,
"transcript": "NM_001388034.1",
"protein_id": "NP_001374963.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cds_length": 693,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "c.321-59C>A",
"hgvs_p": null,
"transcript": "NM_001388035.1",
"protein_id": "NP_001374964.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 230,
"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": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "n.203-59C>A",
"hgvs_p": null,
"transcript": "ENST00000465383.5",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "n.82-59C>A",
"hgvs_p": null,
"transcript": "ENST00000487721.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "n.*116-59C>A",
"hgvs_p": null,
"transcript": "ENST00000489434.3",
"protein_id": "ENSP00000474564.1",
"transcript_support_level": 3,
"aa_start": null,
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},
{
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"strand": true,
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],
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"intron_rank": 7,
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"gene_symbol": "SFXN3",
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"hgvs_c": "n.1123-59C>A",
"hgvs_p": null,
"transcript": "NR_157572.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "n.1067-59C>A",
"hgvs_p": null,
"transcript": "NR_170874.1",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "n.1076-59C>A",
"hgvs_p": null,
"transcript": "NR_170875.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "SFXN3",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "SFXN3",
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"hgvs_c": "n.1306-59C>A",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "n.1182-59C>A",
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"transcript": "NR_170878.1",
"protein_id": 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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SFXN3",
"gene_hgnc_id": 16087,
"hgvs_c": "n.1020-59C>A",
"hgvs_p": null,
"transcript": "NR_170879.1",
"protein_id": 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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"protein_coding": false,
"strand": true,
"consequences": [
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],
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},
{
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],
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}
],
"gene_symbol": "SFXN3",
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"gnomad_exomes_af": 6.90766e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.998,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000393459.6",
"gene_symbol": "SFXN3",
"hgnc_id": 16087,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}