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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: 1-3839606-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=3839606&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 3839606,
"ref": "A",
"alt": "G",
"effect": "splice_donor_variant,intron_variant",
"transcript": "ENST00000378230.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.735+2T>C",
"hgvs_p": null,
"transcript": "NM_014704.4",
"protein_id": "NP_055519.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 925,
"cds_start": -4,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6431,
"mane_select": "ENST00000378230.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.735+2T>C",
"hgvs_p": null,
"transcript": "ENST00000378230.8",
"protein_id": "ENSP00000367476.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 925,
"cds_start": -4,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6431,
"mane_select": "NM_014704.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.735+2T>C",
"hgvs_p": null,
"transcript": "ENST00000494653.5",
"protein_id": "ENSP00000501736.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 554,
"cds_start": -4,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.735+2T>C",
"hgvs_p": null,
"transcript": "ENST00000675666.1",
"protein_id": "ENSP00000502548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 964,
"cds_start": -4,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.753+2T>C",
"hgvs_p": null,
"transcript": "ENST00000676052.1",
"protein_id": "ENSP00000502793.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 931,
"cds_start": -4,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.735+2T>C",
"hgvs_p": null,
"transcript": "ENST00000674558.1",
"protein_id": "ENSP00000501829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 925,
"cds_start": -4,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.735+2T>C",
"hgvs_p": null,
"transcript": "ENST00000674623.1",
"protein_id": "ENSP00000501733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 925,
"cds_start": -4,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.735+2T>C",
"hgvs_p": null,
"transcript": "ENST00000428079.6",
"protein_id": "ENSP00000394989.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": -4,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.561+2T>C",
"hgvs_p": null,
"transcript": "ENST00000674544.1",
"protein_id": "ENSP00000502641.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": -4,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.735+2T>C",
"hgvs_p": null,
"transcript": "ENST00000675375.1",
"protein_id": "ENSP00000502180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": -4,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.735+2T>C",
"hgvs_p": null,
"transcript": "ENST00000461667.2",
"protein_id": "ENSP00000463605.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 866,
"cds_start": -4,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.735+2T>C",
"hgvs_p": null,
"transcript": "ENST00000675677.1",
"protein_id": "ENSP00000501944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": -4,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.1072+2T>C",
"hgvs_p": null,
"transcript": "ENST00000674879.1",
"protein_id": null,
"transcript_support_level": null,
"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": 7030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.735+2T>C",
"hgvs_p": null,
"transcript": "ENST00000674985.1",
"protein_id": "ENSP00000502482.1",
"transcript_support_level": null,
"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,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.*651+2T>C",
"hgvs_p": null,
"transcript": "ENST00000675108.1",
"protein_id": "ENSP00000502131.1",
"transcript_support_level": null,
"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": 6700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.735+2T>C",
"hgvs_p": null,
"transcript": "ENST00000675200.1",
"protein_id": "ENSP00000502512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.539+2T>C",
"hgvs_p": null,
"transcript": "ENST00000675334.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.1072+2T>C",
"hgvs_p": null,
"transcript": "ENST00000675520.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.*238+2T>C",
"hgvs_p": null,
"transcript": "ENST00000675750.1",
"protein_id": "ENSP00000502342.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.963+2T>C",
"hgvs_p": null,
"transcript": "ENST00000675966.1",
"protein_id": null,
"transcript_support_level": null,
"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
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "n.735+2T>C",
"hgvs_p": null,
"transcript": "ENST00000676009.1",
"protein_id": "ENSP00000502246.1",
"transcript_support_level": null,
"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": 6394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.861+2T>C",
"hgvs_p": null,
"transcript": "XM_024451101.2",
"protein_id": "XP_024306869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 967,
"cds_start": -4,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
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],
"gene_symbol": "CEP104",
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"hom_count_reference_population": 0,
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"computational_prediction_selected": "Uncertain_significance",
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"splice_prediction_selected": "Benign",
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"alphamissense_score": null,
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"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Pathogenic",
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"dbscsnv_ada_prediction": "Pathogenic",
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"acmg_by_gene": [
{
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"PP5_Moderate"
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"verdict": "Pathogenic",
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],
"clinvar_disease": "Joubert syndrome 25,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Joubert syndrome 25|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}