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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: 17-81208978-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81208978&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81208978,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000450824.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "NM_014984.4",
"protein_id": "NP_055799.2",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1080,
"cds_start": 222,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": "ENST00000450824.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "ENST00000450824.7",
"protein_id": "ENSP00000393583.2",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 1080,
"cds_start": 222,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": "NM_014984.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "ENST00000269392.8",
"protein_id": "ENSP00000269392.4",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 1083,
"cds_start": 222,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 3673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "ENST00000575907.5",
"protein_id": "ENSP00000459733.1",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 1047,
"cds_start": 222,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 3444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "NM_001319228.2",
"protein_id": "NP_001306157.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1083,
"cds_start": 222,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "NM_001319229.2",
"protein_id": "NP_001306158.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1047,
"cds_start": 222,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "NM_001009811.4",
"protein_id": "NP_001009811.2",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1044,
"cds_start": 222,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "ENST00000374782.7",
"protein_id": "ENSP00000363914.3",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 1044,
"cds_start": 222,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "XM_011524555.3",
"protein_id": "XP_011522857.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1088,
"cds_start": 222,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "XM_011524548.3",
"protein_id": "XP_011522850.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1085,
"cds_start": 222,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "XM_047435656.1",
"protein_id": "XP_047291612.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1083,
"cds_start": 222,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "XM_011524550.3",
"protein_id": "XP_011522852.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1082,
"cds_start": 222,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "XM_047435657.1",
"protein_id": "XP_047291613.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1080,
"cds_start": 222,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "XM_047435658.1",
"protein_id": "XP_047291614.1",
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"aa_start": 74,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "XM_011524551.3",
"protein_id": "XP_011522853.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1059,
"cds_start": 222,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "XM_047435659.1",
"protein_id": "XP_047291615.1",
"transcript_support_level": null,
"aa_start": 74,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "XM_047435660.1",
"protein_id": "XP_047291616.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1054,
"cds_start": 222,
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"cdna_start": 436,
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"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "XM_011524552.3",
"protein_id": "XP_011522854.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1052,
"cds_start": 222,
"cds_end": null,
"cds_length": 3159,
"cdna_start": 436,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "XM_011524553.3",
"protein_id": "XP_011522855.1",
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},
{
"aa_ref": "R",
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"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "XM_047435661.1",
"protein_id": "XP_047291617.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
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"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "XM_047435662.1",
"protein_id": "XP_047291618.1",
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "XM_047435663.1",
"protein_id": "XP_047291619.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1046,
"cds_start": 222,
"cds_end": null,
"cds_length": 3141,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 3528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>G",
"hgvs_p": "p.Arg74Arg",
"transcript": "XM_047435664.1",
"protein_id": "XP_047291620.1",
"transcript_support_level": null,
"aa_start": 74,
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{
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],
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"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP7",
"BA1"
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"verdict": "Benign",
"transcript": "ENST00000450824.7",
"gene_symbol": "CEP131",
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"effects": [
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}