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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: 20-35983989-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35983989&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CNBD2",
"hgnc_id": 16145,
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Arg139Cys",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_001365709.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 30,
"alphamissense_prediction": null,
"alphamissense_score": 0.2534,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "20",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3905946910381317,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 576,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1956,
"cdna_start": 588,
"cds_end": null,
"cds_length": 1731,
"cds_start": 415,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001365709.1",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Arg139Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373973.7",
"protein_coding": true,
"protein_id": "NP_001352638.1",
"strand": true,
"transcript": "NM_001365709.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 576,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1956,
"cdna_start": 588,
"cds_end": null,
"cds_length": 1731,
"cds_start": 415,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000373973.7",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Arg139Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001365709.1",
"protein_coding": true,
"protein_id": "ENSP00000363084.3",
"strand": true,
"transcript": "ENST00000373973.7",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 423,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 555,
"cds_end": null,
"cds_length": 1272,
"cds_start": 415,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000538900.1",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Arg139Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442729.1",
"strand": true,
"transcript": "ENST00000538900.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1426,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000463258.6",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "n.408-638C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476014.1",
"strand": true,
"transcript": "ENST00000463258.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 572,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1944,
"cdna_start": 588,
"cds_end": null,
"cds_length": 1719,
"cds_start": 415,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_080834.4",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Arg139Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_543024.2",
"strand": true,
"transcript": "NM_080834.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 572,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1927,
"cdna_start": 571,
"cds_end": null,
"cds_length": 1719,
"cds_start": 415,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000349339.5",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Arg139Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340954.1",
"strand": true,
"transcript": "ENST00000349339.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 423,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1786,
"cdna_start": 588,
"cds_end": null,
"cds_length": 1272,
"cds_start": 415,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001207076.3",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Arg139Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001194005.1",
"strand": true,
"transcript": "NM_001207076.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 635,
"aa_ref": "R",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 786,
"cds_end": null,
"cds_length": 1908,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047439921.1",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Arg198Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295877.1",
"strand": true,
"transcript": "XM_047439921.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 631,
"aa_ref": "R",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2142,
"cdna_start": 786,
"cds_end": null,
"cds_length": 1896,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047439922.1",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Arg198Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295878.1",
"strand": true,
"transcript": "XM_047439922.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 617,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 732,
"cds_end": null,
"cds_length": 1854,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011528590.3",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526892.1",
"strand": true,
"transcript": "XM_011528590.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 568,
"aa_ref": "R",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1999,
"cdna_start": 631,
"cds_end": null,
"cds_length": 1707,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047439923.1",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295879.1",
"strand": true,
"transcript": "XM_047439923.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 553,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2143,
"cdna_start": 775,
"cds_end": null,
"cds_length": 1662,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017027683.3",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016883172.1",
"strand": true,
"transcript": "XM_017027683.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 536,
"aa_ref": "R",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1869,
"cdna_start": 786,
"cds_end": null,
"cds_length": 1611,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047439924.1",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Arg198Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295880.1",
"strand": true,
"transcript": "XM_047439924.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 529,
"aa_ref": "R",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": 427,
"cds_end": null,
"cds_length": 1590,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011528592.1",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.274C>T",
"hgvs_p": "p.Arg92Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526894.1",
"strand": true,
"transcript": "XM_011528592.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 490,
"aa_ref": "R",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1681,
"cdna_start": 786,
"cds_end": null,
"cds_length": 1473,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047439925.1",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Arg198Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295881.1",
"strand": true,
"transcript": "XM_047439925.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 485,
"aa_ref": "R",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1729,
"cdna_start": 786,
"cds_end": null,
"cds_length": 1458,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047439926.1",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Arg198Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295882.1",
"strand": true,
"transcript": "XM_047439926.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 482,
"aa_ref": "R",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 786,
"cds_end": null,
"cds_length": 1449,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047439927.1",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Arg198Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295883.1",
"strand": true,
"transcript": "XM_047439927.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 324,
"aa_ref": "R",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1291,
"cdna_start": 786,
"cds_end": null,
"cds_length": 975,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047439928.1",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Arg198Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295884.1",
"strand": true,
"transcript": "XM_047439928.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 320,
"aa_ref": "R",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2024,
"cdna_start": 786,
"cds_end": null,
"cds_length": 963,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047439929.1",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Arg198Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295885.1",
"strand": true,
"transcript": "XM_047439929.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 528,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": null,
"cds_end": null,
"cds_length": 1587,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011528593.3",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.421-638C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526895.1",
"strand": true,
"transcript": "XM_011528593.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 387,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1295,
"cdna_start": null,
"cds_end": null,
"cds_length": 1164,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011528598.1",
"gene_hgnc_id": 16145,
"gene_symbol": "CNBD2",
"hgvs_c": "c.-3-638C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526900.1",
"strand": true,
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{
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],
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]
}