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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: 1-1387536-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1387536&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1387536,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_030937.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Arg420Cys",
"transcript": "NM_030937.6",
"protein_id": "NP_112199.2",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 520,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000400809.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030937.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Arg420Cys",
"transcript": "ENST00000400809.8",
"protein_id": "ENSP00000383611.3",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 520,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030937.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400809.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "n.2259C>T",
"hgvs_p": null,
"transcript": "ENST00000418865.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000418865.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "n.900C>T",
"hgvs_p": null,
"transcript": "ENST00000463260.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463260.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.1414C>T",
"hgvs_p": "p.Arg472Cys",
"transcript": "ENST00000941190.1",
"protein_id": "ENSP00000611249.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 572,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941190.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Arg453Cys",
"transcript": "ENST00000858596.1",
"protein_id": "ENSP00000528655.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 553,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858596.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.1330C>T",
"hgvs_p": "p.Arg444Cys",
"transcript": "ENST00000858599.1",
"protein_id": "ENSP00000528658.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 544,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858599.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Arg439Cys",
"transcript": "ENST00000858595.1",
"protein_id": "ENSP00000528654.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 539,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858595.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Arg415Cys",
"transcript": "ENST00000934646.1",
"protein_id": "ENSP00000604705.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 515,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934646.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.1240C>T",
"hgvs_p": "p.Arg414Cys",
"transcript": "ENST00000858597.1",
"protein_id": "ENSP00000528656.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 514,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858597.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.1237C>T",
"hgvs_p": "p.Arg413Cys",
"transcript": "ENST00000934647.1",
"protein_id": "ENSP00000604706.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 513,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934647.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.1225C>T",
"hgvs_p": "p.Arg409Cys",
"transcript": "ENST00000858598.1",
"protein_id": "ENSP00000528657.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 509,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858598.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Cys",
"transcript": "ENST00000934645.1",
"protein_id": "ENSP00000604704.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 458,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934645.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "NM_001350499.2",
"protein_id": "NP_001337428.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 389,
"cds_start": 865,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350499.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "NM_001350500.2",
"protein_id": "NP_001337429.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 389,
"cds_start": 865,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350500.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Arg198Cys",
"transcript": "NM_001320153.3",
"protein_id": "NP_001307082.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 298,
"cds_start": 592,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320153.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Arg198Cys",
"transcript": "NM_001320155.3",
"protein_id": "NP_001307084.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 298,
"cds_start": 592,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320155.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Arg198Cys",
"transcript": "NM_001350497.2",
"protein_id": "NP_001337426.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 298,
"cds_start": 592,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350497.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Arg198Cys",
"transcript": "NM_001350498.2",
"protein_id": "NP_001337427.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 298,
"cds_start": 592,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350498.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Arg453Cys",
"transcript": "XM_011542216.4",
"protein_id": "XP_011540518.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 553,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542216.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298Cys",
"transcript": "XM_047431297.1",
"protein_id": "XP_047287253.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 398,
"cds_start": 892,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431297.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNL2",
"gene_hgnc_id": 20570,
"hgvs_c": "n.967C>T",
"hgvs_p": null,
"transcript": "ENST00000480479.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480479.5"
},
{
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{
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"computational_score_selected": 0.19288870692253113,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.198,
"revel_prediction": "Benign",
"alphamissense_score": 0.1419,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.764,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_030937.6",
"gene_symbol": "CCNL2",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Arg420Cys"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}