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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: 6-169633020-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=169633020&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "WDR27",
"hgnc_id": 21248,
"hgvs_c": "c.2150T>C",
"hgvs_p": "p.Leu717Pro",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_182552.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000285733",
"hgnc_id": null,
"hgvs_c": "c.332-30699T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000648086.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8855,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.03,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9271045923233032,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "L",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3554,
"cdna_start": 2636,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_182552.5",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "c.2150T>C",
"hgvs_p": "p.Leu717Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000448612.6",
"protein_coding": true,
"protein_id": "NP_872358.4",
"strand": false,
"transcript": "NM_182552.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "L",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3554,
"cdna_start": 2636,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000448612.6",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "c.2150T>C",
"hgvs_p": "p.Leu717Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182552.5",
"protein_coding": true,
"protein_id": "ENSP00000416289.1",
"strand": false,
"transcript": "ENST00000448612.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 730,
"aa_ref": "L",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2465,
"cdna_start": 1812,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1769,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000423258.5",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "c.1769T>C",
"hgvs_p": "p.Leu590Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397869.1",
"strand": false,
"transcript": "ENST00000423258.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 232,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2395,
"cdna_start": null,
"cds_end": null,
"cds_length": 699,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648086.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285733",
"hgvs_c": "c.332-30699T>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497979.1",
"strand": false,
"transcript": "ENST00000648086.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3511,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000546525.5",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "n.1531T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000546525.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 827,
"aa_ref": "L",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3342,
"cdna_start": 2546,
"cds_end": null,
"cds_length": 2484,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000850900.1",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "c.2060T>C",
"hgvs_p": "p.Leu687Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520975.1",
"strand": false,
"transcript": "ENST00000850900.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 730,
"aa_ref": "L",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": 2255,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1769,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001202550.2",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "c.1769T>C",
"hgvs_p": "p.Leu590Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001189479.1",
"strand": false,
"transcript": "NM_001202550.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 666,
"aa_ref": "L",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 2063,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1577,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001350623.2",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "c.1577T>C",
"hgvs_p": "p.Leu526Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337552.1",
"strand": false,
"transcript": "NM_001350623.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 890,
"aa_ref": "L",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4800,
"cdna_start": 2818,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_011535682.4",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "c.2150T>C",
"hgvs_p": "p.Leu717Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533984.1",
"strand": false,
"transcript": "XM_011535682.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 873,
"aa_ref": "L",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4013,
"cdna_start": 2818,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_011535684.4",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "c.2150T>C",
"hgvs_p": "p.Leu717Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533986.1",
"strand": false,
"transcript": "XM_011535684.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 869,
"aa_ref": "L",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3429,
"cdna_start": 2818,
"cds_end": null,
"cds_length": 2610,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047418584.1",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "c.2150T>C",
"hgvs_p": "p.Leu717Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274540.1",
"strand": false,
"transcript": "XM_047418584.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 867,
"aa_ref": "L",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3613,
"cdna_start": 2818,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_011535685.4",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "c.2150T>C",
"hgvs_p": "p.Leu717Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533987.1",
"strand": false,
"transcript": "XM_011535685.4",
"transcript_support_level": null
},
{
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"aa_length": 857,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3614,
"cdna_start": 2818,
"cds_end": null,
"cds_length": 2574,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_017010660.3",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "c.2150T>C",
"hgvs_p": "p.Leu717Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866149.1",
"strand": false,
"transcript": "XM_017010660.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 855,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7067,
"cdna_start": 2818,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_011535687.4",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "c.2150T>C",
"hgvs_p": "p.Leu717Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533989.1",
"strand": false,
"transcript": "XM_011535687.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 855,
"aa_ref": "L",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7063,
"cdna_start": 2818,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_011535688.4",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "c.2150T>C",
"hgvs_p": "p.Leu717Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533990.1",
"strand": false,
"transcript": "XM_011535688.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 853,
"aa_ref": "L",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3682,
"cdna_start": 2818,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_011535691.4",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "c.2150T>C",
"hgvs_p": "p.Leu717Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533993.1",
"strand": false,
"transcript": "XM_011535691.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 847,
"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3294,
"cdna_start": 2818,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_011535692.4",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "c.2150T>C",
"hgvs_p": "p.Leu717Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533994.1",
"strand": false,
"transcript": "XM_011535692.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 790,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3643,
"cdna_start": 2818,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_011535693.4",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "c.2150T>C",
"hgvs_p": "p.Leu717Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533995.1",
"strand": false,
"transcript": "XM_011535693.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3380,
"cdna_start": 2818,
"cds_end": null,
"cds_length": 2280,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047418585.1",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "c.2150T>C",
"hgvs_p": "p.Leu717Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274541.1",
"strand": false,
"transcript": "XM_047418585.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 742,
"aa_ref": "L",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2994,
"cdna_start": 2818,
"cds_end": null,
"cds_length": 2229,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047418586.1",
"gene_hgnc_id": 21248,
"gene_symbol": "WDR27",
"hgvs_c": "c.2150T>C",
"hgvs_p": "p.Leu717Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274542.1",
"strand": false,
"transcript": "XM_047418586.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 666,
"aa_ref": "L",
"aa_start": 526,
"biotype": "protein_coding",
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