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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: 1-31577338-CTG-AGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=31577338&ref=CTG&alt=AGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TINAGL1",
"hgnc_id": 19168,
"hgvs_c": "c.190_192delCTGinsAGA",
"hgvs_p": "p.Leu64Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_022164.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "ENSG00000229167",
"hgnc_id": null,
"hgvs_c": "n.230+7_230+9delCAGinsTCT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000763264.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "LINC01226",
"hgnc_id": 49678,
"hgvs_c": "n.456-5811_456-5809delCTGinsAGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000639839.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105378626",
"hgnc_id": null,
"hgvs_c": "n.54+504_54+506delCAGinsTCT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NR_188670.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 467,
"aa_ref": "L",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2207,
"cdna_start": 286,
"cds_end": null,
"cds_length": 1404,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_022164.3",
"gene_hgnc_id": 19168,
"gene_symbol": "TINAGL1",
"hgvs_c": "c.190_192delCTGinsAGA",
"hgvs_p": "p.Leu64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000271064.12",
"protein_coding": true,
"protein_id": "NP_071447.1",
"strand": true,
"transcript": "NM_022164.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 467,
"aa_ref": "L",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2207,
"cdna_start": 286,
"cds_end": null,
"cds_length": 1404,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000271064.12",
"gene_hgnc_id": 19168,
"gene_symbol": "TINAGL1",
"hgvs_c": "c.190_192delCTGinsAGA",
"hgvs_p": "p.Leu64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022164.3",
"protein_coding": true,
"protein_id": "ENSP00000271064.7",
"strand": true,
"transcript": "ENST00000271064.12",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 597,
"aa_ref": "L",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2597,
"cdna_start": 286,
"cds_end": null,
"cds_length": 1794,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861777.1",
"gene_hgnc_id": 19168,
"gene_symbol": "TINAGL1",
"hgvs_c": "c.190_192delCTGinsAGA",
"hgvs_p": "p.Leu64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531836.1",
"strand": true,
"transcript": "ENST00000861777.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 537,
"aa_ref": "L",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 262,
"cds_end": null,
"cds_length": 1614,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861779.1",
"gene_hgnc_id": 19168,
"gene_symbol": "TINAGL1",
"hgvs_c": "c.190_192delCTGinsAGA",
"hgvs_p": "p.Leu64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531838.1",
"strand": true,
"transcript": "ENST00000861779.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 484,
"aa_ref": "L",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2263,
"cdna_start": 291,
"cds_end": null,
"cds_length": 1455,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964677.1",
"gene_hgnc_id": 19168,
"gene_symbol": "TINAGL1",
"hgvs_c": "c.190_192delCTGinsAGA",
"hgvs_p": "p.Leu64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634736.1",
"strand": true,
"transcript": "ENST00000964677.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 467,
"aa_ref": "L",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2207,
"cdna_start": 283,
"cds_end": null,
"cds_length": 1404,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861775.1",
"gene_hgnc_id": 19168,
"gene_symbol": "TINAGL1",
"hgvs_c": "c.190_192delCTGinsAGA",
"hgvs_p": "p.Leu64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531834.1",
"strand": true,
"transcript": "ENST00000861775.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 467,
"aa_ref": "L",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 321,
"cds_end": null,
"cds_length": 1404,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861776.1",
"gene_hgnc_id": 19168,
"gene_symbol": "TINAGL1",
"hgvs_c": "c.190_192delCTGinsAGA",
"hgvs_p": "p.Leu64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531835.1",
"strand": true,
"transcript": "ENST00000861776.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 467,
"aa_ref": "L",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": 824,
"cds_end": null,
"cds_length": 1404,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861778.1",
"gene_hgnc_id": 19168,
"gene_symbol": "TINAGL1",
"hgvs_c": "c.190_192delCTGinsAGA",
"hgvs_p": "p.Leu64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531837.1",
"strand": true,
"transcript": "ENST00000861778.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 436,
"aa_ref": "L",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2114,
"cdna_start": 286,
"cds_end": null,
"cds_length": 1311,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001204414.2",
"gene_hgnc_id": 19168,
"gene_symbol": "TINAGL1",
"hgvs_c": "c.190_192delCTGinsAGA",
"hgvs_p": "p.Leu64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191343.1",
"strand": true,
"transcript": "NM_001204414.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 436,
"aa_ref": "L",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 316,
"cds_end": null,
"cds_length": 1311,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000457433.6",
"gene_hgnc_id": 19168,
"gene_symbol": "TINAGL1",
"hgvs_c": "c.190_192delCTGinsAGA",
"hgvs_p": "p.Leu64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395137.2",
"strand": true,
"transcript": "ENST00000457433.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 440,
"aa_ref": "L",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 286,
"cds_end": null,
"cds_length": 1323,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005271106.4",
"gene_hgnc_id": 19168,
"gene_symbol": "TINAGL1",
"hgvs_c": "c.190_192delCTGinsAGA",
"hgvs_p": "p.Leu64Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005271163.1",
"strand": true,
"transcript": "XM_005271106.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 362,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": null,
"cds_end": null,
"cds_length": 1089,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005271107.2",
"gene_hgnc_id": 19168,
"gene_symbol": "TINAGL1",
"hgvs_c": "c.-6+743_-6+745delCTGinsAGA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005271164.1",
"strand": true,
"transcript": "XM_005271107.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 335,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": null,
"cds_end": null,
"cds_length": 1008,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427608.1",
"gene_hgnc_id": 19168,
"gene_symbol": "TINAGL1",
"hgvs_c": "c.-6+743_-6+745delCTGinsAGA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283564.1",
"strand": true,
"transcript": "XM_047427608.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 322,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": null,
"cds_end": null,
"cds_length": 969,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011541946.2",
"gene_hgnc_id": 19168,
"gene_symbol": "TINAGL1",
"hgvs_c": "c.-62+743_-62+745delCTGinsAGA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540248.2",
"strand": true,
"transcript": "XM_011541946.2",
"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": 680,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000466998.1",
"gene_hgnc_id": 19168,
"gene_symbol": "TINAGL1",
"hgvs_c": "n.256_258delCTGinsAGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000466998.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4759,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000481165.5",
"gene_hgnc_id": 19168,
"gene_symbol": "TINAGL1",
"hgvs_c": "n.305_307delCTGinsAGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000481165.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 820,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000461030.5",
"gene_hgnc_id": 19168,
"gene_symbol": "TINAGL1",
"hgvs_c": "n.54+743_54+745delCTGinsAGA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000461030.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 765,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000478398.5",
"gene_hgnc_id": 19168,
"gene_symbol": "TINAGL1",
"hgvs_c": "n.28+743_28+745delCTGinsAGA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000478398.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 554,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639839.1",
"gene_hgnc_id": 49678,
"gene_symbol": "LINC01226",
"hgvs_c": "n.456-5811_456-5809delCTGinsAGA",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000639839.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 551,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
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