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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: 7-2593110-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2593110&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "IQCE",
"hgnc_id": 29171,
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.Arg445*",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001287499.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.25,
"chr": "7",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.25,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 695,
"aa_ref": "R",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6857,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1333,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_152558.5",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.Arg445*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000402050.7",
"protein_coding": true,
"protein_id": "NP_689771.3",
"strand": true,
"transcript": "NM_152558.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 695,
"aa_ref": "R",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6857,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1333,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000402050.7",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.Arg445*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152558.5",
"protein_coding": true,
"protein_id": "ENSP00000385597.2",
"strand": true,
"transcript": "ENST00000402050.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 630,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6775,
"cdna_start": 1449,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1138,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000623361.3",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.1138C>T",
"hgvs_p": "p.Arg380*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485601.1",
"strand": true,
"transcript": "ENST00000623361.3",
"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": 2235,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000325997.13",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "n.*1110C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000314011.10",
"strand": true,
"transcript": "ENST00000325997.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2251,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000470731.5",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "n.1467C>T",
"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": "ENST00000470731.5",
"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": 2235,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000325997.13",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "n.*1110C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000314011.10",
"strand": true,
"transcript": "ENST00000325997.13",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 721,
"aa_ref": "R",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3016,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1333,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000949542.1",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.Arg445*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619601.1",
"strand": true,
"transcript": "ENST00000949542.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 702,
"aa_ref": "R",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 2109,
"cds_start": 1333,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001287499.2",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.Arg445*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274428.1",
"strand": true,
"transcript": "NM_001287499.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 702,
"aa_ref": "R",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 2109,
"cds_start": 1333,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000476665.5",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.Arg445*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480715.1",
"strand": true,
"transcript": "ENST00000476665.5",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 686,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2452,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1285,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001287500.2",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.1285C>T",
"hgvs_p": "p.Arg429*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274429.1",
"strand": true,
"transcript": "NM_001287500.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 686,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1285,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000611775.4",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.1285C>T",
"hgvs_p": "p.Arg429*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480668.1",
"strand": true,
"transcript": "ENST00000611775.4",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 679,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6809,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 2040,
"cds_start": 1285,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001410865.1",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.1285C>T",
"hgvs_p": "p.Arg429*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397794.1",
"strand": true,
"transcript": "NM_001410865.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 679,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 2040,
"cds_start": 1285,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000438376.6",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.1285C>T",
"hgvs_p": "p.Arg429*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396178.2",
"strand": true,
"transcript": "ENST00000438376.6",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 658,
"aa_ref": "R",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2952,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1333,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000910211.1",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.Arg445*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580270.1",
"strand": true,
"transcript": "ENST00000910211.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 637,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1138,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001287502.2",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.1138C>T",
"hgvs_p": "p.Arg380*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274431.1",
"strand": true,
"transcript": "NM_001287502.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 630,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6763,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1138,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001287501.2",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.1138C>T",
"hgvs_p": "p.Arg380*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274430.1",
"strand": true,
"transcript": "NM_001287501.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 630,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2179,
"cdna_start": 1424,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1138,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000325979.11",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.1138C>T",
"hgvs_p": "p.Arg380*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000313772.7",
"strand": true,
"transcript": "ENST00000325979.11",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 709,
"aa_ref": "R",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2591,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1354,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047420081.1",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.1354C>T",
"hgvs_p": "p.Arg452*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276037.1",
"strand": true,
"transcript": "XM_047420081.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 702,
"aa_ref": "R",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6948,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 2109,
"cds_start": 1354,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017011902.2",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.1354C>T",
"hgvs_p": "p.Arg452*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867391.1",
"strand": true,
"transcript": "XM_017011902.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 657,
"aa_ref": "R",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2365,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 1974,
"cds_start": 1198,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011515242.2",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Arg400*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513544.1",
"strand": true,
"transcript": "XM_011515242.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 641,
"aa_ref": "R",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2317,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1150,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047420083.1",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.1150C>T",
"hgvs_p": "p.Arg384*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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