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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: 6-104833122-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=104833122&ref=G&alt=A&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": "HACE1",
"hgnc_id": 21033,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Gln152*",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_020771.4",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000227535",
"hgnc_id": null,
"hgvs_c": "n.59-1798C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 7,
"score": 7,
"transcript": "ENST00000422930.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.66,
"chr": "6",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Spastic paraplegia-severe developmental delay-epilepsy syndrome",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6600000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 909,
"aa_ref": "Q",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4575,
"cdna_start": 731,
"cds_end": null,
"cds_length": 2730,
"cds_start": 454,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_020771.4",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Gln152*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262903.9",
"protein_coding": true,
"protein_id": "NP_065822.2",
"strand": false,
"transcript": "NM_020771.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 909,
"aa_ref": "Q",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4575,
"cdna_start": 731,
"cds_end": null,
"cds_length": 2730,
"cds_start": 454,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000262903.9",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Gln152*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020771.4",
"protein_coding": true,
"protein_id": "ENSP00000262903.4",
"strand": false,
"transcript": "ENST00000262903.9",
"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": 4729,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000416605.6",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "n.454C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000392425.2",
"strand": false,
"transcript": "ENST00000416605.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 920,
"aa_ref": "Q",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3911,
"cdna_start": 723,
"cds_end": null,
"cds_length": 2763,
"cds_start": 454,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000851410.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Gln152*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521469.1",
"strand": false,
"transcript": "ENST00000851410.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 907,
"aa_ref": "Q",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4352,
"cdna_start": 514,
"cds_end": null,
"cds_length": 2724,
"cds_start": 454,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000851409.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Gln152*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521468.1",
"strand": false,
"transcript": "ENST00000851409.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 884,
"aa_ref": "Q",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3653,
"cdna_start": 712,
"cds_end": null,
"cds_length": 2655,
"cds_start": 454,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000950221.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Gln152*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620280.1",
"strand": false,
"transcript": "ENST00000950221.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 879,
"aa_ref": "Q",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3582,
"cdna_start": 565,
"cds_end": null,
"cds_length": 2640,
"cds_start": 364,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000914227.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Gln122*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584286.1",
"strand": false,
"transcript": "ENST00000914227.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 877,
"aa_ref": "Q",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 627,
"cds_end": null,
"cds_length": 2634,
"cds_start": 364,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000950219.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Gln122*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620278.1",
"strand": false,
"transcript": "ENST00000950219.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 875,
"aa_ref": "Q",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4390,
"cdna_start": 546,
"cds_end": null,
"cds_length": 2628,
"cds_start": 352,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001321083.2",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Gln118*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308012.1",
"strand": false,
"transcript": "NM_001321083.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 871,
"aa_ref": "Q",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4427,
"cdna_start": 698,
"cds_end": null,
"cds_length": 2616,
"cds_start": 454,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000950220.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Gln152*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620279.1",
"strand": false,
"transcript": "ENST00000950220.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 694,
"aa_ref": "Q",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3102,
"cdna_start": 731,
"cds_end": null,
"cds_length": 2085,
"cds_start": 454,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000369125.6",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Gln152*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358121.2",
"strand": false,
"transcript": "ENST00000369125.6",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 350,
"aa_ref": "Q",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2011,
"cdna_start": 672,
"cds_end": null,
"cds_length": 1053,
"cds_start": 454,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000851411.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Gln152*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521470.1",
"strand": false,
"transcript": "ENST00000851411.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 137,
"aa_ref": "Q",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 622,
"cdna_start": 560,
"cds_end": null,
"cds_length": 414,
"cds_start": 352,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000524020.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Gln118*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427901.1",
"strand": false,
"transcript": "ENST00000524020.1",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 741,
"aa_ref": "C",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4307,
"cdna_start": 546,
"cds_end": null,
"cds_length": 2226,
"cds_start": 33,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001321084.2",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.33C>T",
"hgvs_p": "p.Cys11Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308013.1",
"strand": false,
"transcript": "NM_001321084.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 741,
"aa_ref": "C",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4416,
"cdna_start": 655,
"cds_end": null,
"cds_length": 2226,
"cds_start": 33,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001350557.2",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.33C>T",
"hgvs_p": "p.Cys11Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337486.1",
"strand": false,
"transcript": "NM_001350557.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 741,
"aa_ref": "C",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4492,
"cdna_start": 731,
"cds_end": null,
"cds_length": 2226,
"cds_start": 33,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001350558.2",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.33C>T",
"hgvs_p": "p.Cys11Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337487.1",
"strand": false,
"transcript": "NM_001350558.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 747,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4499,
"cdna_start": null,
"cds_end": null,
"cds_length": 2244,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001350556.2",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.-33C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337485.1",
"strand": false,
"transcript": "NM_001350556.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 876,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3588,
"cdna_start": null,
"cds_end": null,
"cds_length": 2631,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000914226.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.403-9698C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584285.1",
"strand": false,
"transcript": "ENST00000914226.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 865,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4443,
"cdna_start": null,
"cds_end": null,
"cds_length": 2598,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321080.2",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.402+10101C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308009.1",
"strand": false,
"transcript": "NM_001321080.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 835,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4282,
"cdna_start": null,
"cds_end": null,
"cds_length": 2508,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851408.1",
"gene_hgnc_id": 21033,
"gene_symbol": "HACE1",
"hgvs_c": "c.312+10101C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521467.1",
"strand": false,
"transcript": "ENST00000851408.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 831,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4501,
"cdna_start": null,
"cds_end": null,
"cds_length": 2496,
"cds_start": null,
"consequences": [
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