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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: 9-132283403-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132283403&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SETX",
"hgnc_id": 445,
"hgvs_c": "c.6407G>A",
"hgvs_p": "p.Arg2136His",
"inheritance_mode": "AR,AD",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_001351528.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PM5,PP3_Moderate,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1793,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "9",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Amyotrophic lateral sclerosis type 4,Distal spinal muscular atrophy,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8419777154922485,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2677,
"aa_ref": "R",
"aa_start": 2136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11101,
"cdna_start": 6591,
"cds_end": null,
"cds_length": 8034,
"cds_start": 6407,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_015046.7",
"gene_hgnc_id": 445,
"gene_symbol": "SETX",
"hgvs_c": "c.6407G>A",
"hgvs_p": "p.Arg2136His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000224140.6",
"protein_coding": true,
"protein_id": "NP_055861.3",
"strand": false,
"transcript": "NM_015046.7",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2677,
"aa_ref": "R",
"aa_start": 2136,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11101,
"cdna_start": 6591,
"cds_end": null,
"cds_length": 8034,
"cds_start": 6407,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000224140.6",
"gene_hgnc_id": 445,
"gene_symbol": "SETX",
"hgvs_c": "c.6407G>A",
"hgvs_p": "p.Arg2136His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015046.7",
"protein_coding": true,
"protein_id": "ENSP00000224140.5",
"strand": false,
"transcript": "ENST00000224140.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2719,
"aa_ref": "R",
"aa_start": 2136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11143,
"cdna_start": 6591,
"cds_end": null,
"cds_length": 8160,
"cds_start": 6407,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000923216.1",
"gene_hgnc_id": 445,
"gene_symbol": "SETX",
"hgvs_c": "c.6407G>A",
"hgvs_p": "p.Arg2136His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593275.1",
"strand": false,
"transcript": "ENST00000923216.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2706,
"aa_ref": "R",
"aa_start": 2136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11188,
"cdna_start": 6591,
"cds_end": null,
"cds_length": 8121,
"cds_start": 6407,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001351528.2",
"gene_hgnc_id": 445,
"gene_symbol": "SETX",
"hgvs_c": "c.6407G>A",
"hgvs_p": "p.Arg2136His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338457.1",
"strand": false,
"transcript": "NM_001351528.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2690,
"aa_ref": "R",
"aa_start": 2136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11056,
"cdna_start": 6591,
"cds_end": null,
"cds_length": 8073,
"cds_start": 6407,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000923217.1",
"gene_hgnc_id": 445,
"gene_symbol": "SETX",
"hgvs_c": "c.6407G>A",
"hgvs_p": "p.Arg2136His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593276.1",
"strand": false,
"transcript": "ENST00000923217.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 2677,
"aa_ref": "R",
"aa_start": 2136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11237,
"cdna_start": 6727,
"cds_end": null,
"cds_length": 8034,
"cds_start": 6407,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001351527.2",
"gene_hgnc_id": 445,
"gene_symbol": "SETX",
"hgvs_c": "c.6407G>A",
"hgvs_p": "p.Arg2136His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338456.1",
"strand": false,
"transcript": "NM_001351527.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2677,
"aa_ref": "R",
"aa_start": 2136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8889,
"cdna_start": 6919,
"cds_end": null,
"cds_length": 8034,
"cds_start": 6407,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000905306.1",
"gene_hgnc_id": 445,
"gene_symbol": "SETX",
"hgvs_c": "c.6407G>A",
"hgvs_p": "p.Arg2136His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575365.1",
"strand": false,
"transcript": "ENST00000905306.1",
"transcript_support_level": null
},
{
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"aa_length": 2677,
"aa_ref": "R",
"aa_start": 2136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11305,
"cdna_start": 6879,
"cds_end": null,
"cds_length": 8034,
"cds_start": 6407,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000923215.1",
"gene_hgnc_id": 445,
"gene_symbol": "SETX",
"hgvs_c": "c.6407G>A",
"hgvs_p": "p.Arg2136His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593274.1",
"strand": false,
"transcript": "ENST00000923215.1",
"transcript_support_level": null
},
{
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"aa_length": 2668,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 8539,
"cdna_start": 6527,
"cds_end": null,
"cds_length": 8007,
"cds_start": 6341,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000923219.1",
"gene_hgnc_id": 445,
"gene_symbol": "SETX",
"hgvs_c": "c.6341G>A",
"hgvs_p": "p.Arg2114His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593278.1",
"strand": false,
"transcript": "ENST00000923219.1",
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},
{
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"aa_length": 2655,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9667,
"cdna_start": 6502,
"cds_end": null,
"cds_length": 7968,
"cds_start": 6341,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000947394.1",
"gene_hgnc_id": 445,
"gene_symbol": "SETX",
"hgvs_c": "c.6341G>A",
"hgvs_p": "p.Arg2114His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000617453.1",
"strand": false,
"transcript": "ENST00000947394.1",
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},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7026,
"cdna_start": 2603,
"cds_end": null,
"cds_length": 4053,
"cds_start": 2426,
"consequences": [
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],
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"feature": "ENST00000923218.1",
"gene_hgnc_id": 445,
"gene_symbol": "SETX",
"hgvs_c": "c.2426G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000593277.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000905305.1",
"gene_hgnc_id": 445,
"gene_symbol": "SETX",
"hgvs_c": "c.2231G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000575364.1",
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"transcript": "ENST00000905305.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000436441.5",
"gene_hgnc_id": 445,
"gene_symbol": "SETX",
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Arg378His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409143.1",
"strand": false,
"transcript": "ENST00000436441.5",
"transcript_support_level": 5
},
{
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"consequences": [
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],
"exon_count": 28,
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"feature": "XM_005272172.4",
"gene_hgnc_id": 445,
"gene_symbol": "SETX",
"hgvs_c": "c.6407G>A",
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"protein_coding": true,
"protein_id": "XP_005272229.1",
"strand": false,
"transcript": "XM_005272172.4",
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},
{
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"consequences": [
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],
"exon_count": 27,
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"feature": "XM_005272173.4",
"gene_hgnc_id": 445,
"gene_symbol": "SETX",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_005272230.1",
"strand": false,
"transcript": "XM_005272173.4",
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},
{
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"cdna_start": 6736,
"cds_end": null,
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"consequences": [
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],
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"feature": "XM_011518404.4",
"gene_hgnc_id": 445,
"gene_symbol": "SETX",
"hgvs_c": "c.6407G>A",
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"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011516706.1",
"strand": false,
"transcript": "XM_011518404.4",
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},
{
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],
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},
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],
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"feature": "XM_047423023.1",
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},
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"consequences": [
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],
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"feature": "XM_011518406.3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011516708.1",
"strand": false,
"transcript": "XM_011518406.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
"missense_variant"
],
"exon_count": 24,
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"exon_rank_end": null,
"feature": "XM_011518407.2",
"gene_hgnc_id": 445,
"gene_symbol": "SETX",
"hgvs_c": "c.6407G>A",
"hgvs_p": "p.Arg2136His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516709.1",
"strand": false,
"transcript": "XM_011518407.2",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 6591,
"cds_end": null,
"cds_length": 6576,
"cds_start": 6407,
"consequences": [
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],
"exon_count": 20,
"exon_rank": 19,
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}