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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: 9-2110275-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2110275&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SMARCA2",
"hgnc_id": 11098,
"hgvs_c": "c.3314G>A",
"hgvs_p": "p.Arg1105His",
"inheritance_mode": "AD",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_003070.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_score": 16,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9965,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.48,
"chr": "9",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Blepharophimosis-impaired intellectual development syndrome,Inborn genetic diseases,Nicolaides-Baraitser syndrome",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9846394062042236,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "R",
"aa_start": 1105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5748,
"cdna_start": 3408,
"cds_end": null,
"cds_length": 4773,
"cds_start": 3314,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_003070.5",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.3314G>A",
"hgvs_p": "p.Arg1105His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000349721.8",
"protein_coding": true,
"protein_id": "NP_003061.3",
"strand": true,
"transcript": "NM_003070.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "R",
"aa_start": 1105,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5748,
"cdna_start": 3408,
"cds_end": null,
"cds_length": 4773,
"cds_start": 3314,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000349721.8",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.3314G>A",
"hgvs_p": "p.Arg1105His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003070.5",
"protein_coding": true,
"protein_id": "ENSP00000265773.5",
"strand": true,
"transcript": "ENST00000349721.8",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "R",
"aa_start": 1105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5867,
"cdna_start": 3523,
"cds_end": null,
"cds_length": 4773,
"cds_start": 3314,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000382203.5",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.3314G>A",
"hgvs_p": "p.Arg1105His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371638.1",
"strand": true,
"transcript": "ENST00000382203.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1514,
"aa_ref": "R",
"aa_start": 1047,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5602,
"cdna_start": 3362,
"cds_end": null,
"cds_length": 4545,
"cds_start": 3140,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000450198.6",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.3140G>A",
"hgvs_p": "p.Arg1047His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392081.2",
"strand": true,
"transcript": "ENST00000450198.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "R",
"aa_start": 1105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5863,
"cdna_start": 3523,
"cds_end": null,
"cds_length": 4773,
"cds_start": 3314,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001289396.2",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.3314G>A",
"hgvs_p": "p.Arg1105His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276325.1",
"strand": true,
"transcript": "NM_001289396.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "R",
"aa_start": 1105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6241,
"cdna_start": 3902,
"cds_end": null,
"cds_length": 4773,
"cds_start": 3314,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000866697.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.3314G>A",
"hgvs_p": "p.Arg1105His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536756.1",
"strand": true,
"transcript": "ENST00000866697.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "R",
"aa_start": 1105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5868,
"cdna_start": 3532,
"cds_end": null,
"cds_length": 4773,
"cds_start": 3314,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000915468.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.3314G>A",
"hgvs_p": "p.Arg1105His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585527.1",
"strand": true,
"transcript": "ENST00000915468.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "R",
"aa_start": 1105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5771,
"cdna_start": 3479,
"cds_end": null,
"cds_length": 4773,
"cds_start": 3314,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000953439.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.3314G>A",
"hgvs_p": "p.Arg1105His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623498.1",
"strand": true,
"transcript": "ENST00000953439.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1572,
"aa_ref": "R",
"aa_start": 1105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5694,
"cdna_start": 3408,
"cds_end": null,
"cds_length": 4719,
"cds_start": 3314,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_139045.4",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.3314G>A",
"hgvs_p": "p.Arg1105His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_620614.2",
"strand": true,
"transcript": "NM_139045.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1572,
"aa_ref": "R",
"aa_start": 1105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5855,
"cdna_start": 3569,
"cds_end": null,
"cds_length": 4719,
"cds_start": 3314,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000357248.8",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.3314G>A",
"hgvs_p": "p.Arg1105His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349788.2",
"strand": true,
"transcript": "ENST00000357248.8",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1572,
"aa_ref": "R",
"aa_start": 1105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5679,
"cdna_start": 3436,
"cds_end": null,
"cds_length": 4719,
"cds_start": 3314,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000382194.6",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.3314G>A",
"hgvs_p": "p.Arg1105His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371629.1",
"strand": true,
"transcript": "ENST00000382194.6",
"transcript_support_level": 5
},
{
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"aa_length": 1572,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5820,
"cdna_start": 3533,
"cds_end": null,
"cds_length": 4719,
"cds_start": 3314,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000866695.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.3314G>A",
"hgvs_p": "p.Arg1105His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536754.1",
"strand": true,
"transcript": "ENST00000866695.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5640,
"cdna_start": 3402,
"cds_end": null,
"cds_length": 4719,
"cds_start": 3314,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000866696.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.3314G>A",
"hgvs_p": "p.Arg1105His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536755.1",
"strand": true,
"transcript": "ENST00000866696.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5712,
"cdna_start": 3474,
"cds_end": null,
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"cds_start": 3314,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000866698.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.3314G>A",
"hgvs_p": "p.Arg1105His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536757.1",
"strand": true,
"transcript": "ENST00000866698.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6084,
"cdna_start": 3846,
"cds_end": null,
"cds_length": 4719,
"cds_start": 3314,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000953438.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.3314G>A",
"hgvs_p": "p.Arg1105His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623497.1",
"strand": true,
"transcript": "ENST00000953438.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5520,
"cdna_start": 3234,
"cds_end": null,
"cds_length": 4545,
"cds_start": 3140,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001289397.2",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.3140G>A",
"hgvs_p": "p.Arg1047His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276326.1",
"strand": true,
"transcript": "NM_001289397.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1452,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_length": 5332,
"cdna_start": 3046,
"cds_end": null,
"cds_length": 4359,
"cds_start": 2954,
"consequences": [
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],
"exon_count": 31,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000704350.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.2954G>A",
"hgvs_p": "p.Arg985His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000515861.1",
"strand": true,
"transcript": "ENST00000704350.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_start": 3670,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000637134.2",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.3314G>A",
"hgvs_p": "p.Arg1105His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489667.2",
"strand": true,
"transcript": "ENST00000637134.2",
"transcript_support_level": 5
},
{
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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": 1678,
"cds_end": null,
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"cds_start": 1676,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000704355.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.1676G>A",
"hgvs_p": "p.Arg559His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515866.1",
"strand": true,
"transcript": "ENST00000704355.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 654,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": null,
"cds_end": null,
"cds_length": 1965,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000704353.1",
"gene_hgnc_id": 11098,
"gene_symbol": "SMARCA2",
"hgvs_c": "c.1174-51411G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515864.1",
"strand": true,
"transcript": "ENST00000704353.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 636,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2878,
"cdna_start": null,
"cds_end": null,
"cds_length": 1911,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
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