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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: 6-157206545-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=157206545&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ARID1B",
"hgnc_id": 18040,
"hgvs_c": "c.5902C>T",
"hgvs_p": "p.Arg1968*",
"inheritance_mode": "AD",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_001438482.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.57,
"chr": "6",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "ARID1B-related disorder,Coffin-Siris syndrome 1,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5699999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2372,
"aa_ref": "R",
"aa_start": 1925,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10310,
"cdna_start": 6076,
"cds_end": null,
"cds_length": 7119,
"cds_start": 5773,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001374828.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5773C>T",
"hgvs_p": "p.Arg1925*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000636930.2",
"protein_coding": true,
"protein_id": "NP_001361757.1",
"strand": true,
"transcript": "NM_001374828.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2372,
"aa_ref": "R",
"aa_start": 1925,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10310,
"cdna_start": 6076,
"cds_end": null,
"cds_length": 7119,
"cds_start": 5773,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000636930.2",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5773C>T",
"hgvs_p": "p.Arg1925*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001374828.1",
"protein_coding": true,
"protein_id": "ENSP00000490491.2",
"strand": true,
"transcript": "ENST00000636930.2",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2332,
"aa_ref": "R",
"aa_start": 1885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10813,
"cdna_start": 6579,
"cds_end": null,
"cds_length": 6999,
"cds_start": 5653,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000346085.10",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5653C>T",
"hgvs_p": "p.Arg1885*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344546.5",
"strand": true,
"transcript": "ENST00000346085.10",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2319,
"aa_ref": "R",
"aa_start": 1872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8211,
"cdna_start": 5614,
"cds_end": null,
"cds_length": 6960,
"cds_start": 5614,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000350026.11",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5614C>T",
"hgvs_p": "p.Arg1872*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000055163.8",
"strand": true,
"transcript": "ENST00000350026.11",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1486,
"aa_ref": "R",
"aa_start": 1039,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5073,
"cdna_start": 3257,
"cds_end": null,
"cds_length": 4461,
"cds_start": 3115,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000637810.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3115C>T",
"hgvs_p": "p.Arg1039*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489636.1",
"strand": true,
"transcript": "ENST00000637810.1",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2415,
"aa_ref": "R",
"aa_start": 1968,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10439,
"cdna_start": 6205,
"cds_end": null,
"cds_length": 7248,
"cds_start": 5902,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001438482.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5902C>T",
"hgvs_p": "p.Arg1968*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425411.1",
"strand": true,
"transcript": "NM_001438482.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2415,
"aa_ref": "R",
"aa_start": 1968,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8616,
"cdna_start": 5902,
"cds_end": null,
"cds_length": 7248,
"cds_start": 5902,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000637015.2",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5902C>T",
"hgvs_p": "p.Arg1968*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489729.2",
"strand": true,
"transcript": "ENST00000637015.2",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2386,
"aa_ref": "R",
"aa_start": 1939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10352,
"cdna_start": 6118,
"cds_end": null,
"cds_length": 7161,
"cds_start": 5815,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001438483.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5815C>T",
"hgvs_p": "p.Arg1939*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425412.1",
"strand": true,
"transcript": "NM_001438483.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2366,
"aa_ref": "R",
"aa_start": 1919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8568,
"cdna_start": 5854,
"cds_end": null,
"cds_length": 7101,
"cds_start": 5755,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000938503.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5755C>T",
"hgvs_p": "p.Arg1919*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608562.1",
"strand": true,
"transcript": "ENST00000938503.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2342,
"aa_ref": "R",
"aa_start": 1895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10220,
"cdna_start": 5986,
"cds_end": null,
"cds_length": 7029,
"cds_start": 5683,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001438485.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5683C>T",
"hgvs_p": "p.Arg1895*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425414.1",
"strand": true,
"transcript": "NM_001438485.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2342,
"aa_ref": "R",
"aa_start": 1895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8280,
"cdna_start": 5683,
"cds_end": null,
"cds_length": 7029,
"cds_start": 5683,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000414678.8",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5683C>T",
"hgvs_p": "p.Arg1895*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412835.3",
"strand": true,
"transcript": "ENST00000414678.8",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2333,
"aa_ref": "R",
"aa_start": 1886,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10193,
"cdna_start": 5959,
"cds_end": null,
"cds_length": 7002,
"cds_start": 5656,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001438486.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5656C>T",
"hgvs_p": "p.Arg1886*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425415.1",
"strand": true,
"transcript": "NM_001438486.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2332,
"aa_ref": "R",
"aa_start": 1885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10807,
"cdna_start": 6573,
"cds_end": null,
"cds_length": 6999,
"cds_start": 5653,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001371656.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5653C>T",
"hgvs_p": "p.Arg1885*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358585.1",
"strand": true,
"transcript": "NM_001371656.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2332,
"aa_ref": "R",
"aa_start": 1885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10190,
"cdna_start": 5956,
"cds_end": null,
"cds_length": 6999,
"cds_start": 5653,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001374820.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5653C>T",
"hgvs_p": "p.Arg1885*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361749.1",
"strand": true,
"transcript": "NM_001374820.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2319,
"aa_ref": "R",
"aa_start": 1872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10151,
"cdna_start": 5917,
"cds_end": null,
"cds_length": 6960,
"cds_start": 5614,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_017519.3",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5614C>T",
"hgvs_p": "p.Arg1872*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_059989.3",
"strand": true,
"transcript": "NM_017519.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2312,
"aa_ref": "R",
"aa_start": 1865,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10130,
"cdna_start": 5896,
"cds_end": null,
"cds_length": 6939,
"cds_start": 5593,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001438487.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.5593C>T",
"hgvs_p": "p.Arg1865*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425416.1",
"strand": true,
"transcript": "NM_001438487.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1539,
"aa_ref": "R",
"aa_start": 1092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7897,
"cdna_start": 3663,
"cds_end": null,
"cds_length": 4620,
"cds_start": 3274,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001363725.2",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3274C>T",
"hgvs_p": "p.Arg1092*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350654.1",
"strand": true,
"transcript": "NM_001363725.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1539,
"aa_ref": "R",
"aa_start": 1092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5913,
"cdna_start": 3775,
"cds_end": null,
"cds_length": 4620,
"cds_start": 3274,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000637904.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3274C>T",
"hgvs_p": "p.Arg1092*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490550.1",
"strand": true,
"transcript": "ENST00000637904.1",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1486,
"aa_ref": "R",
"aa_start": 1039,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7738,
"cdna_start": 3504,
"cds_end": null,
"cds_length": 4461,
"cds_start": 3115,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001438488.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3115C>T",
"hgvs_p": "p.Arg1039*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425417.1",
"strand": true,
"transcript": "NM_001438488.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1479,
"aa_ref": "R",
"aa_start": 1032,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5830,
"cdna_start": 3681,
"cds_end": null,
"cds_length": 4440,
"cds_start": 3094,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000635849.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3094C>T",
"hgvs_p": "p.Arg1032*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490948.1",
"strand": true,
"transcript": "ENST00000635849.1",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1348,
"aa_ref": "R",
"aa_start": 909,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4048,
"cdna_start": 2725,
"cds_end": null,
"cds_length": 4048,
"cds_start": 2725,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 13,
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