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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: 6-157167101-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=157167101&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ARID1B",
"hgnc_id": 18040,
"hgvs_c": "c.3280C>T",
"hgvs_p": "p.Gln1094*",
"inheritance_mode": "AD",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_001438482.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.65,
"chr": "6",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "6 conditions",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6499999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2372,
"aa_ref": "Q",
"aa_start": 1051,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10310,
"cdna_start": 3454,
"cds_end": null,
"cds_length": 7119,
"cds_start": 3151,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001374828.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3151C>T",
"hgvs_p": "p.Gln1051*",
"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": "Q",
"aa_start": 1051,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10310,
"cdna_start": 3454,
"cds_end": null,
"cds_length": 7119,
"cds_start": 3151,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000636930.2",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3151C>T",
"hgvs_p": "p.Gln1051*",
"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": "Q",
"aa_start": 1064,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10813,
"cdna_start": 4116,
"cds_end": null,
"cds_length": 6999,
"cds_start": 3190,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000346085.10",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3190C>T",
"hgvs_p": "p.Gln1064*",
"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": "Q",
"aa_start": 1051,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8211,
"cdna_start": 3151,
"cds_end": null,
"cds_length": 6960,
"cds_start": 3151,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000350026.11",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3151C>T",
"hgvs_p": "p.Gln1051*",
"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": "Q",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5073,
"cdna_start": 794,
"cds_end": null,
"cds_length": 4461,
"cds_start": 652,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000637810.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.652C>T",
"hgvs_p": "p.Gln218*",
"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": "Q",
"aa_start": 1094,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10439,
"cdna_start": 3583,
"cds_end": null,
"cds_length": 7248,
"cds_start": 3280,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001438482.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3280C>T",
"hgvs_p": "p.Gln1094*",
"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": "Q",
"aa_start": 1094,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8616,
"cdna_start": 3280,
"cds_end": null,
"cds_length": 7248,
"cds_start": 3280,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000637015.2",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3280C>T",
"hgvs_p": "p.Gln1094*",
"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": "Q",
"aa_start": 1065,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10352,
"cdna_start": 3496,
"cds_end": null,
"cds_length": 7161,
"cds_start": 3193,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001438483.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3193C>T",
"hgvs_p": "p.Gln1065*",
"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": "Q",
"aa_start": 1051,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8568,
"cdna_start": 3250,
"cds_end": null,
"cds_length": 7101,
"cds_start": 3151,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000938503.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3151C>T",
"hgvs_p": "p.Gln1051*",
"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": "Q",
"aa_start": 1021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10220,
"cdna_start": 3364,
"cds_end": null,
"cds_length": 7029,
"cds_start": 3061,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001438485.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3061C>T",
"hgvs_p": "p.Gln1021*",
"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": "Q",
"aa_start": 1021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8280,
"cdna_start": 3061,
"cds_end": null,
"cds_length": 7029,
"cds_start": 3061,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000414678.8",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3061C>T",
"hgvs_p": "p.Gln1021*",
"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": "Q",
"aa_start": 1065,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10193,
"cdna_start": 3496,
"cds_end": null,
"cds_length": 7002,
"cds_start": 3193,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001438486.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3193C>T",
"hgvs_p": "p.Gln1065*",
"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": "Q",
"aa_start": 1064,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10807,
"cdna_start": 4110,
"cds_end": null,
"cds_length": 6999,
"cds_start": 3190,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001371656.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3190C>T",
"hgvs_p": "p.Gln1064*",
"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": "Q",
"aa_start": 1064,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10190,
"cdna_start": 3493,
"cds_end": null,
"cds_length": 6999,
"cds_start": 3190,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001374820.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3190C>T",
"hgvs_p": "p.Gln1064*",
"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": "Q",
"aa_start": 1051,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10151,
"cdna_start": 3454,
"cds_end": null,
"cds_length": 6960,
"cds_start": 3151,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_017519.3",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.3151C>T",
"hgvs_p": "p.Gln1051*",
"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": "Q",
"aa_start": 991,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10130,
"cdna_start": 3274,
"cds_end": null,
"cds_length": 6939,
"cds_start": 2971,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001438487.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.2971C>T",
"hgvs_p": "p.Gln991*",
"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": "Q",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7897,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 4620,
"cds_start": 652,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001363725.2",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.652C>T",
"hgvs_p": "p.Gln218*",
"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": "Q",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5913,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 4620,
"cds_start": 652,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000637904.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.652C>T",
"hgvs_p": "p.Gln218*",
"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": "Q",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7738,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 4461,
"cds_start": 652,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001438488.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.652C>T",
"hgvs_p": "p.Gln218*",
"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": "Q",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5830,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 4440,
"cds_start": 472,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000635849.1",
"gene_hgnc_id": 18040,
"gene_symbol": "ARID1B",
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Gln158*",
"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": "Q",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4048,
"cdna_start": 106,
"cds_end": null,
"cds_length": 4048,
"cds_start": 106,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
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