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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: X-11765621-AGT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=11765621&ref=AGT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "MSL3",
"hgnc_id": 7370,
"hgvs_c": "c.1065_1066delTG",
"hgvs_p": "p.Ala356fs",
"inheritance_mode": "XL",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_078629.4",
"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": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Intellectual disability",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 521,
"aa_ref": "SA",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1065,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_078629.4",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.1065_1066delTG",
"hgvs_p": "p.Ala356fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000312196.10",
"protein_coding": true,
"protein_id": "NP_523353.2",
"strand": true,
"transcript": "NM_078629.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 521,
"aa_ref": "SA",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1065,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000312196.10",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.1065_1066delTG",
"hgvs_p": "p.Ala356fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_078629.4",
"protein_coding": true,
"protein_id": "ENSP00000312244.4",
"strand": true,
"transcript": "ENST00000312196.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 520,
"aa_ref": "SA",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1062,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000647869.1",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.1062_1063delTG",
"hgvs_p": "p.Ala355fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497615.1",
"strand": true,
"transcript": "ENST00000647869.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 509,
"aa_ref": "SA",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2330,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1029,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001193270.2",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.1029_1030delTG",
"hgvs_p": "p.Ala344fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180199.1",
"strand": true,
"transcript": "NM_001193270.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 509,
"aa_ref": "SA",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2329,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1029,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000398527.7",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.1029_1030delTG",
"hgvs_p": "p.Ala344fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381538.2",
"strand": true,
"transcript": "ENST00000398527.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": "SA",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2027,
"cdna_start": 965,
"cds_end": null,
"cds_length": 1464,
"cds_start": 963,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000649130.1",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.963_964delTG",
"hgvs_p": "p.Ala322fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497949.1",
"strand": true,
"transcript": "ENST00000649130.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 431,
"aa_ref": "SA",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 1296,
"cds_start": 1065,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000647857.1",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.1065_1066delTG",
"hgvs_p": "p.Ala356fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497753.1",
"strand": true,
"transcript": "ENST00000647857.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 416,
"aa_ref": "SA",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3446,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1065,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_078628.2",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.1065_1066delTG",
"hgvs_p": "p.Ala356fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_523352.1",
"strand": true,
"transcript": "NM_078628.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 416,
"aa_ref": "SA",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3480,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1065,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000337339.7",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.1065_1066delTG",
"hgvs_p": "p.Ala356fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000338078.2",
"strand": true,
"transcript": "ENST00000337339.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 372,
"aa_ref": "SA",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 1119,
"cds_start": 618,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001282174.1",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.618_619delTG",
"hgvs_p": "p.Ala207fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269103.1",
"strand": true,
"transcript": "NM_001282174.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 372,
"aa_ref": "SA",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2256,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 1119,
"cds_start": 618,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000361672.6",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.618_619delTG",
"hgvs_p": "p.Ala207fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354562.2",
"strand": true,
"transcript": "ENST00000361672.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 372,
"aa_ref": "SA",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2085,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1119,
"cds_start": 618,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000649649.1",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.618_619delTG",
"hgvs_p": "p.Ala207fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497137.1",
"strand": true,
"transcript": "ENST00000649649.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 372,
"aa_ref": "SA",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1788,
"cdna_start": 959,
"cds_end": null,
"cds_length": 1119,
"cds_start": 618,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000649685.1",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.618_619delTG",
"hgvs_p": "p.Ala207fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497496.1",
"strand": true,
"transcript": "ENST00000649685.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 372,
"aa_ref": "SA",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 1119,
"cds_start": 618,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000650215.1",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.618_619delTG",
"hgvs_p": "p.Ala207fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496944.1",
"strand": true,
"transcript": "ENST00000650215.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 355,
"aa_ref": "SA",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2303,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 1068,
"cds_start": 567,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_006800.4",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.567_568delTG",
"hgvs_p": "p.Ala190fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006791.2",
"strand": true,
"transcript": "NM_006800.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 355,
"aa_ref": "SA",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2339,
"cdna_start": 1240,
"cds_end": null,
"cds_length": 1068,
"cds_start": 567,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000482871.6",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.567_568delTG",
"hgvs_p": "p.Ala190fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498064.1",
"strand": true,
"transcript": "ENST00000482871.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 355,
"aa_ref": "SA",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2163,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 1068,
"cds_start": 567,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000648013.1",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.567_568delTG",
"hgvs_p": "p.Ala190fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497518.1",
"strand": true,
"transcript": "ENST00000648013.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 355,
"aa_ref": "SA",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1068,
"cds_start": 567,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000649078.1",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.567_568delTG",
"hgvs_p": "p.Ala190fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498017.1",
"strand": true,
"transcript": "ENST00000649078.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 355,
"aa_ref": "SA",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 1068,
"cds_start": 567,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000649271.1",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.567_568delTG",
"hgvs_p": "p.Ala190fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496967.1",
"strand": true,
"transcript": "ENST00000649271.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 355,
"aa_ref": "SA",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 1068,
"cds_start": 567,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000649602.1",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.567_568delTG",
"hgvs_p": "p.Ala190fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498168.1",
"strand": true,
"transcript": "ENST00000649602.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 355,
"aa_ref": "SA",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2053,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1068,
"cds_start": 567,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000650628.1",
"gene_hgnc_id": 7370,
"gene_symbol": "MSL3",
"hgvs_c": "c.567_568delTG",
"hgvs_p": "p.Ala190fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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