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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: 19-18146940-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18146940&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18146940,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000687212.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3222C>T",
"hgvs_p": "p.Gly1074Gly",
"transcript": "NM_001393504.1",
"protein_id": "NP_001380433.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1347,
"cds_start": 3222,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 3237,
"cdna_end": null,
"cdna_length": 6020,
"mane_select": "ENST00000687212.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3222C>T",
"hgvs_p": "p.Gly1074Gly",
"transcript": "ENST00000687212.1",
"protein_id": "ENSP00000509890.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1347,
"cds_start": 3222,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 3237,
"cdna_end": null,
"cdna_length": 6020,
"mane_select": "NM_001393504.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3135C>T",
"hgvs_p": "p.Gly1045Gly",
"transcript": "ENST00000262811.10",
"protein_id": "ENSP00000262811.4",
"transcript_support_level": 1,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1309,
"cds_start": 3135,
"cds_end": null,
"cds_length": 3930,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3246C>T",
"hgvs_p": "p.Gly1082Gly",
"transcript": "NM_001393501.1",
"protein_id": "NP_001380430.1",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1355,
"cds_start": 3246,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 3261,
"cdna_end": null,
"cdna_length": 6044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3225C>T",
"hgvs_p": "p.Gly1075Gly",
"transcript": "NM_001393502.1",
"protein_id": "NP_001380431.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3225,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 3240,
"cdna_end": null,
"cdna_length": 6023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3222C>T",
"hgvs_p": "p.Gly1074Gly",
"transcript": "NM_001393503.1",
"protein_id": "NP_001380432.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1347,
"cds_start": 3222,
"cds_end": null,
"cds_length": 4044,
"cdna_start": 3366,
"cdna_end": null,
"cdna_length": 6149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3219C>T",
"hgvs_p": "p.Gly1073Gly",
"transcript": "NM_001393505.1",
"protein_id": "NP_001380434.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3219,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 3363,
"cdna_end": null,
"cdna_length": 6119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3174C>T",
"hgvs_p": "p.Gly1058Gly",
"transcript": "NM_001393506.1",
"protein_id": "NP_001380435.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3174,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 3353,
"cdna_end": null,
"cdna_length": 6136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3201C>T",
"hgvs_p": "p.Gly1067Gly",
"transcript": "NM_001393507.1",
"protein_id": "NP_001380436.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3201,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 3345,
"cdna_end": null,
"cdna_length": 6101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3201C>T",
"hgvs_p": "p.Gly1067Gly",
"transcript": "ENST00000697701.1",
"protein_id": "ENSP00000513408.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3201,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 3351,
"cdna_end": null,
"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3156C>T",
"hgvs_p": "p.Gly1052Gly",
"transcript": "NM_001393508.1",
"protein_id": "NP_001380437.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3156,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 3171,
"cdna_end": null,
"cdna_length": 5954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3153C>T",
"hgvs_p": "p.Gly1051Gly",
"transcript": "NM_001393509.1",
"protein_id": "NP_001380438.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 3168,
"cdna_end": null,
"cdna_length": 5951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3153C>T",
"hgvs_p": "p.Gly1051Gly",
"transcript": "NM_001393510.1",
"protein_id": "NP_001380439.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 3332,
"cdna_end": null,
"cdna_length": 6115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3150C>T",
"hgvs_p": "p.Gly1050Gly",
"transcript": "NM_001393511.1",
"protein_id": "NP_001380440.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1323,
"cds_start": 3150,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 3329,
"cdna_end": null,
"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3153C>T",
"hgvs_p": "p.Gly1051Gly",
"transcript": "NM_001393512.1",
"protein_id": "NP_001380441.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1323,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 3168,
"cdna_end": null,
"cdna_length": 5948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3174C>T",
"hgvs_p": "p.Gly1058Gly",
"transcript": "NM_001393513.1",
"protein_id": "NP_001380442.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1322,
"cds_start": 3174,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 3353,
"cdna_end": null,
"cdna_length": 6109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3135C>T",
"hgvs_p": "p.Gly1045Gly",
"transcript": "NM_001393514.1",
"protein_id": "NP_001380443.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3135,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 3150,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3132C>T",
"hgvs_p": "p.Gly1044Gly",
"transcript": "NM_001393515.1",
"protein_id": "NP_001380444.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1317,
"cds_start": 3132,
"cds_end": null,
"cds_length": 3954,
"cdna_start": 3147,
"cdna_end": null,
"cdna_length": 5930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3156C>T",
"hgvs_p": "p.Gly1052Gly",
"transcript": "NM_001393516.1",
"protein_id": "NP_001380445.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3156,
"cds_end": null,
"cds_length": 3951,
"cdna_start": 3171,
"cdna_end": null,
"cdna_length": 5927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3153C>T",
"hgvs_p": "p.Gly1051Gly",
"transcript": "NM_001393517.1",
"protein_id": "NP_001380446.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 3332,
"cdna_end": null,
"cdna_length": 6088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3153C>T",
"hgvs_p": "p.Gly1051Gly",
"transcript": "NM_001393518.1",
"protein_id": "NP_001380447.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 3168,
"cdna_end": null,
"cdna_length": 5924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.3153C>T",
"hgvs_p": "p.Gly1051Gly",
"transcript": "ENST00000697702.1",
"protein_id": "ENSP00000513409.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 3478,
"cdna_end": null,
"cdna_length": 6239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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{
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.4000000059604645,
"splice_prediction_selected": "Uncertain_significance",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.467,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.4,
"spliceai_max_prediction": "Uncertain_significance",
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"acmg_score": -8,
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"acmg_by_gene": [
{
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"criteria": [
"BA1"
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"verdict": "Benign",
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"inheritance_mode": "AD",
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{
"score": -8,
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"verdict": "Benign",
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"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}