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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: 19-18103711-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18103711&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18103711,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000687212.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "NM_001393504.1",
"protein_id": "NP_001380433.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1347,
"cds_start": -4,
"cds_end": null,
"cds_length": 4044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6020,
"mane_select": "ENST00000687212.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "ENST00000687212.1",
"protein_id": "ENSP00000509890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1347,
"cds_start": -4,
"cds_end": null,
"cds_length": 4044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6020,
"mane_select": "NM_001393504.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "ENST00000262811.10",
"protein_id": "ENSP00000262811.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1309,
"cds_start": -4,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "NM_001393501.1",
"protein_id": "NP_001380430.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1355,
"cds_start": -4,
"cds_end": null,
"cds_length": 4068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "NM_001393502.1",
"protein_id": "NP_001380431.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1348,
"cds_start": -4,
"cds_end": null,
"cds_length": 4047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "NM_001393508.1",
"protein_id": "NP_001380437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1325,
"cds_start": -4,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "NM_001393509.1",
"protein_id": "NP_001380438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1324,
"cds_start": -4,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "NM_001393512.1",
"protein_id": "NP_001380441.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1323,
"cds_start": -4,
"cds_end": null,
"cds_length": 3972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "NM_001393514.1",
"protein_id": "NP_001380443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1318,
"cds_start": -4,
"cds_end": null,
"cds_length": 3957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "NM_001393515.1",
"protein_id": "NP_001380444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1317,
"cds_start": -4,
"cds_end": null,
"cds_length": 3954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "NM_001393516.1",
"protein_id": "NP_001380445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1316,
"cds_start": -4,
"cds_end": null,
"cds_length": 3951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "NM_001393518.1",
"protein_id": "NP_001380447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1315,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "NM_015016.2",
"protein_id": "NP_055831.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1309,
"cds_start": -4,
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"cds_length": 3930,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "NM_001393520.1",
"protein_id": "NP_001380449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1308,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "ENST00000697700.2",
"protein_id": "ENSP00000513407.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1031,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "ENST00000704363.1",
"protein_id": "ENSP00000515871.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "XM_047438474.1",
"protein_id": "XP_047294430.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1354,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "XM_047438476.1",
"protein_id": "XP_047294432.1",
"transcript_support_level": null,
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"aa_end": null,
"aa_length": 1346,
"cds_start": -4,
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"cds_length": 4041,
"cdna_start": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 1,
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"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "XM_047438477.1",
"protein_id": "XP_047294433.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 1,
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"gene_symbol": "MAST3",
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"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "XM_047438480.1",
"protein_id": "XP_047294436.1",
"transcript_support_level": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null,
"transcript": "XM_047438482.1",
"protein_id": "XP_047294438.1",
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MAST3",
"gene_hgnc_id": 19036,
"dbsnp": "rs11668601",
"frequency_reference_population": 0.0000065766108,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657661,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.402,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000687212.1",
"gene_symbol": "MAST3",
"hgnc_id": 19036,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.40-3876T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}