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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: 19-18123611-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18123611&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAST3",
"hgnc_id": 19036,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Glu205Lys",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001393501.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.7693,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.09,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.744211733341217,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1347,
"aa_ref": "E",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6020,
"cdna_start": 604,
"cds_end": null,
"cds_length": 4044,
"cds_start": 589,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001393504.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Glu197Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000687212.1",
"protein_coding": true,
"protein_id": "NP_001380433.1",
"strand": true,
"transcript": "NM_001393504.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1347,
"aa_ref": "E",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6020,
"cdna_start": 604,
"cds_end": null,
"cds_length": 4044,
"cds_start": 589,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000687212.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Glu197Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001393504.1",
"protein_coding": true,
"protein_id": "ENSP00000509890.1",
"strand": true,
"transcript": "ENST00000687212.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1309,
"aa_ref": "E",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5896,
"cdna_start": 502,
"cds_end": null,
"cds_length": 3930,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000262811.10",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262811.4",
"strand": true,
"transcript": "ENST00000262811.10",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1355,
"aa_ref": "E",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6044,
"cdna_start": 628,
"cds_end": null,
"cds_length": 4068,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001393501.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Glu205Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380430.1",
"strand": true,
"transcript": "NM_001393501.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1348,
"aa_ref": "E",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6023,
"cdna_start": 607,
"cds_end": null,
"cds_length": 4047,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001393502.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Glu198Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380431.1",
"strand": true,
"transcript": "NM_001393502.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1347,
"aa_ref": "E",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6149,
"cdna_start": 733,
"cds_end": null,
"cds_length": 4044,
"cds_start": 589,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001393503.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Glu197Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380432.1",
"strand": true,
"transcript": "NM_001393503.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "E",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6119,
"cdna_start": 730,
"cds_end": null,
"cds_length": 4014,
"cds_start": 586,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001393505.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Glu196Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380434.1",
"strand": true,
"transcript": "NM_001393505.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1331,
"aa_ref": "E",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6136,
"cdna_start": 720,
"cds_end": null,
"cds_length": 3996,
"cds_start": 541,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001393506.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380435.1",
"strand": true,
"transcript": "NM_001393506.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1331,
"aa_ref": "E",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6101,
"cdna_start": 712,
"cds_end": null,
"cds_length": 3996,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001393507.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.568G>A",
"hgvs_p": "p.Glu190Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380436.1",
"strand": true,
"transcript": "NM_001393507.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1331,
"aa_ref": "E",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6112,
"cdna_start": 718,
"cds_end": null,
"cds_length": 3996,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000697701.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.568G>A",
"hgvs_p": "p.Glu190Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513408.1",
"strand": true,
"transcript": "ENST00000697701.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1326,
"aa_ref": "E",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 553,
"cds_end": null,
"cds_length": 3981,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000893417.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Glu176Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563476.1",
"strand": true,
"transcript": "ENST00000893417.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1325,
"aa_ref": "E",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5954,
"cdna_start": 538,
"cds_end": null,
"cds_length": 3978,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001393508.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Glu175Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380437.1",
"strand": true,
"transcript": "NM_001393508.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1324,
"aa_ref": "E",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5951,
"cdna_start": 535,
"cds_end": null,
"cds_length": 3975,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001393509.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380438.1",
"strand": true,
"transcript": "NM_001393509.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1324,
"aa_ref": "E",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6115,
"cdna_start": 699,
"cds_end": null,
"cds_length": 3975,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001393510.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380439.1",
"strand": true,
"transcript": "NM_001393510.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1323,
"aa_ref": "E",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6112,
"cdna_start": 696,
"cds_end": null,
"cds_length": 3972,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001393511.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.517G>A",
"hgvs_p": "p.Glu173Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380440.1",
"strand": true,
"transcript": "NM_001393511.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1323,
"aa_ref": "E",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5948,
"cdna_start": 535,
"cds_end": null,
"cds_length": 3972,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001393512.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380441.1",
"strand": true,
"transcript": "NM_001393512.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1322,
"aa_ref": "E",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6109,
"cdna_start": 720,
"cds_end": null,
"cds_length": 3969,
"cds_start": 541,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001393513.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380442.1",
"strand": true,
"transcript": "NM_001393513.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1318,
"aa_ref": "E",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5933,
"cdna_start": 517,
"cds_end": null,
"cds_length": 3957,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001393514.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380443.1",
"strand": true,
"transcript": "NM_001393514.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1318,
"aa_ref": "E",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5967,
"cdna_start": 546,
"cds_end": null,
"cds_length": 3957,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000893415.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563474.1",
"strand": true,
"transcript": "ENST00000893415.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1317,
"aa_ref": "E",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5930,
"cdna_start": 514,
"cds_end": null,
"cds_length": 3954,
"cds_start": 499,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001393515.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Glu167Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380444.1",
"strand": true,
"transcript": "NM_001393515.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1316,
"aa_ref": "E",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5927,
"cdna_start": 538,
"cds_end": null,
"cds_length": 3951,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001393516.1",
"gene_hgnc_id": 19036,
"gene_symbol": "MAST3",
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Glu175Lys",
"intron_rank": null,
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