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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: 20-58669353-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=58669353&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 58669353,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000371141.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "c.456G>T",
"hgvs_p": "p.Glu152Asp",
"transcript": "NM_001001433.3",
"protein_id": "NP_001001433.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 325,
"cds_start": 456,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 4937,
"mane_select": "ENST00000371141.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "c.456G>T",
"hgvs_p": "p.Glu152Asp",
"transcript": "ENST00000371141.8",
"protein_id": "ENSP00000360183.4",
"transcript_support_level": 2,
"aa_start": 152,
"aa_end": null,
"aa_length": 325,
"cds_start": 456,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 4937,
"mane_select": "NM_001001433.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Glu148Asp",
"transcript": "ENST00000358029.8",
"protein_id": "ENSP00000350723.4",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 321,
"cds_start": 444,
"cds_end": null,
"cds_length": 966,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 4329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "c.393G>T",
"hgvs_p": "p.Glu131Asp",
"transcript": "ENST00000371132.8",
"protein_id": "ENSP00000360173.4",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 304,
"cds_start": 393,
"cds_end": null,
"cds_length": 915,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 4552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX16-NPEPL1",
"gene_hgnc_id": 41993,
"hgvs_c": "n.456G>T",
"hgvs_p": null,
"transcript": "ENST00000530122.1",
"protein_id": "ENSP00000457522.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "n.343-1159G>T",
"hgvs_p": null,
"transcript": "ENST00000467096.5",
"protein_id": "ENSP00000434369.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Glu148Asp",
"transcript": "NM_001134772.3",
"protein_id": "NP_001128244.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 321,
"cds_start": 444,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1168,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "c.405G>T",
"hgvs_p": "p.Glu135Asp",
"transcript": "NM_001134773.3",
"protein_id": "NP_001128245.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 308,
"cds_start": 405,
"cds_end": null,
"cds_length": 927,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 4886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "c.405G>T",
"hgvs_p": "p.Glu135Asp",
"transcript": "ENST00000355957.9",
"protein_id": "ENSP00000348229.5",
"transcript_support_level": 2,
"aa_start": 135,
"aa_end": null,
"aa_length": 308,
"cds_start": 405,
"cds_end": null,
"cds_length": 927,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 4897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "c.393G>T",
"hgvs_p": "p.Glu131Asp",
"transcript": "NM_003763.6",
"protein_id": "NP_003754.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 304,
"cds_start": 393,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 4874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "c.297G>T",
"hgvs_p": "p.Glu99Asp",
"transcript": "NM_001204868.2",
"protein_id": "NP_001191797.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 272,
"cds_start": 297,
"cds_end": null,
"cds_length": 819,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 4299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "c.297G>T",
"hgvs_p": "p.Glu99Asp",
"transcript": "ENST00000359617.8",
"protein_id": "ENSP00000352634.4",
"transcript_support_level": 5,
"aa_start": 99,
"aa_end": null,
"aa_length": 272,
"cds_start": 297,
"cds_end": null,
"cds_length": 819,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 4273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "c.282G>T",
"hgvs_p": "p.Glu94Asp",
"transcript": "ENST00000438253.1",
"protein_id": "ENSP00000401801.1",
"transcript_support_level": 2,
"aa_start": 94,
"aa_end": null,
"aa_length": 219,
"cds_start": 282,
"cds_end": null,
"cds_length": 660,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "c.297G>T",
"hgvs_p": "p.Glu99Asp",
"transcript": "ENST00000312283.12",
"protein_id": "ENSP00000312086.8",
"transcript_support_level": 3,
"aa_start": 99,
"aa_end": null,
"aa_length": 203,
"cds_start": 297,
"cds_end": null,
"cds_length": 613,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "c.297G>T",
"hgvs_p": "p.Glu99Asp",
"transcript": "ENST00000458280.5",
"protein_id": "ENSP00000388348.1",
"transcript_support_level": 4,
"aa_start": 99,
"aa_end": null,
"aa_length": 121,
"cds_start": 297,
"cds_end": null,
"cds_length": 368,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "c.297G>T",
"hgvs_p": "p.Glu99Asp",
"transcript": "ENST00000412911.5",
"protein_id": "ENSP00000416852.1",
"transcript_support_level": 4,
"aa_start": 99,
"aa_end": null,
"aa_length": 119,
"cds_start": 297,
"cds_end": null,
"cds_length": 362,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "n.405G>T",
"hgvs_p": null,
"transcript": "ENST00000464640.5",
"protein_id": "ENSP00000432414.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "n.355G>T",
"hgvs_p": null,
"transcript": "ENST00000468590.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX16-NPEPL1",
"gene_hgnc_id": 41993,
"hgvs_c": "n.1210G>T",
"hgvs_p": null,
"transcript": "NR_037945.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "n.*105-1159G>T",
"hgvs_p": null,
"transcript": "ENST00000460655.5",
"protein_id": "ENSP00000435118.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "n.235-1159G>T",
"hgvs_p": null,
"transcript": "ENST00000476384.5",
"protein_id": "ENSP00000437209.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "n.235-1159G>T",
"hgvs_p": null,
"transcript": "ENST00000483434.5",
"protein_id": "ENSP00000432823.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STX16",
"gene_hgnc_id": 11431,
"hgvs_c": "n.135-1159G>T",
"hgvs_p": null,
"transcript": "ENST00000490700.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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],
"gene_symbol": "STX16",
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"dbsnp": "rs138647604",
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"computational_score_selected": 0.00893491506576538,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.028,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"acmg_score": -9,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000371141.8",
"gene_symbol": "STX16",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.456G>T",
"hgvs_p": "p.Glu152Asp"
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{
"score": -9,
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"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000530122.1",
"gene_symbol": "STX16-NPEPL1",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.456G>T",
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}
],
"clinvar_disease": "Pseudohypoparathyroidism type 1B,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"phenotype_combined": "Pseudohypoparathyroidism type 1B|not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}