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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: 15-73988648-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=73988648&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "STOML1",
"hgnc_id": 14560,
"hgvs_c": "c.545C>A",
"hgvs_p": "p.Pro182Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_004809.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1768,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.16646087169647217,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6280,
"cdna_start": 617,
"cds_end": null,
"cds_length": 1197,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_004809.5",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.545C>A",
"hgvs_p": "p.Pro182Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000541638.6",
"protein_coding": true,
"protein_id": "NP_004800.2",
"strand": false,
"transcript": "NM_004809.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6280,
"cdna_start": 617,
"cds_end": null,
"cds_length": 1197,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000541638.6",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.545C>A",
"hgvs_p": "p.Pro182Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004809.5",
"protein_coding": true,
"protein_id": "ENSP00000442478.2",
"strand": false,
"transcript": "ENST00000541638.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 348,
"aa_ref": "P",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": 520,
"cds_end": null,
"cds_length": 1047,
"cds_start": 395,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000316911.10",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.395C>A",
"hgvs_p": "p.Pro132Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319384.6",
"strand": false,
"transcript": "ENST00000316911.10",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 347,
"aa_ref": "P",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1849,
"cdna_start": 469,
"cds_end": null,
"cds_length": 1044,
"cds_start": 395,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000564777.5",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.395C>A",
"hgvs_p": "p.Pro132Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456343.1",
"strand": false,
"transcript": "ENST00000564777.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 327,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 984,
"cdna_start": 545,
"cds_end": null,
"cds_length": 984,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000359750.8",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.545C>A",
"hgvs_p": "p.Pro182Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352788.4",
"strand": false,
"transcript": "ENST00000359750.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 397,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6277,
"cdna_start": 617,
"cds_end": null,
"cds_length": 1194,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001256672.2",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.545C>A",
"hgvs_p": "p.Pro182Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243601.1",
"strand": false,
"transcript": "NM_001256672.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 394,
"aa_ref": "P",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1922,
"cdna_start": 555,
"cds_end": null,
"cds_length": 1185,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000958642.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.533C>A",
"hgvs_p": "p.Pro178Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628701.1",
"strand": false,
"transcript": "ENST00000958642.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 391,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1917,
"cdna_start": 569,
"cds_end": null,
"cds_length": 1176,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000958641.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.545C>A",
"hgvs_p": "p.Pro182Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628700.1",
"strand": false,
"transcript": "ENST00000958641.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 389,
"aa_ref": "P",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1977,
"cdna_start": 602,
"cds_end": null,
"cds_length": 1170,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000903412.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.518C>A",
"hgvs_p": "p.Pro173Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573471.1",
"strand": false,
"transcript": "ENST00000903412.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 388,
"aa_ref": "P",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2005,
"cdna_start": 633,
"cds_end": null,
"cds_length": 1167,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000903410.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.518C>A",
"hgvs_p": "p.Pro173Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573469.1",
"strand": false,
"transcript": "ENST00000903410.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 363,
"aa_ref": "P",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": 512,
"cds_end": null,
"cds_length": 1092,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000903413.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.440C>A",
"hgvs_p": "p.Pro147Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573472.1",
"strand": false,
"transcript": "ENST00000903413.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 356,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6411,
"cdna_start": 748,
"cds_end": null,
"cds_length": 1071,
"cds_start": 419,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001324230.2",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.419C>A",
"hgvs_p": "p.Pro140Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311159.1",
"strand": false,
"transcript": "NM_001324230.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 355,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2169,
"cdna_start": 801,
"cds_end": null,
"cds_length": 1068,
"cds_start": 419,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001256677.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.419C>A",
"hgvs_p": "p.Pro140Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243606.1",
"strand": false,
"transcript": "NM_001256677.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 355,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2169,
"cdna_start": 801,
"cds_end": null,
"cds_length": 1068,
"cds_start": 419,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000316900.9",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.419C>A",
"hgvs_p": "p.Pro140Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319323.6",
"strand": false,
"transcript": "ENST00000316900.9",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 348,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": 520,
"cds_end": null,
"cds_length": 1047,
"cds_start": 395,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001256673.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.395C>A",
"hgvs_p": "p.Pro132Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243602.1",
"strand": false,
"transcript": "NM_001256673.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 347,
"aa_ref": "P",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6127,
"cdna_start": 467,
"cds_end": null,
"cds_length": 1044,
"cds_start": 395,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001256674.2",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.395C>A",
"hgvs_p": "p.Pro132Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243603.1",
"strand": false,
"transcript": "NM_001256674.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 327,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6067,
"cdna_start": 617,
"cds_end": null,
"cds_length": 984,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001256675.2",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.545C>A",
"hgvs_p": "p.Pro182Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243604.1",
"strand": false,
"transcript": "NM_001256675.2",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 541,
"cds_end": null,
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"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000958643.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.518C>A",
"hgvs_p": "p.Pro173Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628702.1",
"strand": false,
"transcript": "ENST00000958643.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1855,
"cdna_start": 484,
"cds_end": null,
"cds_length": 936,
"cds_start": 284,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001324227.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.284C>A",
"hgvs_p": "p.Pro95Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311156.1",
"strand": false,
"transcript": "NM_001324227.1",
"transcript_support_level": null
},
{
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"aa_length": 311,
"aa_ref": "P",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6158,
"cdna_start": 495,
"cds_end": null,
"cds_length": 936,
"cds_start": 284,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001324228.2",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.284C>A",
"hgvs_p": "p.Pro95Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311157.1",
"strand": false,
"transcript": "NM_001324228.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 310,
"aa_ref": "P",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 484,
"cds_end": null,
"cds_length": 933,
"cds_start": 284,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001256676.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.284C>A",
"hgvs_p": "p.Pro95Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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