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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: 12-49494763-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=49494763&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SPATS2",
"hgnc_id": 18650,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_023071.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 392,
"alphamissense_prediction": null,
"alphamissense_score": 0.101,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.08,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3415815830230713,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 545,
"aa_ref": "P",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3240,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1638,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_023071.4",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000552918.6",
"protein_coding": true,
"protein_id": "NP_075559.2",
"strand": true,
"transcript": "NM_023071.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 545,
"aa_ref": "P",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3240,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1638,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000552918.6",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_023071.4",
"protein_coding": true,
"protein_id": "ENSP00000447947.2",
"strand": true,
"transcript": "ENST00000552918.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 545,
"aa_ref": "P",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": 643,
"cds_end": null,
"cds_length": 1638,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000321898.10",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000326841.6",
"strand": true,
"transcript": "ENST00000321898.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 545,
"aa_ref": "P",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3320,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1638,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000553127.5",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448228.1",
"strand": true,
"transcript": "ENST00000553127.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 545,
"aa_ref": "P",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3324,
"cdna_start": 803,
"cds_end": null,
"cds_length": 1638,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001293285.2",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001280214.1",
"strand": true,
"transcript": "NM_001293285.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 545,
"aa_ref": "P",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": 656,
"cds_end": null,
"cds_length": 1638,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001293286.2",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001280215.1",
"strand": true,
"transcript": "NM_001293286.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 545,
"aa_ref": "P",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4189,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1638,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000903511.1",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573570.1",
"strand": true,
"transcript": "ENST00000903511.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 545,
"aa_ref": "P",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3859,
"cdna_start": 1346,
"cds_end": null,
"cds_length": 1638,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000903512.1",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573571.1",
"strand": true,
"transcript": "ENST00000903512.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 545,
"aa_ref": "P",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3521,
"cdna_start": 984,
"cds_end": null,
"cds_length": 1638,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000903513.1",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573572.1",
"strand": true,
"transcript": "ENST00000903513.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 545,
"aa_ref": "P",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": 884,
"cds_end": null,
"cds_length": 1638,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000903514.1",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573573.1",
"strand": true,
"transcript": "ENST00000903514.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 545,
"aa_ref": "P",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3393,
"cdna_start": 856,
"cds_end": null,
"cds_length": 1638,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000932995.1",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603054.1",
"strand": true,
"transcript": "ENST00000932995.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 545,
"aa_ref": "P",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3242,
"cdna_start": 729,
"cds_end": null,
"cds_length": 1638,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932996.1",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603055.1",
"strand": true,
"transcript": "ENST00000932996.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 545,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3335,
"cdna_start": 822,
"cds_end": null,
"cds_length": 1638,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932997.1",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603056.1",
"strand": true,
"transcript": "ENST00000932997.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 545,
"aa_ref": "P",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1638,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000933000.1",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603059.1",
"strand": true,
"transcript": "ENST00000933000.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 545,
"aa_ref": "P",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3279,
"cdna_start": 769,
"cds_end": null,
"cds_length": 1638,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000933002.1",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603061.1",
"strand": true,
"transcript": "ENST00000933002.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 545,
"aa_ref": "P",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2209,
"cdna_start": 753,
"cds_end": null,
"cds_length": 1638,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952610.1",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622669.1",
"strand": true,
"transcript": "ENST00000952610.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 542,
"aa_ref": "P",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3239,
"cdna_start": 726,
"cds_end": null,
"cds_length": 1629,
"cds_start": 278,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000933001.1",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603060.1",
"strand": true,
"transcript": "ENST00000933001.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 541,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2148,
"cdna_start": 697,
"cds_end": null,
"cds_length": 1626,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000933004.1",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603063.1",
"strand": true,
"transcript": "ENST00000933004.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 492,
"aa_ref": "P",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2758,
"cdna_start": 585,
"cds_end": null,
"cds_length": 1479,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000933003.1",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Pro43Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603062.1",
"strand": true,
"transcript": "ENST00000933003.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 492,
"aa_ref": "P",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2473,
"cdna_start": 450,
"cds_end": null,
"cds_length": 1479,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000952609.1",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Pro43Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622668.1",
"strand": true,
"transcript": "ENST00000952609.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3068,
"cdna_start": 728,
"cds_end": null,
"cds_length": 1461,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000932998.1",
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"intron_rank": null,
"intron_rank_end": null,
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"transcript": "ENST00000549045.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs146383919",
"effect": "missense_variant",
"frequency_reference_population": 0.0002491971,
"gene_hgnc_id": 18650,
"gene_symbol": "SPATS2",
"gnomad_exomes_ac": 369,
"gnomad_exomes_af": 0.000259615,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 23,
"gnomad_genomes_af": 0.000151601,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.146,
"pos": 49494763,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.323,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_023071.4"
}
]
}