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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: 3-149527849-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=149527849&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": "WWTR1",
"hgnc_id": 24042,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_015472.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.6558,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.03,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8058300614356995,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 400,
"aa_ref": "P",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5037,
"cdna_start": 1156,
"cds_end": null,
"cds_length": 1203,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_015472.6",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360632.8",
"protein_coding": true,
"protein_id": "NP_056287.1",
"strand": false,
"transcript": "NM_015472.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 400,
"aa_ref": "P",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5037,
"cdna_start": 1156,
"cds_end": null,
"cds_length": 1203,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000360632.8",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015472.6",
"protein_coding": true,
"protein_id": "ENSP00000353847.3",
"strand": false,
"transcript": "ENST00000360632.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 400,
"aa_ref": "P",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5030,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 1203,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001168278.3",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161750.1",
"strand": false,
"transcript": "NM_001168278.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 400,
"aa_ref": "P",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4977,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1203,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001168280.3",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161752.1",
"strand": false,
"transcript": "NM_001168280.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 400,
"aa_ref": "P",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5228,
"cdna_start": 1347,
"cds_end": null,
"cds_length": 1203,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001348362.2",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335291.1",
"strand": false,
"transcript": "NM_001348362.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 400,
"aa_ref": "P",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5030,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 1203,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000465804.5",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419465.1",
"strand": false,
"transcript": "ENST00000465804.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 400,
"aa_ref": "P",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1603,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 1203,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000467467.5",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419234.1",
"strand": false,
"transcript": "ENST00000467467.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 400,
"aa_ref": "P",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3725,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1203,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000884350.1",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554409.1",
"strand": false,
"transcript": "ENST00000884350.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 400,
"aa_ref": "P",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1203,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000884351.1",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554410.1",
"strand": false,
"transcript": "ENST00000884351.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 400,
"aa_ref": "P",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4768,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 1203,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000884352.1",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554411.1",
"strand": false,
"transcript": "ENST00000884352.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 400,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4706,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 1203,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000884353.1",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554412.1",
"strand": false,
"transcript": "ENST00000884353.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 400,
"aa_ref": "P",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3823,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 1203,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000884354.1",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554413.1",
"strand": false,
"transcript": "ENST00000884354.1",
"transcript_support_level": null
},
{
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"aa_length": 400,
"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1026,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
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"feature": "ENST00000884357.1",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554416.1",
"strand": false,
"transcript": "ENST00000884357.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 400,
"aa_ref": "P",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5011,
"cdna_start": 1131,
"cds_end": null,
"cds_length": 1203,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951294.1",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621353.1",
"strand": false,
"transcript": "ENST00000951294.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 400,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1999,
"cdna_start": 1134,
"cds_end": null,
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"cds_start": 892,
"consequences": [
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],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951297.1",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621356.1",
"strand": false,
"transcript": "ENST00000951297.1",
"transcript_support_level": null
},
{
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"aa_length": 400,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1786,
"cdna_start": 918,
"cds_end": null,
"cds_length": 1203,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951298.1",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621357.1",
"strand": false,
"transcript": "ENST00000951298.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 399,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5037,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 1200,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951295.1",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000621354.1",
"strand": false,
"transcript": "ENST00000951295.1",
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},
{
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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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"cds_end": null,
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000884355.1",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Pro294Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554414.1",
"strand": false,
"transcript": "ENST00000884355.1",
"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,
"cdna_length": 4998,
"cdna_start": 1120,
"cds_end": null,
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"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
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"feature": "ENST00000951296.1",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Pro292Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621355.1",
"strand": false,
"transcript": "ENST00000951296.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 374,
"aa_ref": "P",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3755,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1125,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000884356.1",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Pro298Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554415.1",
"strand": false,
"transcript": "ENST00000884356.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 246,
"aa_ref": "P",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 955,
"cdna_start": 680,
"cds_end": null,
"cds_length": 741,
"cds_start": 466,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000472417.1",
"gene_hgnc_id": 24042,
"gene_symbol": "WWTR1",
"hgvs_c": "c.466C>T",
"hgvs_p": "p.Pro156Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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