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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: 1-155256774-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155256774&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SCAMP3",
"hgnc_id": 10565,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Leu266Pro",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_005698.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000303088",
"hgnc_id": null,
"hgvs_c": "n.261+1966A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000791655.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.7534,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.15,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9608556628227234,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 347,
"aa_ref": "L",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1545,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1044,
"cds_start": 797,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_005698.4",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Leu266Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000302631.8",
"protein_coding": true,
"protein_id": "NP_005689.2",
"strand": false,
"transcript": "NM_005698.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 347,
"aa_ref": "L",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1545,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1044,
"cds_start": 797,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000302631.8",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Leu266Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005698.4",
"protein_coding": true,
"protein_id": "ENSP00000307275.3",
"strand": false,
"transcript": "ENST00000302631.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 321,
"aa_ref": "L",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1537,
"cdna_start": 998,
"cds_end": null,
"cds_length": 966,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000355379.3",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.719T>C",
"hgvs_p": "p.Leu240Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347540.3",
"strand": false,
"transcript": "ENST00000355379.3",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 353,
"aa_ref": "L",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 964,
"cds_end": null,
"cds_length": 1062,
"cds_start": 797,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880568.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Leu266Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550627.1",
"strand": false,
"transcript": "ENST00000880568.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 350,
"aa_ref": "L",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1456,
"cdna_start": 925,
"cds_end": null,
"cds_length": 1053,
"cds_start": 806,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880571.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.806T>C",
"hgvs_p": "p.Leu269Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550630.1",
"strand": false,
"transcript": "ENST00000880571.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 342,
"aa_ref": "L",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1430,
"cdna_start": 907,
"cds_end": null,
"cds_length": 1029,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000929053.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.782T>C",
"hgvs_p": "p.Leu261Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599112.1",
"strand": false,
"transcript": "ENST00000929053.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 339,
"aa_ref": "L",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": 948,
"cds_end": null,
"cds_length": 1020,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000929051.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.755T>C",
"hgvs_p": "p.Leu252Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599110.1",
"strand": false,
"transcript": "ENST00000929051.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 333,
"aa_ref": "L",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1503,
"cdna_start": 964,
"cds_end": null,
"cds_length": 1002,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001438464.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.755T>C",
"hgvs_p": "p.Leu252Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425393.1",
"strand": false,
"transcript": "NM_001438464.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 333,
"aa_ref": "L",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1408,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1002,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000714216.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.755T>C",
"hgvs_p": "p.Leu252Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519499.1",
"strand": false,
"transcript": "ENST00000714216.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 325,
"aa_ref": "L",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1416,
"cdna_start": 877,
"cds_end": null,
"cds_length": 978,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880569.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Leu244Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550628.1",
"strand": false,
"transcript": "ENST00000880569.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 324,
"aa_ref": "L",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1476,
"cdna_start": 937,
"cds_end": null,
"cds_length": 975,
"cds_start": 728,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000929050.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.728T>C",
"hgvs_p": "p.Leu243Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599109.1",
"strand": false,
"transcript": "ENST00000929050.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 321,
"aa_ref": "L",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1467,
"cdna_start": 928,
"cds_end": null,
"cds_length": 966,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_052837.3",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.719T>C",
"hgvs_p": "p.Leu240Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_443069.1",
"strand": false,
"transcript": "NM_052837.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 310,
"aa_ref": "L",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 933,
"cds_start": 797,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001438465.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Leu266Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425394.1",
"strand": false,
"transcript": "NM_001438465.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 310,
"aa_ref": "L",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1706,
"cdna_start": 914,
"cds_end": null,
"cds_length": 933,
"cds_start": 797,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000714218.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Leu266Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519501.1",
"strand": false,
"transcript": "ENST00000714218.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 309,
"aa_ref": "L",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1577,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 930,
"cds_start": 797,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001438466.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Leu266Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425395.1",
"strand": false,
"transcript": "NM_001438466.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 307,
"aa_ref": "L",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1425,
"cdna_start": 886,
"cds_end": null,
"cds_length": 924,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001438467.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.677T>C",
"hgvs_p": "p.Leu226Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425396.1",
"strand": false,
"transcript": "NM_001438467.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 307,
"aa_ref": "L",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1325,
"cdna_start": 792,
"cds_end": null,
"cds_length": 924,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000714220.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.677T>C",
"hgvs_p": "p.Leu226Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519503.1",
"strand": false,
"transcript": "ENST00000714220.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 306,
"aa_ref": "L",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1422,
"cdna_start": 883,
"cds_end": null,
"cds_length": 921,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001438468.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.674T>C",
"hgvs_p": "p.Leu225Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425397.1",
"strand": false,
"transcript": "NM_001438468.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "L",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1448,
"cdna_start": 907,
"cds_end": null,
"cds_length": 921,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000880564.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.674T>C",
"hgvs_p": "p.Leu225Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550623.1",
"strand": false,
"transcript": "ENST00000880564.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 300,
"aa_ref": "L",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 903,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000714213.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.656T>C",
"hgvs_p": "p.Leu219Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519495.1",
"strand": false,
"transcript": "ENST00000714213.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 299,
"aa_ref": "L",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1403,
"cdna_start": 862,
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]
}