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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: 1-155256413-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155256413&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SCAMP3",
"hgnc_id": 10565,
"hgvs_c": "c.904T>G",
"hgvs_p": "p.Ser302Ala",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_005698.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000303088",
"hgnc_id": null,
"hgvs_c": "n.261+1605A>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000791655.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1187,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"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": "Benign",
"computational_score_selected": 0.28713685274124146,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 347,
"aa_ref": "S",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1545,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 1044,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_005698.4",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.904T>G",
"hgvs_p": "p.Ser302Ala",
"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": "A",
"aa_end": null,
"aa_length": 347,
"aa_ref": "S",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1545,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 1044,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000302631.8",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.904T>G",
"hgvs_p": "p.Ser302Ala",
"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": "A",
"aa_end": null,
"aa_length": 321,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1537,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 966,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000355379.3",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.826T>G",
"hgvs_p": "p.Ser276Ala",
"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": "A",
"aa_end": null,
"aa_length": 353,
"aa_ref": "S",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1062,
"cds_start": 922,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000880568.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.922T>G",
"hgvs_p": "p.Ser308Ala",
"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": "A",
"aa_end": null,
"aa_length": 350,
"aa_ref": "S",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1456,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 1053,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000880571.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.913T>G",
"hgvs_p": "p.Ser305Ala",
"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": "A",
"aa_end": null,
"aa_length": 342,
"aa_ref": "S",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1430,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1029,
"cds_start": 889,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000929053.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.889T>G",
"hgvs_p": "p.Ser297Ala",
"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": "A",
"aa_end": null,
"aa_length": 339,
"aa_ref": "S",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 1020,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000929051.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.880T>G",
"hgvs_p": "p.Ser294Ala",
"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": "A",
"aa_end": null,
"aa_length": 333,
"aa_ref": "S",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1503,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1002,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001438464.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.862T>G",
"hgvs_p": "p.Ser288Ala",
"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": "A",
"aa_end": null,
"aa_length": 333,
"aa_ref": "S",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1408,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1002,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000714216.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.862T>G",
"hgvs_p": "p.Ser288Ala",
"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": "A",
"aa_end": null,
"aa_length": 325,
"aa_ref": "S",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1416,
"cdna_start": 984,
"cds_end": null,
"cds_length": 978,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000880569.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.838T>G",
"hgvs_p": "p.Ser280Ala",
"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": "A",
"aa_end": null,
"aa_length": 324,
"aa_ref": "S",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1476,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 975,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000929050.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.835T>G",
"hgvs_p": "p.Ser279Ala",
"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": "A",
"aa_end": null,
"aa_length": 321,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1467,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 966,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_052837.3",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.826T>G",
"hgvs_p": "p.Ser276Ala",
"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": "A",
"aa_end": null,
"aa_length": 307,
"aa_ref": "S",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1425,
"cdna_start": 993,
"cds_end": null,
"cds_length": 924,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001438467.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.784T>G",
"hgvs_p": "p.Ser262Ala",
"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": "A",
"aa_end": null,
"aa_length": 307,
"aa_ref": "S",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1325,
"cdna_start": 899,
"cds_end": null,
"cds_length": 924,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000714220.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.784T>G",
"hgvs_p": "p.Ser262Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519503.1",
"strand": false,
"transcript": "ENST00000714220.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 306,
"aa_ref": "S",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1422,
"cdna_start": 990,
"cds_end": null,
"cds_length": 921,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001438468.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.781T>G",
"hgvs_p": "p.Ser261Ala",
"intron_rank": null,
"intron_rank_end": null,
"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": "A",
"aa_end": null,
"aa_length": 306,
"aa_ref": "S",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1448,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 921,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880564.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.781T>G",
"hgvs_p": "p.Ser261Ala",
"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": "A",
"aa_end": null,
"aa_length": 300,
"aa_ref": "S",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 1252,
"cds_end": null,
"cds_length": 903,
"cds_start": 763,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000714213.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.763T>G",
"hgvs_p": "p.Ser255Ala",
"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": "A",
"aa_end": null,
"aa_length": 299,
"aa_ref": "S",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1403,
"cdna_start": 969,
"cds_end": null,
"cds_length": 900,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880567.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Ser254Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550626.1",
"strand": false,
"transcript": "ENST00000880567.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 292,
"aa_ref": "S",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1267,
"cdna_start": 834,
"cds_end": null,
"cds_length": 879,
"cds_start": 739,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880572.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.739T>G",
"hgvs_p": "p.Ser247Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550631.1",
"strand": false,
"transcript": "ENST00000880572.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 286,
"aa_ref": "S",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1247,
"cdna_start": 816,
"cds_end": null,
"cds_length": 861,
"cds_start": 721,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000945654.1",
"gene_hgnc_id": 10565,
"gene_symbol": "SCAMP3",
"hgvs_c": "c.721T>G",
"hgvs_p": "p.Ser241Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615713.1",
"strand": false,
"transcript": "ENST00000945654.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 280,
"aa_ref": "S",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1344,
"cdna_start": 912,
"cds_end": null,
"cds_length": 843,
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]
}