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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: 4-533837-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=533837&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PIGG",
"hgnc_id": 25985,
"hgvs_c": "c.2591C>G",
"hgvs_p": "p.Ala864Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -10,
"transcript": "NM_001127178.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong",
"acmg_score": -10,
"allele_count_reference_population": 195,
"alphamissense_prediction": null,
"alphamissense_score": 0.115,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "4",
"clinvar_classification": "Likely benign",
"clinvar_disease": " autosomal recessive 53,Intellectual disability,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05342373251914978,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 983,
"aa_ref": "A",
"aa_start": 864,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 2717,
"cds_end": null,
"cds_length": 2952,
"cds_start": 2591,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001127178.3",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2591C>G",
"hgvs_p": "p.Ala864Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000453061.7",
"protein_coding": true,
"protein_id": "NP_001120650.1",
"strand": true,
"transcript": "NM_001127178.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 983,
"aa_ref": "A",
"aa_start": 864,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 2717,
"cds_end": null,
"cds_length": 2952,
"cds_start": 2591,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000453061.7",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2591C>G",
"hgvs_p": "p.Ala864Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001127178.3",
"protein_coding": true,
"protein_id": "ENSP00000415203.2",
"strand": true,
"transcript": "ENST00000453061.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 850,
"aa_ref": "A",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 2270,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2192,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000383028.8",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2192C>G",
"hgvs_p": "p.Ala731Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372494.4",
"strand": true,
"transcript": "ENST00000383028.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1394,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000508144.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "n.206C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000508144.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000513192.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "n.1724C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000513192.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3519,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000513239.5",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "n.2998C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000513239.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 975,
"aa_ref": "A",
"aa_start": 856,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3885,
"cdna_start": 2693,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2567,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_017733.5",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2567C>G",
"hgvs_p": "p.Ala856Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060203.3",
"strand": true,
"transcript": "NM_017733.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 975,
"aa_ref": "A",
"aa_start": 856,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": 2682,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2567,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000310340.9",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2567C>G",
"hgvs_p": "p.Ala856Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311750.5",
"strand": true,
"transcript": "ENST00000310340.9",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 913,
"aa_ref": "A",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2947,
"cdna_start": 2433,
"cds_end": null,
"cds_length": 2742,
"cds_start": 2381,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868086.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2381C>G",
"hgvs_p": "p.Ala794Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538145.1",
"strand": true,
"transcript": "ENST00000868086.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 912,
"aa_ref": "A",
"aa_start": 793,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2909,
"cdna_start": 2392,
"cds_end": null,
"cds_length": 2739,
"cds_start": 2378,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868087.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2378C>G",
"hgvs_p": "p.Ala793Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538146.1",
"strand": true,
"transcript": "ENST00000868087.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 894,
"aa_ref": "A",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": 2526,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2324,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001289051.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2324C>G",
"hgvs_p": "p.Ala775Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275980.1",
"strand": true,
"transcript": "NM_001289051.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 894,
"aa_ref": "A",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": 2953,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2324,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001345986.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2324C>G",
"hgvs_p": "p.Ala775Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332915.1",
"strand": true,
"transcript": "NM_001345986.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 894,
"aa_ref": "A",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 2499,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2324,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000504346.5",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2324C>G",
"hgvs_p": "p.Ala775Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424800.1",
"strand": true,
"transcript": "ENST00000504346.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 886,
"aa_ref": "A",
"aa_start": 767,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4121,
"cdna_start": 2929,
"cds_end": null,
"cds_length": 2661,
"cds_start": 2300,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001345987.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2300C>G",
"hgvs_p": "p.Ala767Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332916.1",
"strand": true,
"transcript": "NM_001345987.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 850,
"aa_ref": "A",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3510,
"cdna_start": 2318,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2192,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001289052.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2192C>G",
"hgvs_p": "p.Ala731Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275981.1",
"strand": true,
"transcript": "NM_001289052.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 664,
"aa_ref": "A",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1634,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000936869.1",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1634C>G",
"hgvs_p": "p.Ala545Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606928.1",
"strand": true,
"transcript": "ENST00000936869.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 640,
"aa_ref": "A",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4003,
"cdna_start": 2811,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1562,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001345988.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1562C>G",
"hgvs_p": "p.Ala521Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332917.1",
"strand": true,
"transcript": "NM_001345988.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 617,
"aa_ref": "A",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4259,
"cdna_start": 3067,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1493,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001345994.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1493C>G",
"hgvs_p": "p.Ala498Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332923.1",
"strand": true,
"transcript": "NM_001345994.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 472,
"aa_ref": "A",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4001,
"cdna_start": 2809,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001345990.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1058C>G",
"hgvs_p": "p.Ala353Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332919.1",
"strand": true,
"transcript": "NM_001345990.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 472,
"aa_ref": "A",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": 2907,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001345991.2",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.1058C>G",
"hgvs_p": "p.Ala353Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332920.1",
"strand": true,
"transcript": "NM_001345991.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 930,
"aa_ref": "A",
"aa_start": 864,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5655,
"cdna_start": 2717,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2591,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011513490.4",
"gene_hgnc_id": 25985,
"gene_symbol": "PIGG",
"hgvs_c": "c.2591C>G",
"hgvs_p": "p.Ala864Gly",
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