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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: 1-177929905-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=177929905&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SEC16B",
"hgnc_id": 30301,
"hgvs_c": "c.3142C>T",
"hgvs_p": "p.Arg1048Trp",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001390834.1",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CRYZL2P-SEC16B",
"hgnc_id": 53757,
"hgvs_c": "c.3139C>T",
"hgvs_p": "p.Arg1047Trp",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001356505.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 60,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1268,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"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": 0.2780348062515259,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1060,
"aa_ref": "R",
"aa_start": 1046,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4486,
"cdna_start": 3369,
"cds_end": null,
"cds_length": 3183,
"cds_start": 3136,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_033127.4",
"gene_hgnc_id": 30301,
"gene_symbol": "SEC16B",
"hgvs_c": "c.3136C>T",
"hgvs_p": "p.Arg1046Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000308284.11",
"protein_coding": true,
"protein_id": "NP_149118.2",
"strand": false,
"transcript": "NM_033127.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1060,
"aa_ref": "R",
"aa_start": 1046,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4486,
"cdna_start": 3369,
"cds_end": null,
"cds_length": 3183,
"cds_start": 3136,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000308284.11",
"gene_hgnc_id": 30301,
"gene_symbol": "SEC16B",
"hgvs_c": "c.3136C>T",
"hgvs_p": "p.Arg1046Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033127.4",
"protein_coding": true,
"protein_id": "ENSP00000308339.6",
"strand": false,
"transcript": "ENST00000308284.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3277,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000528461.5",
"gene_hgnc_id": 30301,
"gene_symbol": "SEC16B",
"hgvs_c": "n.*2123C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000475522.1",
"strand": false,
"transcript": "ENST00000528461.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3277,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000528461.5",
"gene_hgnc_id": 30301,
"gene_symbol": "SEC16B",
"hgvs_c": "n.*2123C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000475522.1",
"strand": false,
"transcript": "ENST00000528461.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "R",
"aa_start": 1079,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4520,
"cdna_start": 3406,
"cds_end": null,
"cds_length": 3282,
"cds_start": 3235,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000870565.1",
"gene_hgnc_id": 30301,
"gene_symbol": "SEC16B",
"hgvs_c": "c.3235C>T",
"hgvs_p": "p.Arg1079Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540624.1",
"strand": false,
"transcript": "ENST00000870565.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1092,
"aa_ref": "R",
"aa_start": 1078,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4571,
"cdna_start": 3457,
"cds_end": null,
"cds_length": 3279,
"cds_start": 3232,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000870557.1",
"gene_hgnc_id": 30301,
"gene_symbol": "SEC16B",
"hgvs_c": "c.3232C>T",
"hgvs_p": "p.Arg1078Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540616.1",
"strand": false,
"transcript": "ENST00000870557.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1092,
"aa_ref": "R",
"aa_start": 1078,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4526,
"cdna_start": 3412,
"cds_end": null,
"cds_length": 3279,
"cds_start": 3232,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000870559.1",
"gene_hgnc_id": 30301,
"gene_symbol": "SEC16B",
"hgvs_c": "c.3232C>T",
"hgvs_p": "p.Arg1078Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540618.1",
"strand": false,
"transcript": "ENST00000870559.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "R",
"aa_start": 1077,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4515,
"cdna_start": 3401,
"cds_end": null,
"cds_length": 3276,
"cds_start": 3229,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000870560.1",
"gene_hgnc_id": 30301,
"gene_symbol": "SEC16B",
"hgvs_c": "c.3229C>T",
"hgvs_p": "p.Arg1077Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540619.1",
"strand": false,
"transcript": "ENST00000870560.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1062,
"aa_ref": "R",
"aa_start": 1048,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4492,
"cdna_start": 3375,
"cds_end": null,
"cds_length": 3189,
"cds_start": 3142,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001390834.1",
"gene_hgnc_id": 30301,
"gene_symbol": "SEC16B",
"hgvs_c": "c.3142C>T",
"hgvs_p": "p.Arg1048Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001377763.1",
"strand": false,
"transcript": "NM_001390834.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1062,
"aa_ref": "R",
"aa_start": 1048,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4396,
"cdna_start": 3279,
"cds_end": null,
"cds_length": 3189,
"cds_start": 3142,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001390835.1",
"gene_hgnc_id": 30301,
"gene_symbol": "SEC16B",
"hgvs_c": "c.3142C>T",
"hgvs_p": "p.Arg1048Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001377764.1",
"strand": false,
"transcript": "NM_001390835.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1062,
"aa_ref": "R",
"aa_start": 1048,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4377,
"cdna_start": 3260,
"cds_end": null,
"cds_length": 3189,
"cds_start": 3142,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000870546.1",
"gene_hgnc_id": 30301,
"gene_symbol": "SEC16B",
"hgvs_c": "c.3142C>T",
"hgvs_p": "p.Arg1048Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540605.1",
"strand": false,
"transcript": "ENST00000870546.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1062,
"aa_ref": "R",
"aa_start": 1048,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4521,
"cdna_start": 3407,
"cds_end": null,
"cds_length": 3189,
"cds_start": 3142,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000870554.1",
"gene_hgnc_id": 30301,
"gene_symbol": "SEC16B",
"hgvs_c": "c.3142C>T",
"hgvs_p": "p.Arg1048Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540613.1",
"strand": false,
"transcript": "ENST00000870554.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1062,
"aa_ref": "R",
"aa_start": 1048,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4489,
"cdna_start": 3375,
"cds_end": null,
"cds_length": 3189,
"cds_start": 3142,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000870556.1",
"gene_hgnc_id": 30301,
"gene_symbol": "SEC16B",
"hgvs_c": "c.3142C>T",
"hgvs_p": "p.Arg1048Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540615.1",
"strand": false,
"transcript": "ENST00000870556.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1062,
"aa_ref": "R",
"aa_start": 1048,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4416,
"cdna_start": 3302,
"cds_end": null,
"cds_length": 3189,
"cds_start": 3142,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000870558.1",
"gene_hgnc_id": 30301,
"gene_symbol": "SEC16B",
"hgvs_c": "c.3142C>T",
"hgvs_p": "p.Arg1048Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540617.1",
"strand": false,
"transcript": "ENST00000870558.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1062,
"aa_ref": "R",
"aa_start": 1048,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4718,
"cdna_start": 3604,
"cds_end": null,
"cds_length": 3189,
"cds_start": 3142,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000870561.1",
"gene_hgnc_id": 30301,
"gene_symbol": "SEC16B",
"hgvs_c": "c.3142C>T",
"hgvs_p": "p.Arg1048Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540620.1",
"strand": false,
"transcript": "ENST00000870561.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1062,
"aa_ref": "R",
"aa_start": 1048,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4449,
"cdna_start": 3335,
"cds_end": null,
"cds_length": 3189,
"cds_start": 3142,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000870566.1",
"gene_hgnc_id": 30301,
"gene_symbol": "SEC16B",
"hgvs_c": "c.3142C>T",
"hgvs_p": "p.Arg1048Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540625.1",
"strand": false,
"transcript": "ENST00000870566.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1061,
"aa_ref": "R",
"aa_start": 1047,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5271,
"cdna_start": 4154,
"cds_end": null,
"cds_length": 3186,
"cds_start": 3139,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_001356505.2",
"gene_hgnc_id": 53757,
"gene_symbol": "CRYZL2P-SEC16B",
"hgvs_c": "c.3139C>T",
"hgvs_p": "p.Arg1047Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001343434.1",
"strand": false,
"transcript": "NM_001356505.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1061,
"aa_ref": "R",
"aa_start": 1047,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4935,
"cdna_start": 3818,
"cds_end": null,
"cds_length": 3186,
"cds_start": 3139,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_001356506.2",
"gene_hgnc_id": 53757,
"gene_symbol": "CRYZL2P-SEC16B",
"hgvs_c": "c.3139C>T",
"hgvs_p": "p.Arg1047Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001343435.1",
"strand": false,
"transcript": "NM_001356506.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1061,
"aa_ref": "R",
"aa_start": 1047,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5707,
"cdna_start": 3370,
"cds_end": null,
"cds_length": 3186,
"cds_start": 3139,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000870548.1",
"gene_hgnc_id": 30301,
"gene_symbol": "SEC16B",
"hgvs_c": "c.3139C>T",
"hgvs_p": "p.Arg1047Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540607.1",
"strand": false,
"transcript": "ENST00000870548.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1061,
"aa_ref": "R",
"aa_start": 1047,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5709,
"cdna_start": 3372,
"cds_end": null,
"cds_length": 3186,
"cds_start": 3139,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000870549.1",
"gene_hgnc_id": 30301,
"gene_symbol": "SEC16B",
"hgvs_c": "c.3139C>T",
"hgvs_p": "p.Arg1047Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540608.1",
"strand": false,
"transcript": "ENST00000870549.1",
"transcript_support_level": null
},
{
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