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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: 12-51063810-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51063810&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CSRNP2",
"hgnc_id": 16006,
"hgvs_c": "c.1568C>A",
"hgvs_p": "p.Thr523Asn",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_030809.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LETMD1",
"hgnc_id": 24241,
"hgvs_c": "c.544-3452G>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001351337.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.069,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"chr": "12",
"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": 0.033316582441329956,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4517,
"cdna_start": 1912,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_030809.3",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1568C>A",
"hgvs_p": "p.Thr523Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000228515.6",
"protein_coding": true,
"protein_id": "NP_110436.1",
"strand": false,
"transcript": "NM_030809.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4517,
"cdna_start": 1912,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000228515.6",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1568C>A",
"hgvs_p": "p.Thr523Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030809.3",
"protein_coding": true,
"protein_id": "ENSP00000228515.1",
"strand": false,
"transcript": "ENST00000228515.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4622,
"cdna_start": 2029,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000863897.1",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1568C>A",
"hgvs_p": "p.Thr523Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533956.1",
"strand": false,
"transcript": "ENST00000863897.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4696,
"cdna_start": 2091,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000863898.1",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1568C>A",
"hgvs_p": "p.Thr523Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533957.1",
"strand": false,
"transcript": "ENST00000863898.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4640,
"cdna_start": 2038,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000863899.1",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1568C>A",
"hgvs_p": "p.Thr523Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533958.1",
"strand": false,
"transcript": "ENST00000863899.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4798,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000863900.1",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1568C>A",
"hgvs_p": "p.Thr523Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533959.1",
"strand": false,
"transcript": "ENST00000863900.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5335,
"cdna_start": 2730,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000927000.1",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1568C>A",
"hgvs_p": "p.Thr523Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597059.1",
"strand": false,
"transcript": "ENST00000927000.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4382,
"cdna_start": 1780,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000927002.1",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1568C>A",
"hgvs_p": "p.Thr523Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597061.1",
"strand": false,
"transcript": "ENST00000927002.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5833,
"cdna_start": 3231,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000927003.1",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1568C>A",
"hgvs_p": "p.Thr523Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597062.1",
"strand": false,
"transcript": "ENST00000927003.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 476,
"aa_ref": "T",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4254,
"cdna_start": 1649,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000863901.1",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1367C>A",
"hgvs_p": "p.Thr456Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533960.1",
"strand": false,
"transcript": "ENST00000863901.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 476,
"aa_ref": "T",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7145,
"cdna_start": 4543,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000863902.1",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1367C>A",
"hgvs_p": "p.Thr456Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533961.1",
"strand": false,
"transcript": "ENST00000863902.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 471,
"aa_ref": "T",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4247,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000927001.1",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1352C>A",
"hgvs_p": "p.Thr451Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597060.1",
"strand": false,
"transcript": "ENST00000927001.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 444,
"aa_ref": "T",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4083,
"cdna_start": 1485,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1271,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000956406.1",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1271C>A",
"hgvs_p": "p.Thr424Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626465.1",
"strand": false,
"transcript": "ENST00000956406.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5335,
"cdna_start": 2730,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024449210.2",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1568C>A",
"hgvs_p": "p.Thr523Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304978.1",
"strand": false,
"transcript": "XM_024449210.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5675,
"cdna_start": 3070,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024449211.2",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1568C>A",
"hgvs_p": "p.Thr523Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304979.1",
"strand": false,
"transcript": "XM_024449211.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7178,
"cdna_start": 4573,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024449212.2",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1568C>A",
"hgvs_p": "p.Thr523Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304980.1",
"strand": false,
"transcript": "XM_024449212.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4801,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024449213.2",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1568C>A",
"hgvs_p": "p.Thr523Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304981.1",
"strand": false,
"transcript": "XM_024449213.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4691,
"cdna_start": 2086,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024449214.2",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1568C>A",
"hgvs_p": "p.Thr523Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304982.1",
"strand": false,
"transcript": "XM_024449214.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4760,
"cdna_start": 2155,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_024449215.2",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1568C>A",
"hgvs_p": "p.Thr523Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304983.1",
"strand": false,
"transcript": "XM_024449215.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4586,
"cdna_start": 1981,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024449216.2",
"gene_hgnc_id": 16006,
"gene_symbol": "CSRNP2",
"hgvs_c": "c.1568C>A",
"hgvs_p": "p.Thr523Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304984.1",
"strand": false,
"transcript": "XM_024449216.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
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