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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: 14-105241292-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=105241292&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "BRF1",
"hgnc_id": 11551,
"hgvs_c": "c.667C>A",
"hgvs_p": "p.Arg223Arg",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001519.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.39100000262260437,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3671,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 2034,
"cds_start": 667,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001519.4",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.667C>A",
"hgvs_p": "p.Arg223Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000547530.7",
"protein_coding": true,
"protein_id": "NP_001510.2",
"strand": false,
"transcript": "NM_001519.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3671,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 2034,
"cds_start": 667,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000547530.7",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.667C>A",
"hgvs_p": "p.Arg223Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001519.4",
"protein_coding": true,
"protein_id": "ENSP00000448387.2",
"strand": false,
"transcript": "ENST00000547530.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 650,
"aa_ref": "R",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3314,
"cdna_start": 682,
"cds_end": null,
"cds_length": 1953,
"cds_start": 586,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000379937.6",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.586C>A",
"hgvs_p": "p.Arg196Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369269.2",
"strand": false,
"transcript": "ENST00000379937.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3579,
"cdna_start": 947,
"cds_end": null,
"cds_length": 1422,
"cds_start": 55,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000392557.8",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.55C>A",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376340.4",
"strand": false,
"transcript": "ENST00000392557.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 161,
"aa_ref": "R",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 824,
"cdna_start": 246,
"cds_end": null,
"cds_length": 486,
"cds_start": 55,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000551787.5",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.55C>A",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446901.1",
"strand": false,
"transcript": "ENST00000551787.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 717,
"aa_ref": "R",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3801,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 2154,
"cds_start": 667,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000910241.1",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.667C>A",
"hgvs_p": "p.Arg223Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580300.1",
"strand": false,
"transcript": "ENST00000910241.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 713,
"aa_ref": "R",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3689,
"cdna_start": 876,
"cds_end": null,
"cds_length": 2142,
"cds_start": 586,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000910245.1",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.586C>A",
"hgvs_p": "p.Arg196Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580304.1",
"strand": false,
"transcript": "ENST00000910245.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 698,
"aa_ref": "R",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4018,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 2097,
"cds_start": 667,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000910239.1",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.667C>A",
"hgvs_p": "p.Arg223Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580298.1",
"strand": false,
"transcript": "ENST00000910239.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 676,
"aa_ref": "R",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3668,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 2031,
"cds_start": 667,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001440449.1",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.667C>A",
"hgvs_p": "p.Arg223Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427378.1",
"strand": false,
"transcript": "NM_001440449.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 676,
"aa_ref": "R",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3957,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 2031,
"cds_start": 667,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000910238.1",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.667C>A",
"hgvs_p": "p.Arg223Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580297.1",
"strand": false,
"transcript": "ENST00000910238.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 675,
"aa_ref": "R",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3669,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 2028,
"cds_start": 667,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000910242.1",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.667C>A",
"hgvs_p": "p.Arg223Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580301.1",
"strand": false,
"transcript": "ENST00000910242.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 650,
"aa_ref": "R",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3590,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1953,
"cds_start": 586,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001242788.2",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.586C>A",
"hgvs_p": "p.Arg196Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229717.1",
"strand": false,
"transcript": "NM_001242788.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 649,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3867,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 1950,
"cds_start": 586,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000910240.1",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.586C>A",
"hgvs_p": "p.Arg196Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580299.1",
"strand": false,
"transcript": "ENST00000910240.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 584,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3449,
"cdna_start": 751,
"cds_end": null,
"cds_length": 1755,
"cds_start": 322,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001242786.2",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.322C>A",
"hgvs_p": "p.Arg108Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229715.1",
"strand": false,
"transcript": "NM_001242786.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 751,
"cds_end": null,
"cds_length": 1755,
"cds_start": 322,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000440513.7",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.322C>A",
"hgvs_p": "p.Arg108Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388877.3",
"strand": false,
"transcript": "ENST00000440513.7",
"transcript_support_level": 2
},
{
"aa_alt": "R",
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"aa_length": 562,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3383,
"cdna_start": 751,
"cds_end": null,
"cds_length": 1689,
"cds_start": 322,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001242787.2",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.322C>A",
"hgvs_p": "p.Arg108Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229716.1",
"strand": false,
"transcript": "NM_001242787.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 562,
"aa_ref": "R",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 652,
"cds_end": null,
"cds_length": 1689,
"cds_start": 322,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000327359.7",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.322C>A",
"hgvs_p": "p.Arg108Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000329029.3",
"strand": false,
"transcript": "ENST00000327359.7",
"transcript_support_level": 2
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1039,
"cds_end": null,
"cds_length": 1680,
"cds_start": 667,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000910244.1",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.667C>A",
"hgvs_p": "p.Arg223Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580303.1",
"strand": false,
"transcript": "ENST00000910244.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1311,
"cds_end": null,
"cds_length": 1521,
"cds_start": 154,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001440452.1",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.154C>A",
"hgvs_p": "p.Arg52Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427381.1",
"strand": false,
"transcript": "NM_001440452.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3940,
"cdna_start": 1311,
"cds_end": null,
"cds_length": 1518,
"cds_start": 154,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001440453.1",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.154C>A",
"hgvs_p": "p.Arg52Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427382.1",
"strand": false,
"transcript": "NM_001440453.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3579,
"cdna_start": 947,
"cds_end": null,
"cds_length": 1422,
"cds_start": 55,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_145685.3",
"gene_hgnc_id": 11551,
"gene_symbol": "BRF1",
"hgvs_c": "c.55C>A",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_663718.1",
"strand": false,
"transcript": "NM_145685.3",
"transcript_support_level": null
},
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