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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: 1-157767498-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=157767498&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FCRL2",
"hgnc_id": 14875,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_030764.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 15,
"alphamissense_prediction": null,
"alphamissense_score": 0.1029,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"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": 0.1598343551158905,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2589,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1527,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_030764.4",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361516.8",
"protein_coding": true,
"protein_id": "NP_110391.2",
"strand": false,
"transcript": "NM_030764.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2589,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1527,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000361516.8",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030764.4",
"protein_coding": true,
"protein_id": "ENSP00000355157.3",
"strand": false,
"transcript": "ENST00000361516.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 192,
"aa_ref": "R",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 902,
"cdna_start": 277,
"cds_end": null,
"cds_length": 579,
"cds_start": 136,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000469986.1",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417393.1",
"strand": false,
"transcript": "ENST00000469986.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 202,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": null,
"cds_end": null,
"cds_length": 609,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000368181.4",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "c.311-527C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357163.4",
"strand": false,
"transcript": "ENST00000368181.4",
"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": 4448,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000368178.3",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "n.2813C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000368178.3",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 444,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1335,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001159488.2",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001152960.1",
"strand": false,
"transcript": "NM_001159488.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 413,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1242,
"cds_start": 610,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000864375.1",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Arg204Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534434.1",
"strand": false,
"transcript": "ENST00000864375.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1572,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017002316.2",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857805.1",
"strand": false,
"transcript": "XM_017002316.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 513,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2615,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1542,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011509974.4",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508276.1",
"strand": false,
"transcript": "XM_011509974.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1476,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011509975.4",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508277.1",
"strand": false,
"transcript": "XM_011509975.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 486,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2523,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1461,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011509976.3",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508278.1",
"strand": false,
"transcript": "XM_011509976.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 428,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2275,
"cdna_start": 669,
"cds_end": null,
"cds_length": 1287,
"cds_start": 610,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017002319.2",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Arg204Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857808.1",
"strand": false,
"transcript": "XM_017002319.2",
"transcript_support_level": null
},
{
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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": 669,
"cds_end": null,
"cds_length": 1242,
"cds_start": 610,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
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"feature": "XM_047430273.1",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Arg204Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286229.1",
"strand": false,
"transcript": "XM_047430273.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 442,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": null,
"cds_end": null,
"cds_length": 1329,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957326.1",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "c.884-187C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627385.1",
"strand": false,
"transcript": "ENST00000957326.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2362,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017002317.2",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "c.884-187C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857806.1",
"strand": false,
"transcript": "XM_017002317.2",
"transcript_support_level": null
},
{
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"aa_length": 430,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2281,
"cdna_start": null,
"cds_end": null,
"cds_length": 1293,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017002318.2",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "c.884-527C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857807.1",
"strand": false,
"transcript": "XM_017002318.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 415,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": null,
"cds_end": null,
"cds_length": 1248,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430270.1",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "c.884-527C>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047286226.1",
"strand": false,
"transcript": "XM_047430270.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2025,
"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430275.1",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "c.599-527C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286231.1",
"strand": false,
"transcript": "XM_047430275.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1031,
"cdna_start": null,
"cds_end": null,
"cds_length": 942,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006711535.4",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "c.884-20C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711598.1",
"strand": false,
"transcript": "XM_006711535.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1166,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XR_001737403.2",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "n.1097C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001737403.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1671,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_125358.2",
"gene_hgnc_id": 14875,
"gene_symbol": "FCRL2",
"hgvs_c": "n.370-527C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_125358.2",
"transcript_support_level": null
},
{
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],
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]
}