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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: 11-65376421-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65376421&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65376421,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000398802.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys",
"transcript": "NM_182556.4",
"protein_id": "NP_872362.4",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 288,
"cds_start": 853,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": "ENST00000398802.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys",
"transcript": "ENST00000398802.6",
"protein_id": "ENSP00000381782.1",
"transcript_support_level": 5,
"aa_start": 285,
"aa_end": null,
"aa_length": 288,
"cds_start": 853,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": "NM_182556.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.781C>T",
"hgvs_p": "p.Arg261Cys",
"transcript": "ENST00000534028.5",
"protein_id": "ENSP00000431769.1",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 264,
"cds_start": 781,
"cds_end": null,
"cds_length": 795,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 2432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.727C>T",
"hgvs_p": "p.Arg243Cys",
"transcript": "ENST00000294187.10",
"protein_id": "ENSP00000294187.6",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 246,
"cds_start": 727,
"cds_end": null,
"cds_length": 741,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Arg223Cys",
"transcript": "ENST00000526432.5",
"protein_id": "ENSP00000435547.1",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 226,
"cds_start": 667,
"cds_end": null,
"cds_length": 681,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys",
"transcript": "NM_001352381.2",
"protein_id": "NP_001339310.2",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 288,
"cds_start": 853,
"cds_end": null,
"cds_length": 867,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys",
"transcript": "ENST00000527174.5",
"protein_id": "ENSP00000435489.1",
"transcript_support_level": 3,
"aa_start": 285,
"aa_end": null,
"aa_length": 288,
"cds_start": 853,
"cds_end": null,
"cds_length": 867,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.781C>T",
"hgvs_p": "p.Arg261Cys",
"transcript": "NM_001278250.3",
"protein_id": "NP_001265179.3",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 264,
"cds_start": 781,
"cds_end": null,
"cds_length": 795,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.727C>T",
"hgvs_p": "p.Arg243Cys",
"transcript": "NM_001077241.3",
"protein_id": "NP_001070709.3",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 246,
"cds_start": 727,
"cds_end": null,
"cds_length": 741,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.727C>T",
"hgvs_p": "p.Arg243Cys",
"transcript": "NM_001278251.3",
"protein_id": "NP_001265180.3",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 246,
"cds_start": 727,
"cds_end": null,
"cds_length": 741,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 3091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.727C>T",
"hgvs_p": "p.Arg243Cys",
"transcript": "NM_001352382.2",
"protein_id": "NP_001339311.2",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 246,
"cds_start": 727,
"cds_end": null,
"cds_length": 741,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 2320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Arg223Cys",
"transcript": "NM_001300820.2",
"protein_id": "NP_001287749.2",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 226,
"cds_start": 667,
"cds_end": null,
"cds_length": 681,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Arg181Cys",
"transcript": "NM_001352383.2",
"protein_id": "NP_001339312.2",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 184,
"cds_start": 541,
"cds_end": null,
"cds_length": 555,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Arg181Cys",
"transcript": "NM_001352384.2",
"protein_id": "NP_001339313.2",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 184,
"cds_start": 541,
"cds_end": null,
"cds_length": 555,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "n.*907C>T",
"hgvs_p": null,
"transcript": "ENST00000526898.5",
"protein_id": "ENSP00000434582.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "n.5891C>T",
"hgvs_p": null,
"transcript": "ENST00000531791.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "n.1252C>T",
"hgvs_p": null,
"transcript": "NR_147972.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "n.1163C>T",
"hgvs_p": null,
"transcript": "NR_147973.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "n.*907C>T",
"hgvs_p": null,
"transcript": "ENST00000526898.5",
"protein_id": "ENSP00000434582.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "n.1348+115C>T",
"hgvs_p": null,
"transcript": "ENST00000534338.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD8",
"gene_hgnc_id": 25462,
"hgvs_c": "c.20+1084G>A",
"hgvs_p": null,
"transcript": "XM_047427683.1",
"protein_id": "XP_047283639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": -4,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD8",
"gene_hgnc_id": 25462,
"hgvs_c": "c.-97-3355G>A",
"hgvs_p": null,
"transcript": "XM_047427684.1",
"protein_id": "XP_047283640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": -4,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "n.*873C>T",
"hgvs_p": null,
"transcript": "ENST00000533629.5",
"protein_id": "ENSP00000431891.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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}
],
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"allele_count_reference_population": 48680,
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"computational_score_selected": 0.0027039945125579834,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.278,
"revel_prediction": "Benign",
"alphamissense_score": 0.2245,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.326,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000398802.6",
"gene_symbol": "SLC25A45",
"hgnc_id": 27442,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "XM_047427683.1",
"gene_symbol": "FRMD8",
"hgnc_id": 25462,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.20+1084G>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}