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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: 9-113169230-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=113169230&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 113169230,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015258.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.3479G>A",
"hgvs_p": "p.Arg1160His",
"transcript": "NM_015258.2",
"protein_id": "NP_056073.1",
"transcript_support_level": null,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3479,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000238256.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015258.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.3479G>A",
"hgvs_p": "p.Arg1160His",
"transcript": "ENST00000238256.8",
"protein_id": "ENSP00000238256.3",
"transcript_support_level": 1,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3479,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015258.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000238256.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.3479G>A",
"hgvs_p": "p.Arg1160His",
"transcript": "ENST00000446284.6",
"protein_id": "ENSP00000416158.2",
"transcript_support_level": 1,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3479,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446284.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.3461G>A",
"hgvs_p": "p.Arg1154His",
"transcript": "ENST00000693271.1",
"protein_id": "ENSP00000508580.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1256,
"cds_start": 3461,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693271.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.3449G>A",
"hgvs_p": "p.Arg1150His",
"transcript": "ENST00000852798.1",
"protein_id": "ENSP00000522857.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1209,
"cds_start": 3449,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852798.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.3431G>A",
"hgvs_p": "p.Arg1144His",
"transcript": "ENST00000687395.1",
"protein_id": "ENSP00000509797.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1203,
"cds_start": 3431,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687395.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.3404G>A",
"hgvs_p": "p.Arg1135His",
"transcript": "ENST00000947249.1",
"protein_id": "ENSP00000617308.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3404,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947249.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.3341G>A",
"hgvs_p": "p.Arg1114His",
"transcript": "ENST00000689059.1",
"protein_id": "ENSP00000508739.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3341,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689059.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.3332G>A",
"hgvs_p": "p.Arg1111His",
"transcript": "ENST00000937401.1",
"protein_id": "ENSP00000607460.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1170,
"cds_start": 3332,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937401.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.3305G>A",
"hgvs_p": "p.Arg1102His",
"transcript": "ENST00000852799.1",
"protein_id": "ENSP00000522858.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3305,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852799.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.3131G>A",
"hgvs_p": "p.Arg1044His",
"transcript": "ENST00000937400.1",
"protein_id": "ENSP00000607459.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1103,
"cds_start": 3131,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937400.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.3449G>A",
"hgvs_p": "p.Arg1150His",
"transcript": "XM_006717018.3",
"protein_id": "XP_006717081.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1209,
"cds_start": 3449,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717018.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.3275G>A",
"hgvs_p": "p.Arg1092His",
"transcript": "XM_006717019.2",
"protein_id": "XP_006717082.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3275,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717019.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "n.*1644G>A",
"hgvs_p": null,
"transcript": "ENST00000685068.1",
"protein_id": "ENSP00000510494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000685068.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "n.*3205G>A",
"hgvs_p": null,
"transcript": "ENST00000685945.1",
"protein_id": "ENSP00000510324.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000685945.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "n.*3950G>A",
"hgvs_p": null,
"transcript": "ENST00000686727.1",
"protein_id": "ENSP00000509868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000686727.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "n.*3254G>A",
"hgvs_p": null,
"transcript": "ENST00000688113.1",
"protein_id": "ENSP00000508769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000688113.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "n.*1664G>A",
"hgvs_p": null,
"transcript": "ENST00000688949.1",
"protein_id": "ENSP00000509717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000688949.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "n.6700G>A",
"hgvs_p": null,
"transcript": "ENST00000689480.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000689480.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "n.*4549G>A",
"hgvs_p": null,
"transcript": "ENST00000690399.1",
"protein_id": "ENSP00000508774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000690399.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "n.*3785G>A",
"hgvs_p": null,
"transcript": "ENST00000690630.1",
"protein_id": "ENSP00000509181.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000690630.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "n.*1826G>A",
"hgvs_p": null,
"transcript": "ENST00000691776.1",
"protein_id": "ENSP00000508685.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.401,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -4,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_015258.2",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}