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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: 5-43644616-TACTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=43644616&ref=TACTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 43644616,
"ref": "TACTC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000344920.9",
"consequences": [
{
"aa_ref": "TH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1107_1110delTCAC",
"hgvs_p": "p.His370fs",
"transcript": "NM_182977.3",
"protein_id": "NP_892022.2",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1107,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 6421,
"mane_select": "ENST00000344920.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TH",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1107_1110delTCAC",
"hgvs_p": "p.His370fs",
"transcript": "ENST00000344920.9",
"protein_id": "ENSP00000343873.4",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1107,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 6421,
"mane_select": "NM_182977.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1107_1110delTCAC",
"hgvs_p": "p.His370fs",
"transcript": "ENST00000264663.9",
"protein_id": "ENSP00000264663.5",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1107,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 6483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1107_1110delTCAC",
"hgvs_p": "p.His370fs",
"transcript": "NM_012343.4",
"protein_id": "NP_036475.3",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1107,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 6522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1107_1110delTCAC",
"hgvs_p": "p.His370fs",
"transcript": "ENST00000653251.1",
"protein_id": "ENSP00000499281.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1107,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 4046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1107_1110delTCAC",
"hgvs_p": "p.His370fs",
"transcript": "ENST00000656666.1",
"protein_id": "ENSP00000499249.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1107,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1107_1110delTCAC",
"hgvs_p": "p.His370fs",
"transcript": "ENST00000662525.1",
"protein_id": "ENSP00000499639.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1107,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1107_1110delTCAC",
"hgvs_p": "p.His370fs",
"transcript": "ENST00000669601.1",
"protein_id": "ENSP00000499527.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1107,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1107_1110delTCAC",
"hgvs_p": "p.His370fs",
"transcript": "ENST00000670904.1",
"protein_id": "ENSP00000499611.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1107,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1107_1110delTCAC",
"hgvs_p": "p.His370fs",
"transcript": "ENST00000671668.1",
"protein_id": "ENSP00000499494.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1107,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.930_933delTCAC",
"hgvs_p": "p.His311fs",
"transcript": "ENST00000654405.1",
"protein_id": "ENSP00000499670.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1027,
"cds_start": 930,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 4331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TH",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.714_717delTCAC",
"hgvs_p": "p.His239fs",
"transcript": "NM_001331026.2",
"protein_id": "NP_001317955.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 955,
"cds_start": 714,
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"cds_length": 2868,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 6191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TH",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.714_717delTCAC",
"hgvs_p": "p.His239fs",
"transcript": "ENST00000512996.6",
"protein_id": "ENSP00000426343.1",
"transcript_support_level": 5,
"aa_start": 238,
"aa_end": null,
"aa_length": 955,
"cds_start": 714,
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"cdna_start": 1052,
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"cdna_length": 4288,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.714_717delTCAC",
"hgvs_p": "p.His239fs",
"transcript": "ENST00000657172.1",
"protein_id": "ENSP00000499431.1",
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"aa_start": 238,
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"cds_start": 714,
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"cdna_start": 1603,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1107_1110delTCAC",
"hgvs_p": "p.His370fs",
"transcript": "ENST00000660752.1",
"protein_id": "ENSP00000499701.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 521,
"cds_start": 1107,
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"cds_length": 1566,
"cdna_start": 1292,
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"cdna_length": 3582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1107_1110delTCAC",
"hgvs_p": "p.His370fs",
"transcript": "XM_005248274.6",
"protein_id": "XP_005248331.1",
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"cdna_start": 1239,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1107_1110delTCAC",
"hgvs_p": "p.His370fs",
"transcript": "XM_011514001.4",
"protein_id": "XP_011512303.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
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"cds_start": 1107,
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"cdna_start": 2651,
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"cdna_length": 7797,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.1107_1110delTCAC",
"hgvs_p": "p.His370fs",
"transcript": "XM_017009293.3",
"protein_id": "XP_016864782.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1107,
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"cdna_start": 1235,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "c.714_717delTCAC",
"hgvs_p": "p.His239fs",
"transcript": "XM_006714461.5",
"protein_id": "XP_006714524.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "n.477_480delTCAC",
"hgvs_p": null,
"transcript": "ENST00000503651.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "n.*413_*416delTCAC",
"hgvs_p": null,
"transcript": "ENST00000652986.1",
"protein_id": "ENSP00000499801.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 4502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"hgvs_c": "n.*969_*972delTCAC",
"hgvs_p": null,
"transcript": "ENST00000654931.1",
"protein_id": "ENSP00000499477.1",
"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": 4518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
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},
{
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},
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},
{
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},
{
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},
{
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"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "NNT",
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"hgvs_c": "n.-128_-125delACTC",
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"transcript": "ENST00000506893.1",
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}
],
"gene_symbol": "NNT",
"gene_hgnc_id": 7863,
"dbsnp": "rs786205345",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.777,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
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"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000344920.9",
"gene_symbol": "NNT",
"hgnc_id": 7863,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1107_1110delTCAC",
"hgvs_p": "p.His370fs"
}
],
"clinvar_disease": "Glucocorticoid deficiency 4",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Glucocorticoid deficiency 4",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}