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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: 15-60511240-GAC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=60511240&ref=GAC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 60511240,
"ref": "GAC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000335670.11",
"consequences": [
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.804_805delGT",
"hgvs_p": "p.Ser269fs",
"transcript": "NM_134261.3",
"protein_id": "NP_599023.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 523,
"cds_start": 804,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 10827,
"mane_select": "ENST00000335670.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.804_805delGT",
"hgvs_p": "p.Ser269fs",
"transcript": "ENST00000335670.11",
"protein_id": "ENSP00000335087.6",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 523,
"cds_start": 804,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 10827,
"mane_select": "NM_134261.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.903_904delGT",
"hgvs_p": "p.Ser302fs",
"transcript": "ENST00000261523.9",
"protein_id": "ENSP00000261523.5",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 556,
"cds_start": 903,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.879_880delGT",
"hgvs_p": "p.Ser294fs",
"transcript": "ENST00000309157.8",
"protein_id": "ENSP00000309753.3",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 548,
"cds_start": 879,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.639_640delGT",
"hgvs_p": "p.Ser214fs",
"transcript": "ENST00000449337.6",
"protein_id": "ENSP00000402971.2",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 468,
"cds_start": 639,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 1701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.903_904delGT",
"hgvs_p": "p.Ser302fs",
"transcript": "NM_134260.3",
"protein_id": "NP_599022.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 556,
"cds_start": 903,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 10998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.879_880delGT",
"hgvs_p": "p.Ser294fs",
"transcript": "NM_002943.4",
"protein_id": "NP_002934.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 548,
"cds_start": 879,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 10974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.639_640delGT",
"hgvs_p": "p.Ser214fs",
"transcript": "NM_134262.3",
"protein_id": "NP_599024.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 468,
"cds_start": 639,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 10687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.810_811delGT",
"hgvs_p": "p.Ser271fs",
"transcript": "XM_011521874.2",
"protein_id": "XP_011520176.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 525,
"cds_start": 810,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 10839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.747_748delGT",
"hgvs_p": "p.Ser250fs",
"transcript": "XM_011521875.3",
"protein_id": "XP_011520177.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 504,
"cds_start": 747,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 10910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.636_637delGT",
"hgvs_p": "p.Ser213fs",
"transcript": "XM_011521877.4",
"protein_id": "XP_011520179.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 467,
"cds_start": 636,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 2044,
"cdna_end": null,
"cdna_length": 11982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.393_394delGT",
"hgvs_p": "p.Ser132fs",
"transcript": "XM_047432928.1",
"protein_id": "XP_047288884.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 386,
"cds_start": 393,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 2395,
"cdna_end": null,
"cdna_length": 12333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.393_394delGT",
"hgvs_p": "p.Ser132fs",
"transcript": "XM_047432929.1",
"protein_id": "XP_047288885.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 386,
"cds_start": 393,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 10942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.393_394delGT",
"hgvs_p": "p.Ser132fs",
"transcript": "XM_047432930.1",
"protein_id": "XP_047288886.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 386,
"cds_start": 393,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 10833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.363_364delGT",
"hgvs_p": "p.Ser122fs",
"transcript": "XM_011521879.4",
"protein_id": "XP_011520181.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 376,
"cds_start": 363,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 10387,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "n.445_446delGT",
"hgvs_p": null,
"transcript": "ENST00000559587.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RORA-AS1",
"gene_hgnc_id": 51410,
"hgvs_c": "n.441+711_441+712delCA",
"hgvs_p": null,
"transcript": "ENST00000501579.7",
"protein_id": null,
"transcript_support_level": 5,
"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": 972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RORA-AS1",
"gene_hgnc_id": 51410,
"hgvs_c": "n.442+711_442+712delCA",
"hgvs_p": null,
"transcript": "ENST00000558140.7",
"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": 938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RORA-AS1",
"gene_hgnc_id": 51410,
"hgvs_c": "n.318+711_318+712delCA",
"hgvs_p": null,
"transcript": "ENST00000558235.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RORA-AS1",
"gene_hgnc_id": 51410,
"hgvs_c": "n.415+711_415+712delCA",
"hgvs_p": null,
"transcript": "ENST00000559824.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RORA-AS1",
"gene_hgnc_id": 51410,
"hgvs_c": "n.126+711_126+712delCA",
"hgvs_p": null,
"transcript": "ENST00000559902.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RORA-AS1",
"gene_hgnc_id": 51410,
"hgvs_c": "n.439+711_439+712delCA",
"hgvs_p": null,
"transcript": "ENST00000660694.1",
"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": 890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RORA-AS1",
"gene_hgnc_id": 51410,
"hgvs_c": "n.402+711_402+712delCA",
"hgvs_p": null,
"transcript": "ENST00000841380.1",
"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,
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"hom_count_reference_population": 0,
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"computational_score_selected": null,
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"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": null,
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"phylop100way_score": 7.229,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
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"benign_score": 0,
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"PVS1",
"PM2",
"PP5_Moderate"
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"verdict": "Pathogenic",
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"gene_symbol": "RORA",
"hgnc_id": 10258,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
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"hgvs_p": "p.Ser269fs"
},
{
"score": 4,
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"criteria": [
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"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000558140.7",
"gene_symbol": "RORA-AS1",
"hgnc_id": 51410,
"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Intellectual developmental disorder with or without epilepsy or cerebellar ataxia,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1 O:1",
"phenotype_combined": "Intellectual developmental disorder with or without epilepsy or cerebellar ataxia|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}