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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: 15-60502847-T-TAAAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=60502847&ref=T&alt=TAAAC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 60502847,
"ref": "T",
"alt": "TAAAC",
"effect": "frameshift_variant",
"transcript": "NM_134260.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "FV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1092_1095dupGTTT",
"hgvs_p": "p.Ile366fs",
"transcript": "NM_134261.3",
"protein_id": "NP_599023.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 523,
"cds_start": 1095,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335670.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_134261.3"
},
{
"aa_ref": "F",
"aa_alt": "FV?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1092_1095dupGTTT",
"hgvs_p": "p.Ile366fs",
"transcript": "ENST00000335670.11",
"protein_id": "ENSP00000335087.6",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 523,
"cds_start": 1095,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_134261.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335670.11"
},
{
"aa_ref": "F",
"aa_alt": "FV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1191_1194dupGTTT",
"hgvs_p": "p.Ile399fs",
"transcript": "ENST00000261523.9",
"protein_id": "ENSP00000261523.5",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 556,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261523.9"
},
{
"aa_ref": "F",
"aa_alt": "FV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1167_1170dupGTTT",
"hgvs_p": "p.Ile391fs",
"transcript": "ENST00000309157.8",
"protein_id": "ENSP00000309753.3",
"transcript_support_level": 1,
"aa_start": 390,
"aa_end": null,
"aa_length": 548,
"cds_start": 1170,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309157.8"
},
{
"aa_ref": "F",
"aa_alt": "FV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.927_930dupGTTT",
"hgvs_p": "p.Ile311fs",
"transcript": "ENST00000449337.6",
"protein_id": "ENSP00000402971.2",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 468,
"cds_start": 930,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449337.6"
},
{
"aa_ref": "F",
"aa_alt": "FV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1191_1194dupGTTT",
"hgvs_p": "p.Ile399fs",
"transcript": "NM_134260.3",
"protein_id": "NP_599022.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 556,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_134260.3"
},
{
"aa_ref": "F",
"aa_alt": "FV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1167_1170dupGTTT",
"hgvs_p": "p.Ile391fs",
"transcript": "NM_002943.4",
"protein_id": "NP_002934.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 548,
"cds_start": 1170,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002943.4"
},
{
"aa_ref": "F",
"aa_alt": "FV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.927_930dupGTTT",
"hgvs_p": "p.Ile311fs",
"transcript": "NM_134262.3",
"protein_id": "NP_599024.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 468,
"cds_start": 930,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_134262.3"
},
{
"aa_ref": "F",
"aa_alt": "FV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1098_1101dupGTTT",
"hgvs_p": "p.Ile368fs",
"transcript": "XM_011521874.2",
"protein_id": "XP_011520176.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 525,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521874.2"
},
{
"aa_ref": "F",
"aa_alt": "FV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1035_1038dupGTTT",
"hgvs_p": "p.Ile347fs",
"transcript": "XM_011521875.3",
"protein_id": "XP_011520177.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 504,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521875.3"
},
{
"aa_ref": "F",
"aa_alt": "FV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.924_927dupGTTT",
"hgvs_p": "p.Ile310fs",
"transcript": "XM_011521877.4",
"protein_id": "XP_011520179.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 467,
"cds_start": 927,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521877.4"
},
{
"aa_ref": "F",
"aa_alt": "FV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.681_684dupGTTT",
"hgvs_p": "p.Ile229fs",
"transcript": "XM_047432928.1",
"protein_id": "XP_047288884.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 386,
"cds_start": 684,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432928.1"
},
{
"aa_ref": "F",
"aa_alt": "FV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.681_684dupGTTT",
"hgvs_p": "p.Ile229fs",
"transcript": "XM_047432929.1",
"protein_id": "XP_047288885.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 386,
"cds_start": 684,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432929.1"
},
{
"aa_ref": "F",
"aa_alt": "FV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.681_684dupGTTT",
"hgvs_p": "p.Ile229fs",
"transcript": "XM_047432930.1",
"protein_id": "XP_047288886.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 386,
"cds_start": 684,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432930.1"
},
{
"aa_ref": "F",
"aa_alt": "FV?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.651_654dupGTTT",
"hgvs_p": "p.Ile219fs",
"transcript": "XM_011521879.4",
"protein_id": "XP_011520181.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 376,
"cds_start": 654,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521879.4"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "RORA-AS1",
"gene_hgnc_id": 51410,
"hgvs_c": "n.316-7559_316-7556dupAACA",
"hgvs_p": null,
"transcript": "ENST00000501579.7",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000501579.7"
},
{
"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.317-7559_317-7556dupAACA",
"hgvs_p": null,
"transcript": "ENST00000558140.7",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000558140.7"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "RORA-AS1",
"gene_hgnc_id": 51410,
"hgvs_c": "n.193-7559_193-7556dupAACA",
"hgvs_p": null,
"transcript": "ENST00000558235.5",
"protein_id": null,
"transcript_support_level": 4,
"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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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000558235.5"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "RORA-AS1",
"gene_hgnc_id": 51410,
"hgvs_c": "n.290-7559_290-7556dupAACA",
"hgvs_p": null,
"transcript": "ENST00000559824.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000559824.5"
},
{
"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.314-7559_314-7556dupAACA",
"hgvs_p": null,
"transcript": "ENST00000660694.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000660694.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "RORA-AS1",
"gene_hgnc_id": 51410,
"hgvs_c": "n.277-7559_277-7556dupAACA",
"hgvs_p": null,
"transcript": "ENST00000841380.1",
"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": "pseudogene",
"feature": "ENST00000841380.1"
},
{
"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.206-7559_206-7556dupAACA",
"hgvs_p": null,
"transcript": "ENST00000841381.1",
"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": "pseudogene",
"feature": "ENST00000841381.1"
},
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{
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},
{
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],
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"gene_symbol": "RORA-AS1",
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},
{
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],
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"gene_symbol": "RORA-AS1",
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{
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},
{
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],
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},
{
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"intron_variant"
],
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"gene_symbol": "RORA-AS1",
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"biotype": "pseudogene",
"feature": "NR_120342.1"
}
],
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"dbsnp": "rs2065374158",
"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": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.882,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_134260.3",
"gene_symbol": "RORA",
"hgnc_id": 10258,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1191_1194dupGTTT",
"hgvs_p": "p.Ile399fs"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000558140.7",
"gene_symbol": "RORA-AS1",
"hgnc_id": 51410,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.317-7559_317-7556dupAACA",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}