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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: 15-60499915-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=60499915&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 60499915,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_134260.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Arg462*",
"transcript": "NM_134261.3",
"protein_id": "NP_599023.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 523,
"cds_start": 1384,
"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": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Arg462*",
"transcript": "ENST00000335670.11",
"protein_id": "ENSP00000335087.6",
"transcript_support_level": 1,
"aa_start": 462,
"aa_end": null,
"aa_length": 523,
"cds_start": 1384,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1483C>T",
"hgvs_p": "p.Arg495*",
"transcript": "ENST00000261523.9",
"protein_id": "ENSP00000261523.5",
"transcript_support_level": 1,
"aa_start": 495,
"aa_end": null,
"aa_length": 556,
"cds_start": 1483,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1459C>T",
"hgvs_p": "p.Arg487*",
"transcript": "ENST00000309157.8",
"protein_id": "ENSP00000309753.3",
"transcript_support_level": 1,
"aa_start": 487,
"aa_end": null,
"aa_length": 548,
"cds_start": 1459,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1219C>T",
"hgvs_p": "p.Arg407*",
"transcript": "ENST00000449337.6",
"protein_id": "ENSP00000402971.2",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 468,
"cds_start": 1219,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1483C>T",
"hgvs_p": "p.Arg495*",
"transcript": "NM_134260.3",
"protein_id": "NP_599022.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 556,
"cds_start": 1483,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1459C>T",
"hgvs_p": "p.Arg487*",
"transcript": "NM_002943.4",
"protein_id": "NP_002934.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 548,
"cds_start": 1459,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1219C>T",
"hgvs_p": "p.Arg407*",
"transcript": "NM_134262.3",
"protein_id": "NP_599024.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 468,
"cds_start": 1219,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1390C>T",
"hgvs_p": "p.Arg464*",
"transcript": "XM_011521874.2",
"protein_id": "XP_011520176.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 525,
"cds_start": 1390,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1327C>T",
"hgvs_p": "p.Arg443*",
"transcript": "XM_011521875.3",
"protein_id": "XP_011520177.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 504,
"cds_start": 1327,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.1216C>T",
"hgvs_p": "p.Arg406*",
"transcript": "XM_011521877.4",
"protein_id": "XP_011520179.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 467,
"cds_start": 1216,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325*",
"transcript": "XM_047432928.1",
"protein_id": "XP_047288884.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 386,
"cds_start": 973,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325*",
"transcript": "XM_047432929.1",
"protein_id": "XP_047288885.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 386,
"cds_start": 973,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Arg325*",
"transcript": "XM_047432930.1",
"protein_id": "XP_047288886.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 386,
"cds_start": 973,
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.943C>T",
"hgvs_p": "p.Arg315*",
"transcript": "XM_011521879.4",
"protein_id": "XP_011520181.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 376,
"cds_start": 943,
"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.316-10493G>A",
"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.317-10493G>A",
"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.193-10493G>A",
"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,
"cdna_end": null,
"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.290-10493G>A",
"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.314-10493G>A",
"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,
"cds_end": null,
"cds_length": null,
"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.277-10493G>A",
"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.206-10493G>A",
"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"
},
{
"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,
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{
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{
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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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"biotype": "pseudogene",
"feature": "NR_120342.1"
}
],
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"dbsnp": "rs1198203108",
"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": 0.6499999761581421,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"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": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.051,
"phylop100way_prediction": "Uncertain_significance",
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_134260.3",
"gene_symbol": "RORA",
"hgnc_id": 10258,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1483C>T",
"hgvs_p": "p.Arg495*"
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000558140.7",
"gene_symbol": "RORA-AS1",
"hgnc_id": 51410,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.317-10493G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}