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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: 6-36136668-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=36136668&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 36136668,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002754.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK13",
"gene_hgnc_id": 6875,
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Gly170Arg",
"transcript": "NM_002754.5",
"protein_id": "NP_002745.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 365,
"cds_start": 508,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 6316,
"mane_select": "ENST00000211287.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002754.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK13",
"gene_hgnc_id": 6875,
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Gly170Arg",
"transcript": "ENST00000211287.9",
"protein_id": "ENSP00000211287.4",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 365,
"cds_start": 508,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 6316,
"mane_select": "NM_002754.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000211287.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK13",
"gene_hgnc_id": 6875,
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Gly170Arg",
"transcript": "ENST00000373766.9",
"protein_id": "ENSP00000362871.5",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 257,
"cds_start": 508,
"cds_end": null,
"cds_length": 774,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 6196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373766.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK13",
"gene_hgnc_id": 6875,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Arg",
"transcript": "ENST00000874020.1",
"protein_id": "ENSP00000544079.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 436,
"cds_start": 721,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874020.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK13",
"gene_hgnc_id": 6875,
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Gly170Arg",
"transcript": "ENST00000874021.1",
"protein_id": "ENSP00000544080.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 376,
"cds_start": 508,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874021.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK13",
"gene_hgnc_id": 6875,
"hgvs_c": "c.478G>A",
"hgvs_p": "p.Gly160Arg",
"transcript": "ENST00000939826.1",
"protein_id": "ENSP00000609885.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 355,
"cds_start": 478,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939826.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK13",
"gene_hgnc_id": 6875,
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Gly170Arg",
"transcript": "ENST00000954698.1",
"protein_id": "ENSP00000624757.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 341,
"cds_start": 508,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954698.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK13",
"gene_hgnc_id": 6875,
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Gly144Arg",
"transcript": "ENST00000954697.1",
"protein_id": "ENSP00000624756.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 339,
"cds_start": 430,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954697.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK13",
"gene_hgnc_id": 6875,
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Gly92Arg",
"transcript": "ENST00000373759.1",
"protein_id": "ENSP00000362864.1",
"transcript_support_level": 5,
"aa_start": 92,
"aa_end": null,
"aa_length": 152,
"cds_start": 274,
"cds_end": null,
"cds_length": 459,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 1036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373759.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK13",
"gene_hgnc_id": 6875,
"hgvs_c": "n.578G>A",
"hgvs_p": null,
"transcript": "NR_072996.2",
"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": 6164,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_072996.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRPF3-AS1",
"gene_hgnc_id": 55591,
"hgvs_c": "n.398-23334C>T",
"hgvs_p": null,
"transcript": "ENST00000816533.1",
"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": 649,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000816533.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRPF3-AS1",
"gene_hgnc_id": 55591,
"hgvs_c": "n.375-16852C>T",
"hgvs_p": null,
"transcript": "ENST00000816534.1",
"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": 773,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000816534.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BRPF3-AS1",
"gene_hgnc_id": 55591,
"hgvs_c": "n.553-23334C>T",
"hgvs_p": null,
"transcript": "ENST00000816535.1",
"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": 1421,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000816535.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRPF3-AS1",
"gene_hgnc_id": 55591,
"hgvs_c": "n.394-23334C>T",
"hgvs_p": null,
"transcript": "ENST00000816536.1",
"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": 650,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000816536.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BRPF3-AS1",
"gene_hgnc_id": 55591,
"hgvs_c": "n.246-23334C>T",
"hgvs_p": null,
"transcript": "ENST00000816537.1",
"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": 502,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000816537.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRPF3-AS1",
"gene_hgnc_id": 55591,
"hgvs_c": "n.380-20744C>T",
"hgvs_p": null,
"transcript": "ENST00000816538.1",
"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": 757,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000816538.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BRPF3-AS1",
"gene_hgnc_id": 55591,
"hgvs_c": "n.530-23334C>T",
"hgvs_p": null,
"transcript": "ENST00000816539.1",
"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": 786,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000816539.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRPF3-AS1",
"gene_hgnc_id": 55591,
"hgvs_c": "n.544-23334C>T",
"hgvs_p": null,
"transcript": "ENST00000816540.1",
"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": 800,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000816540.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BRPF3-AS1",
"gene_hgnc_id": 55591,
"hgvs_c": "n.499-20563C>T",
"hgvs_p": null,
"transcript": "ENST00000816541.1",
"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": 877,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000816541.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BRPF3-AS1",
"gene_hgnc_id": 55591,
"hgvs_c": "n.481-16805C>T",
"hgvs_p": null,
"transcript": "ENST00000816542.1",
"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": 926,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000816542.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BRPF3-AS1",
"gene_hgnc_id": 55591,
"hgvs_c": "n.350-20744C>T",
"hgvs_p": null,
"transcript": "ENST00000816543.1",
"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": 728,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000816543.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BRPF3-AS1",
"gene_hgnc_id": 55591,
"hgvs_c": "n.385+21980C>T",
"hgvs_p": null,
"transcript": "ENST00000816544.1",
"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": 642,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000816544.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK13",
"gene_hgnc_id": 6875,
"hgvs_c": "n.*153G>A",
"hgvs_p": null,
"transcript": "ENST00000490334.1",
"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": 649,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000490334.1"
}
],
"gene_symbol": "MAPK13",
"gene_hgnc_id": 6875,
"dbsnp": "rs1351747744",
"frequency_reference_population": 0.000011631901,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000116319,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9923851490020752,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.898,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.997,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.899,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.12,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_002754.5",
"gene_symbol": "MAPK13",
"hgnc_id": 6875,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Gly170Arg"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000816533.1",
"gene_symbol": "BRPF3-AS1",
"hgnc_id": 55591,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.398-23334C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}