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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: X-48893769-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48893769&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 48893769,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001167947.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.479C>A",
"hgvs_p": "p.Thr160Asn",
"transcript": "NM_001395498.1",
"protein_id": "NP_001382427.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 172,
"cds_start": 479,
"cds_end": null,
"cds_length": 519,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 818,
"mane_select": "ENST00000696123.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395498.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.479C>A",
"hgvs_p": "p.Thr160Asn",
"transcript": "ENST00000696123.1",
"protein_id": "ENSP00000512416.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 172,
"cds_start": 479,
"cds_end": null,
"cds_length": 519,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 818,
"mane_select": "NM_001395498.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696123.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.479C>A",
"hgvs_p": "p.Thr160Asn",
"transcript": "ENST00000376582.7",
"protein_id": "ENSP00000365766.3",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 172,
"cds_start": 479,
"cds_end": null,
"cds_length": 519,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376582.7"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.896C>A",
"hgvs_p": "p.Thr299Asn",
"transcript": "ENST00000920116.1",
"protein_id": "ENSP00000590175.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 311,
"cds_start": 896,
"cds_end": null,
"cds_length": 936,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 1228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920116.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.629C>A",
"hgvs_p": "p.Thr210Asn",
"transcript": "NM_001167947.2",
"protein_id": "NP_001161419.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 222,
"cds_start": 629,
"cds_end": null,
"cds_length": 669,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 1100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167947.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.629C>A",
"hgvs_p": "p.Thr210Asn",
"transcript": "NM_001395497.1",
"protein_id": "NP_001382426.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 222,
"cds_start": 629,
"cds_end": null,
"cds_length": 669,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395497.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.629C>A",
"hgvs_p": "p.Thr210Asn",
"transcript": "ENST00000396779.7",
"protein_id": "ENSP00000379999.3",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 222,
"cds_start": 629,
"cds_end": null,
"cds_length": 669,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 1099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396779.7"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.629C>A",
"hgvs_p": "p.Thr210Asn",
"transcript": "ENST00000465150.6",
"protein_id": "ENSP00000477073.1",
"transcript_support_level": 2,
"aa_start": 210,
"aa_end": null,
"aa_length": 222,
"cds_start": 629,
"cds_end": null,
"cds_length": 669,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465150.6"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.629C>A",
"hgvs_p": "p.Thr210Asn",
"transcript": "ENST00000876514.1",
"protein_id": "ENSP00000546573.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 222,
"cds_start": 629,
"cds_end": null,
"cds_length": 669,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876514.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.539C>A",
"hgvs_p": "p.Thr180Asn",
"transcript": "ENST00000495490.6",
"protein_id": "ENSP00000477027.1",
"transcript_support_level": 5,
"aa_start": 180,
"aa_end": null,
"aa_length": 192,
"cds_start": 539,
"cds_end": null,
"cds_length": 579,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495490.6"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Thr167Asn",
"transcript": "ENST00000696124.1",
"protein_id": "ENSP00000512417.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 179,
"cds_start": 500,
"cds_end": null,
"cds_length": 540,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696124.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.479C>A",
"hgvs_p": "p.Thr160Asn",
"transcript": "NM_005834.5",
"protein_id": "NP_005825.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 172,
"cds_start": 479,
"cds_end": null,
"cds_length": 519,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005834.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Thr159Asn",
"transcript": "ENST00000920114.1",
"protein_id": "ENSP00000590173.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 171,
"cds_start": 476,
"cds_end": null,
"cds_length": 516,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920114.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.350C>A",
"hgvs_p": "p.Thr117Asn",
"transcript": "ENST00000920115.1",
"protein_id": "ENSP00000590174.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 129,
"cds_start": 350,
"cds_end": null,
"cds_length": 390,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920115.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.-632+3072G>T",
"hgvs_p": null,
"transcript": "ENST00000651767.1",
"protein_id": "ENSP00000498362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": null,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651767.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.-19+3072G>T",
"hgvs_p": null,
"transcript": "ENST00000875808.1",
"protein_id": "ENSP00000545867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": null,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875808.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.-19+2378G>T",
"hgvs_p": null,
"transcript": "ENST00000920021.1",
"protein_id": "ENSP00000590080.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": null,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1081,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920021.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PQBP1",
"gene_hgnc_id": 9330,
"hgvs_c": "c.-19+3072G>T",
"hgvs_p": null,
"transcript": "ENST00000965909.1",
"protein_id": "ENSP00000635968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965909.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "n.*1015C>A",
"hgvs_p": null,
"transcript": "ENST00000466995.5",
"protein_id": "ENSP00000476861.1",
"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": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000466995.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "n.589C>A",
"hgvs_p": null,
"transcript": "ENST00000472645.1",
"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": 804,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000472645.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "n.*1015C>A",
"hgvs_p": null,
"transcript": "ENST00000466995.5",
"protein_id": "ENSP00000476861.1",
"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": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000466995.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "TIMM17B",
"gene_hgnc_id": 17310,
"hgvs_c": "c.*231C>A",
"hgvs_p": null,
"transcript": "ENST00000490755.2",
"protein_id": "ENSP00000477085.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490755.2"
}
],
"gene_symbol": "TIMM17B",
"gene_hgnc_id": 17310,
"dbsnp": "rs782624478",
"frequency_reference_population": 0.0005282941,
"hom_count_reference_population": 317,
"allele_count_reference_population": 617,
"gnomad_exomes_af": 0.000554889,
"gnomad_genomes_af": 0.000277174,
"gnomad_exomes_ac": 586,
"gnomad_genomes_ac": 31,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004162400960922241,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.057,
"revel_prediction": "Benign",
"alphamissense_score": 0.057,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.036,
"phylop100way_prediction": "Benign",
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001167947.2",
"gene_symbol": "TIMM17B",
"hgnc_id": 17310,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.629C>A",
"hgvs_p": "p.Thr210Asn"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000651767.1",
"gene_symbol": "PQBP1",
"hgnc_id": 9330,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.-632+3072G>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}