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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: 11-76795951-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=76795951&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 76795951,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001318477.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "NM_015516.4",
"protein_id": "NP_056331.2",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000333090.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015516.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "ENST00000333090.5",
"protein_id": "ENSP00000332668.4",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015516.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333090.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Ser126Leu",
"transcript": "NM_001318477.2",
"protein_id": "NP_001305406.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 367,
"cds_start": 377,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318477.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "NM_001258210.2",
"protein_id": "NP_001245139.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258210.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "NM_001318478.2",
"protein_id": "NP_001305407.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318478.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "NM_001318479.2",
"protein_id": "NP_001305408.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318479.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "ENST00000527881.1",
"protein_id": "ENSP00000434847.1",
"transcript_support_level": 2,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527881.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "ENST00000612930.1",
"protein_id": "ENSP00000482145.1",
"transcript_support_level": 4,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612930.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "ENST00000870292.1",
"protein_id": "ENSP00000540351.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870292.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "ENST00000870293.1",
"protein_id": "ENSP00000540352.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870293.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "ENST00000870294.1",
"protein_id": "ENSP00000540353.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870294.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "ENST00000870295.1",
"protein_id": "ENSP00000540354.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870295.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "ENST00000870296.1",
"protein_id": "ENSP00000540355.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870296.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "ENST00000870297.1",
"protein_id": "ENSP00000540356.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870297.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "ENST00000870298.1",
"protein_id": "ENSP00000540357.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870298.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "ENST00000870299.1",
"protein_id": "ENSP00000540358.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870299.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "ENST00000870300.1",
"protein_id": "ENSP00000540359.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870300.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "ENST00000956905.1",
"protein_id": "ENSP00000626964.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956905.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "ENST00000956906.1",
"protein_id": "ENSP00000626965.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956906.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "ENST00000533752.1",
"protein_id": "ENSP00000435133.1",
"transcript_support_level": 4,
"aa_start": 112,
"aa_end": null,
"aa_length": 149,
"cds_start": 335,
"cds_end": null,
"cds_length": 452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533752.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ser112Leu",
"transcript": "XM_047426726.1",
"protein_id": "XP_047282682.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 353,
"cds_start": 335,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426726.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"hgvs_c": "c.*19C>T",
"hgvs_p": null,
"transcript": "ENST00000525167.1",
"protein_id": "ENSP00000434873.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 104,
"cds_start": null,
"cds_end": null,
"cds_length": 316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525167.1"
}
],
"gene_symbol": "TSKU",
"gene_hgnc_id": 28850,
"dbsnp": "rs150218579",
"frequency_reference_population": 0.00026828123,
"hom_count_reference_population": 0,
"allele_count_reference_population": 433,
"gnomad_exomes_af": 0.000276397,
"gnomad_genomes_af": 0.000190401,
"gnomad_exomes_ac": 404,
"gnomad_genomes_ac": 29,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23341739177703857,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.185,
"revel_prediction": "Benign",
"alphamissense_score": 0.1255,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.857,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001318477.2",
"gene_symbol": "TSKU",
"hgnc_id": 28850,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Ser126Leu"
}
],
"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
}