← Back to variant description
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: 13-30957012-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=30957012&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 30957012,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152325.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Phe151Ser",
"transcript": "NM_152325.3",
"protein_id": "NP_689538.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 289,
"cds_start": 452,
"cds_end": null,
"cds_length": 870,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1523,
"mane_select": "ENST00000380473.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152325.3"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Phe151Ser",
"transcript": "ENST00000380473.8",
"protein_id": "ENSP00000369840.3",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 289,
"cds_start": 452,
"cds_end": null,
"cds_length": 870,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1523,
"mane_select": "NM_152325.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380473.8"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "c.59T>C",
"hgvs_p": "p.Phe20Ser",
"transcript": "NM_001353388.2",
"protein_id": "NP_001340317.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 158,
"cds_start": 59,
"cds_end": null,
"cds_length": 477,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353388.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "c.59T>C",
"hgvs_p": "p.Phe20Ser",
"transcript": "NM_001353389.2",
"protein_id": "NP_001340318.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 158,
"cds_start": 59,
"cds_end": null,
"cds_length": 477,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 1438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353389.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "c.59T>C",
"hgvs_p": "p.Phe20Ser",
"transcript": "NM_001353390.2",
"protein_id": "NP_001340319.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 158,
"cds_start": 59,
"cds_end": null,
"cds_length": 477,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 1272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353390.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "c.59T>C",
"hgvs_p": "p.Phe20Ser",
"transcript": "NM_001353391.2",
"protein_id": "NP_001340320.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 158,
"cds_start": 59,
"cds_end": null,
"cds_length": 477,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 1357,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353391.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Phe150Ser",
"transcript": "XM_011534919.4",
"protein_id": "XP_011533221.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 288,
"cds_start": 449,
"cds_end": null,
"cds_length": 867,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 1520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534919.4"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Phe151Ser",
"transcript": "XM_011534921.4",
"protein_id": "XP_011533223.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 273,
"cds_start": 452,
"cds_end": null,
"cds_length": 822,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534921.4"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Phe151Ser",
"transcript": "XM_011534924.4",
"protein_id": "XP_011533226.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 257,
"cds_start": 452,
"cds_end": null,
"cds_length": 774,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534924.4"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "c.356T>C",
"hgvs_p": "p.Phe119Ser",
"transcript": "XM_047430094.1",
"protein_id": "XP_047286050.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 257,
"cds_start": 356,
"cds_end": null,
"cds_length": 774,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 1656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430094.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Phe151Ser",
"transcript": "XM_011534925.4",
"protein_id": "XP_011533227.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 235,
"cds_start": 452,
"cds_end": null,
"cds_length": 708,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534925.4"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Phe151Ser",
"transcript": "XM_011534926.4",
"protein_id": "XP_011533228.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 176,
"cds_start": 452,
"cds_end": null,
"cds_length": 531,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1184,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534926.4"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Phe151Ser",
"transcript": "XM_011534927.4",
"protein_id": "XP_011533229.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 172,
"cds_start": 452,
"cds_end": null,
"cds_length": 519,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534927.4"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "c.62-9210T>C",
"hgvs_p": null,
"transcript": "ENST00000944411.1",
"protein_id": "ENSP00000614470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944411.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "c.62-9210T>C",
"hgvs_p": null,
"transcript": "ENST00000944412.1",
"protein_id": "ENSP00000614471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 899,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944412.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "c.62-17834T>C",
"hgvs_p": null,
"transcript": "ENST00000906072.1",
"protein_id": "ENSP00000576131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": null,
"cds_end": null,
"cds_length": 123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906072.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "n.55T>C",
"hgvs_p": null,
"transcript": "ENST00000530916.1",
"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": 727,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000530916.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "n.*91T>C",
"hgvs_p": null,
"transcript": "ENST00000531960.1",
"protein_id": "ENSP00000435263.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000531960.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "n.427T>C",
"hgvs_p": null,
"transcript": "NR_148425.2",
"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": 1099,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148425.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "n.512T>C",
"hgvs_p": null,
"transcript": "XR_001749479.3",
"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": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001749479.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "n.512T>C",
"hgvs_p": null,
"transcript": "XR_941493.4",
"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": 1077,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_941493.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"hgvs_c": "n.*91T>C",
"hgvs_p": null,
"transcript": "ENST00000531960.1",
"protein_id": "ENSP00000435263.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000531960.1"
}
],
"gene_symbol": "TEX26",
"gene_hgnc_id": 28622,
"dbsnp": "rs1954162888",
"frequency_reference_population": 6.840694e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84069e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8218578100204468,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.348,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7073,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.432,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152325.3",
"gene_symbol": "TEX26",
"hgnc_id": 28622,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Phe151Ser"
}
],
"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
}