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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: 10-5762568-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=5762568&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 5762568,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000695737.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.7211G>A",
"hgvs_p": "p.Ser2404Asn",
"transcript": "NM_001321783.2",
"protein_id": "NP_001308712.2",
"transcript_support_level": null,
"aa_start": 2404,
"aa_end": null,
"aa_length": 2430,
"cds_start": 7211,
"cds_end": null,
"cds_length": 7293,
"cdna_start": 7909,
"cdna_end": null,
"cdna_length": 8699,
"mane_select": "ENST00000695737.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.7211G>A",
"hgvs_p": "p.Ser2404Asn",
"transcript": "ENST00000695737.1",
"protein_id": "ENSP00000512130.1",
"transcript_support_level": null,
"aa_start": 2404,
"aa_end": null,
"aa_length": 2430,
"cds_start": 7211,
"cds_end": null,
"cds_length": 7293,
"cdna_start": 7909,
"cdna_end": null,
"cdna_length": 8699,
"mane_select": "NM_001321783.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.7211G>A",
"hgvs_p": "p.Ser2404Asn",
"transcript": "ENST00000328090.9",
"protein_id": "ENSP00000328426.5",
"transcript_support_level": 1,
"aa_start": 2404,
"aa_end": null,
"aa_length": 2430,
"cds_start": 7211,
"cds_end": null,
"cds_length": 7293,
"cdna_start": 7836,
"cdna_end": null,
"cdna_length": 8626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "n.669G>A",
"hgvs_p": null,
"transcript": "ENST00000459693.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.7994G>A",
"hgvs_p": "p.Ser2665Asn",
"transcript": "ENST00000699051.1",
"protein_id": "ENSP00000514102.1",
"transcript_support_level": null,
"aa_start": 2665,
"aa_end": null,
"aa_length": 2691,
"cds_start": 7994,
"cds_end": null,
"cds_length": 8076,
"cdna_start": 8088,
"cdna_end": null,
"cdna_length": 8917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.7916G>A",
"hgvs_p": "p.Ser2639Asn",
"transcript": "ENST00000699050.1",
"protein_id": "ENSP00000514101.1",
"transcript_support_level": null,
"aa_start": 2639,
"aa_end": null,
"aa_length": 2665,
"cds_start": 7916,
"cds_end": null,
"cds_length": 7998,
"cdna_start": 8186,
"cdna_end": null,
"cdna_length": 8976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.7856G>A",
"hgvs_p": "p.Ser2619Asn",
"transcript": "NM_001387328.1",
"protein_id": "NP_001374257.1",
"transcript_support_level": null,
"aa_start": 2619,
"aa_end": null,
"aa_length": 2645,
"cds_start": 7856,
"cds_end": null,
"cds_length": 7938,
"cdna_start": 7972,
"cdna_end": null,
"cdna_length": 8762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.7856G>A",
"hgvs_p": "p.Ser2619Asn",
"transcript": "ENST00000645567.1",
"protein_id": "ENSP00000496466.1",
"transcript_support_level": null,
"aa_start": 2619,
"aa_end": null,
"aa_length": 2645,
"cds_start": 7856,
"cds_end": null,
"cds_length": 7938,
"cdna_start": 7954,
"cdna_end": null,
"cdna_length": 8732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.7463G>A",
"hgvs_p": "p.Ser2488Asn",
"transcript": "ENST00000695832.1",
"protein_id": "ENSP00000512205.1",
"transcript_support_level": null,
"aa_start": 2488,
"aa_end": null,
"aa_length": 2514,
"cds_start": 7463,
"cds_end": null,
"cds_length": 7545,
"cdna_start": 7847,
"cdna_end": null,
"cdna_length": 8625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.7211G>A",
"hgvs_p": "p.Ser2404Asn",
"transcript": "NM_001321784.2",
"protein_id": "NP_001308713.2",
"transcript_support_level": null,
"aa_start": 2404,
"aa_end": null,
"aa_length": 2430,
"cds_start": 7211,
"cds_end": null,
"cds_length": 7293,
"cdna_start": 7955,
"cdna_end": null,
"cdna_length": 8745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.7211G>A",
"hgvs_p": "p.Ser2404Asn",
"transcript": "NM_017782.5",
"protein_id": "NP_060252.5",
"transcript_support_level": null,
"aa_start": 2404,
"aa_end": null,
"aa_length": 2430,
"cds_start": 7211,
"cds_end": null,
"cds_length": 7293,
"cdna_start": 7836,
"cdna_end": null,
"cdna_length": 8626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.7211G>A",
"hgvs_p": "p.Ser2404Asn",
"transcript": "ENST00000695834.1",
"protein_id": "ENSP00000512207.1",
"transcript_support_level": null,
"aa_start": 2404,
"aa_end": null,
"aa_length": 2430,
"cds_start": 7211,
"cds_end": null,
"cds_length": 7293,
"cdna_start": 7955,
"cdna_end": null,
"cdna_length": 8733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.6968G>A",
"hgvs_p": "p.Ser2323Asn",
"transcript": "NM_001321785.2",
"protein_id": "NP_001308714.2",
"transcript_support_level": null,
"aa_start": 2323,
"aa_end": null,
"aa_length": 2349,
"cds_start": 6968,
"cds_end": null,
"cds_length": 7050,
"cdna_start": 7666,
"cdna_end": null,
"cdna_length": 8456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.6968G>A",
"hgvs_p": "p.Ser2323Asn",
"transcript": "ENST00000695833.1",
"protein_id": "ENSP00000512206.1",
"transcript_support_level": null,
"aa_start": 2323,
"aa_end": null,
"aa_length": 2349,
"cds_start": 6968,
"cds_end": null,
"cds_length": 7050,
"cdna_start": 7666,
"cdna_end": null,
"cdna_length": 8444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "c.3686G>A",
"hgvs_p": "p.Ser1229Asn",
"transcript": "ENST00000695835.1",
"protein_id": "ENSP00000512208.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1255,
"cds_start": 3686,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 3953,
"cdna_end": null,
"cdna_length": 4635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "n.*3493G>A",
"hgvs_p": null,
"transcript": "ENST00000695836.1",
"protein_id": "ENSP00000512209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "n.*570G>A",
"hgvs_p": null,
"transcript": "ENST00000695837.1",
"protein_id": "ENSP00000512210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "n.*3493G>A",
"hgvs_p": null,
"transcript": "ENST00000695836.1",
"protein_id": "ENSP00000512209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"hgvs_c": "n.*570G>A",
"hgvs_p": null,
"transcript": "ENST00000695837.1",
"protein_id": "ENSP00000512210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TASOR2",
"gene_hgnc_id": 23484,
"dbsnp": "rs2797501",
"frequency_reference_population": 0.8537961,
"hom_count_reference_population": 500691,
"allele_count_reference_population": 1169687,
"gnomad_exomes_af": 0.852442,
"gnomad_genomes_af": 0.864874,
"gnomad_exomes_ac": 1040646,
"gnomad_genomes_ac": 129041,
"gnomad_exomes_homalt": 444832,
"gnomad_genomes_homalt": 55859,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 6.732448127877433e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.1108,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.212,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000695737.1",
"gene_symbol": "TASOR2",
"hgnc_id": 23484,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.7211G>A",
"hgvs_p": "p.Ser2404Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}