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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: 13-72755211-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=72755211&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 72755211,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024808.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORA",
"gene_hgnc_id": 24724,
"hgvs_c": "c.1675C>A",
"hgvs_p": "p.Pro559Thr",
"transcript": "NM_024808.5",
"protein_id": "NP_079084.4",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 559,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000390667.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024808.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORA",
"gene_hgnc_id": 24724,
"hgvs_c": "c.1675C>A",
"hgvs_p": "p.Pro559Thr",
"transcript": "ENST00000390667.11",
"protein_id": "ENSP00000375082.6",
"transcript_support_level": 1,
"aa_start": 559,
"aa_end": null,
"aa_length": 559,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024808.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000390667.11"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORA",
"gene_hgnc_id": 24724,
"hgvs_c": "c.1900C>A",
"hgvs_p": "p.Pro634Thr",
"transcript": "ENST00000613797.4",
"protein_id": "ENSP00000479266.1",
"transcript_support_level": 1,
"aa_start": 634,
"aa_end": null,
"aa_length": 634,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613797.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3",
"gene_hgnc_id": 20604,
"hgvs_c": "c.*4584G>T",
"hgvs_p": null,
"transcript": "NM_014953.5",
"protein_id": "NP_055768.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 958,
"cds_start": null,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377767.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014953.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3",
"gene_hgnc_id": 20604,
"hgvs_c": "c.*4584G>T",
"hgvs_p": null,
"transcript": "ENST00000377767.9",
"protein_id": "ENSP00000366997.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 958,
"cds_start": null,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014953.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377767.9"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORA",
"gene_hgnc_id": 24724,
"hgvs_c": "c.1675C>A",
"hgvs_p": "p.Pro559Thr",
"transcript": "NM_001286746.3",
"protein_id": "NP_001273675.2",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 559,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286746.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORA",
"gene_hgnc_id": 24724,
"hgvs_c": "c.1675C>A",
"hgvs_p": "p.Pro559Thr",
"transcript": "ENST00000651477.1",
"protein_id": "ENSP00000498664.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 559,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651477.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORA",
"gene_hgnc_id": 24724,
"hgvs_c": "c.1675C>A",
"hgvs_p": "p.Pro559Thr",
"transcript": "ENST00000864460.1",
"protein_id": "ENSP00000534519.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 559,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864460.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORA",
"gene_hgnc_id": 24724,
"hgvs_c": "c.1675C>A",
"hgvs_p": "p.Pro559Thr",
"transcript": "ENST00000940591.1",
"protein_id": "ENSP00000610650.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 559,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940591.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORA",
"gene_hgnc_id": 24724,
"hgvs_c": "c.1522C>A",
"hgvs_p": "p.Pro508Thr",
"transcript": "NM_001366664.2",
"protein_id": "NP_001353593.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 508,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366664.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORA",
"gene_hgnc_id": 24724,
"hgvs_c": "c.1522C>A",
"hgvs_p": "p.Pro508Thr",
"transcript": "ENST00000864459.1",
"protein_id": "ENSP00000534518.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 508,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864459.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORA",
"gene_hgnc_id": 24724,
"hgvs_c": "c.1522C>A",
"hgvs_p": "p.Pro508Thr",
"transcript": "ENST00000864461.1",
"protein_id": "ENSP00000534520.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 508,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864461.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORA",
"gene_hgnc_id": 24724,
"hgvs_c": "c.1522C>A",
"hgvs_p": "p.Pro508Thr",
"transcript": "ENST00000940592.1",
"protein_id": "ENSP00000610651.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 508,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940592.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORA",
"gene_hgnc_id": 24724,
"hgvs_c": "c.1465C>A",
"hgvs_p": "p.Pro489Thr",
"transcript": "NM_001286747.2",
"protein_id": "NP_001273676.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 489,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286747.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORA",
"gene_hgnc_id": 24724,
"hgvs_c": "c.1465C>A",
"hgvs_p": "p.Pro489Thr",
"transcript": "ENST00000652266.1",
"protein_id": "ENSP00000498882.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 489,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652266.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3",
"gene_hgnc_id": 20604,
"hgvs_c": "c.*4584G>T",
"hgvs_p": null,
"transcript": "NM_001128226.3",
"protein_id": "NP_001121698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": null,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128226.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3",
"gene_hgnc_id": 20604,
"hgvs_c": "c.*4584G>T",
"hgvs_p": null,
"transcript": "NM_001322348.2",
"protein_id": "NP_001309277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 835,
"cds_start": null,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322348.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3",
"gene_hgnc_id": 20604,
"hgvs_c": "c.*4584G>T",
"hgvs_p": null,
"transcript": "NM_001322349.2",
"protein_id": "NP_001309278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 796,
"cds_start": null,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322349.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORA",
"gene_hgnc_id": 24724,
"hgvs_c": "n.*1406C>A",
"hgvs_p": null,
"transcript": "ENST00000651376.1",
"protein_id": "ENSP00000499159.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651376.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORA",
"gene_hgnc_id": 24724,
"hgvs_c": "n.*1406C>A",
"hgvs_p": null,
"transcript": "ENST00000651376.1",
"protein_id": "ENSP00000499159.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651376.1"
}
],
"gene_symbol": "BORA",
"gene_hgnc_id": 24724,
"dbsnp": "rs201254426",
"frequency_reference_population": 0.0001763445,
"hom_count_reference_population": 0,
"allele_count_reference_population": 284,
"gnomad_exomes_af": 0.000170742,
"gnomad_genomes_af": 0.000230042,
"gnomad_exomes_ac": 249,
"gnomad_genomes_ac": 35,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06011700630187988,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.0975,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.188,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_024808.5",
"gene_symbol": "BORA",
"hgnc_id": 24724,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1675C>A",
"hgvs_p": "p.Pro559Thr"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_014953.5",
"gene_symbol": "DIS3",
"hgnc_id": 20604,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*4584G>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
}