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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: 11-73958330-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=73958330&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 73958330,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_153614.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB13",
"gene_hgnc_id": 30718,
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"transcript": "NM_153614.4",
"protein_id": "NP_705842.2",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 316,
"cds_start": 82,
"cds_end": null,
"cds_length": 951,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 1162,
"mane_select": "ENST00000339764.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB13",
"gene_hgnc_id": 30718,
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"transcript": "ENST00000339764.6",
"protein_id": "ENSP00000344431.1",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 316,
"cds_start": 82,
"cds_end": null,
"cds_length": 951,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 1162,
"mane_select": "NM_153614.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB13",
"gene_hgnc_id": 30718,
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr",
"transcript": "NM_001441321.1",
"protein_id": "NP_001428250.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 262,
"cds_start": 82,
"cds_end": null,
"cds_length": 789,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 1000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB13",
"gene_hgnc_id": 30718,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Ala62Thr",
"transcript": "XM_011545004.4",
"protein_id": "XP_011543306.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 350,
"cds_start": 184,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB13",
"gene_hgnc_id": 30718,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Ala62Thr",
"transcript": "XM_011545005.3",
"protein_id": "XP_011543307.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 296,
"cds_start": 184,
"cds_end": null,
"cds_length": 891,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB13",
"gene_hgnc_id": 30718,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Ala62Thr",
"transcript": "XM_011545013.3",
"protein_id": "XP_011543315.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 246,
"cds_start": 184,
"cds_end": null,
"cds_length": 741,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DNAJB13",
"gene_hgnc_id": 30718,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Ala62Thr",
"transcript": "XM_011545014.3",
"protein_id": "XP_011543316.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 218,
"cds_start": 184,
"cds_end": null,
"cds_length": 657,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DNAJB13",
"gene_hgnc_id": 30718,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Ala62Thr",
"transcript": "XM_017017679.2",
"protein_id": "XP_016873168.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 218,
"cds_start": 184,
"cds_end": null,
"cds_length": 657,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1293,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB13",
"gene_hgnc_id": 30718,
"hgvs_c": "n.126G>A",
"hgvs_p": null,
"transcript": "ENST00000535730.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 594,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB13",
"gene_hgnc_id": 30718,
"hgvs_c": "n.685G>A",
"hgvs_p": null,
"transcript": "XR_949909.3",
"protein_id": null,
"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": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB13",
"gene_hgnc_id": 30718,
"hgvs_c": "c.-224G>A",
"hgvs_p": null,
"transcript": "NM_001377263.1",
"protein_id": "NP_001364192.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": -4,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB13",
"gene_hgnc_id": 30718,
"hgvs_c": "c.-224G>A",
"hgvs_p": null,
"transcript": "XM_011545009.4",
"protein_id": "XP_011543311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": -4,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB13",
"gene_hgnc_id": 30718,
"hgvs_c": "c.-93G>A",
"hgvs_p": null,
"transcript": "XM_017017675.2",
"protein_id": "XP_016873164.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": -4,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB13",
"gene_hgnc_id": 30718,
"hgvs_c": "c.-93G>A",
"hgvs_p": null,
"transcript": "XM_024448507.2",
"protein_id": "XP_024304275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": -4,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB13",
"gene_hgnc_id": 30718,
"hgvs_c": "c.-417G>A",
"hgvs_p": null,
"transcript": "XM_024448508.2",
"protein_id": "XP_024304276.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": -4,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB13",
"gene_hgnc_id": 30718,
"hgvs_c": "c.-286G>A",
"hgvs_p": null,
"transcript": "XM_024448509.2",
"protein_id": "XP_024304277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": -4,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB13",
"gene_hgnc_id": 30718,
"hgvs_c": "c.-97G>A",
"hgvs_p": null,
"transcript": "XM_024448510.2",
"protein_id": "XP_024304278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": -4,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB13",
"gene_hgnc_id": 30718,
"hgvs_c": "c.-93G>A",
"hgvs_p": null,
"transcript": "XM_047426915.1",
"protein_id": "XP_047282871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": -4,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAJB13",
"gene_hgnc_id": 30718,
"dbsnp": "rs1950819983",
"frequency_reference_population": 0.0000020522502,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205225,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9646710157394409,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.541,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6533,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.785,
"phylop100way_prediction": "Pathogenic",
"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_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_153614.4",
"gene_symbol": "DNAJB13",
"hgnc_id": 30718,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.82G>A",
"hgvs_p": "p.Ala28Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}