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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: 13-102789037-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=102789037&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 102789037,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024089.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGLUT2",
"gene_hgnc_id": 19350,
"hgvs_c": "c.1268A>T",
"hgvs_p": "p.Lys423Ile",
"transcript": "NM_024089.3",
"protein_id": "NP_076994.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 502,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": "ENST00000376004.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGLUT2",
"gene_hgnc_id": 19350,
"hgvs_c": "c.1268A>T",
"hgvs_p": "p.Lys423Ile",
"transcript": "ENST00000376004.5",
"protein_id": "ENSP00000365172.4",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 502,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": "NM_024089.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGLUT2",
"gene_hgnc_id": 19350,
"hgvs_c": "c.1268A>T",
"hgvs_p": "p.Lys423Ile",
"transcript": "ENST00000706516.1",
"protein_id": "ENSP00000516427.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 521,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 3792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGLUT2",
"gene_hgnc_id": 19350,
"hgvs_c": "c.1268A>T",
"hgvs_p": "p.Lys423Ile",
"transcript": "NM_001439010.1",
"protein_id": "NP_001425939.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 466,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGLUT2",
"gene_hgnc_id": 19350,
"hgvs_c": "c.1268A>T",
"hgvs_p": "p.Lys423Ile",
"transcript": "ENST00000706521.1",
"protein_id": "ENSP00000516430.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 466,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGLUT2",
"gene_hgnc_id": 19350,
"hgvs_c": "c.611A>T",
"hgvs_p": "p.Lys204Ile",
"transcript": "NM_001318732.2",
"protein_id": "NP_001305661.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 283,
"cds_start": 611,
"cds_end": null,
"cds_length": 852,
"cdna_start": 1717,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGLUT2",
"gene_hgnc_id": 19350,
"hgvs_c": "c.611A>T",
"hgvs_p": "p.Lys204Ile",
"transcript": "XM_047430604.1",
"protein_id": "XP_047286560.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 283,
"cds_start": 611,
"cds_end": null,
"cds_length": 852,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 1274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGLUT2",
"gene_hgnc_id": 19350,
"hgvs_c": "n.1631A>T",
"hgvs_p": null,
"transcript": "ENST00000460338.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGLUT2",
"gene_hgnc_id": 19350,
"hgvs_c": "n.3501A>T",
"hgvs_p": null,
"transcript": "ENST00000486540.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 5626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGLUT2",
"gene_hgnc_id": 19350,
"hgvs_c": "n.1580A>T",
"hgvs_p": null,
"transcript": "ENST00000706517.1",
"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": 5204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGLUT2",
"gene_hgnc_id": 19350,
"hgvs_c": "n.3221A>T",
"hgvs_p": null,
"transcript": "ENST00000706518.1",
"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": 6834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGLUT2",
"gene_hgnc_id": 19350,
"hgvs_c": "n.*1160A>T",
"hgvs_p": null,
"transcript": "ENST00000706519.1",
"protein_id": "ENSP00000516428.1",
"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": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGLUT2",
"gene_hgnc_id": 19350,
"hgvs_c": "n.*688A>T",
"hgvs_p": null,
"transcript": "ENST00000706520.1",
"protein_id": "ENSP00000516429.1",
"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": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "POGLUT2",
"gene_hgnc_id": 19350,
"hgvs_c": "n.1682A>T",
"hgvs_p": null,
"transcript": "ENST00000706522.1",
"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": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGLUT2",
"gene_hgnc_id": 19350,
"hgvs_c": "n.*1160A>T",
"hgvs_p": null,
"transcript": "ENST00000706519.1",
"protein_id": "ENSP00000516428.1",
"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": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGLUT2",
"gene_hgnc_id": 19350,
"hgvs_c": "n.*688A>T",
"hgvs_p": null,
"transcript": "ENST00000706520.1",
"protein_id": "ENSP00000516429.1",
"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": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POGLUT2",
"gene_hgnc_id": 19350,
"hgvs_c": "n.260-1114A>T",
"hgvs_p": null,
"transcript": "ENST00000484943.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POGLUT2",
"gene_hgnc_id": 19350,
"dbsnp": "rs990693871",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32623863220214844,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.1291,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.23,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024089.3",
"gene_symbol": "POGLUT2",
"hgnc_id": 19350,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1268A>T",
"hgvs_p": "p.Lys423Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}