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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: 8-51408683-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=51408683&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 51408683,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000356297.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.2941A>T",
"hgvs_p": "p.Met981Leu",
"transcript": "NM_144651.5",
"protein_id": "NP_653252.4",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 1463,
"cds_start": 2941,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 3042,
"cdna_end": null,
"cdna_length": 4807,
"mane_select": "ENST00000356297.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.2941A>T",
"hgvs_p": "p.Met981Leu",
"transcript": "ENST00000356297.5",
"protein_id": "ENSP00000348645.4",
"transcript_support_level": 1,
"aa_start": 981,
"aa_end": null,
"aa_length": 1463,
"cds_start": 2941,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 3042,
"cdna_end": null,
"cdna_length": 4807,
"mane_select": "NM_144651.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.295A>T",
"hgvs_p": "p.Met99Leu",
"transcript": "ENST00000522933.5",
"protein_id": "ENSP00000428114.1",
"transcript_support_level": 5,
"aa_start": 99,
"aa_end": null,
"aa_length": 536,
"cds_start": 295,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.2869A>T",
"hgvs_p": "p.Met957Leu",
"transcript": "XM_047421364.1",
"protein_id": "XP_047277320.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1439,
"cds_start": 2869,
"cds_end": null,
"cds_length": 4320,
"cdna_start": 2970,
"cdna_end": null,
"cdna_length": 4735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.2869A>T",
"hgvs_p": "p.Met957Leu",
"transcript": "XM_047421365.1",
"protein_id": "XP_047277321.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1439,
"cds_start": 2869,
"cds_end": null,
"cds_length": 4320,
"cdna_start": 2970,
"cdna_end": null,
"cdna_length": 4735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.2653A>T",
"hgvs_p": "p.Met885Leu",
"transcript": "XM_047421366.1",
"protein_id": "XP_047277322.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1367,
"cds_start": 2653,
"cds_end": null,
"cds_length": 4104,
"cdna_start": 2754,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.2536A>T",
"hgvs_p": "p.Met846Leu",
"transcript": "XM_011517458.3",
"protein_id": "XP_011515760.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1328,
"cds_start": 2536,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 2716,
"cdna_end": null,
"cdna_length": 4481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.2536A>T",
"hgvs_p": "p.Met846Leu",
"transcript": "XM_017013041.2",
"protein_id": "XP_016868530.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1328,
"cds_start": 2536,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 2679,
"cdna_end": null,
"cdna_length": 4444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.2536A>T",
"hgvs_p": "p.Met846Leu",
"transcript": "XM_047421367.1",
"protein_id": "XP_047277323.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1328,
"cds_start": 2536,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3205,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.1096A>T",
"hgvs_p": "p.Met366Leu",
"transcript": "XM_005251168.4",
"protein_id": "XP_005251225.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 848,
"cds_start": 1096,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 2954,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "n.739A>T",
"hgvs_p": null,
"transcript": "ENST00000522628.5",
"protein_id": "ENSP00000429855.1",
"transcript_support_level": 2,
"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": 2258,
"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": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "n.3042A>T",
"hgvs_p": null,
"transcript": "XR_007060701.1",
"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": 4562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"dbsnp": "rs2977020",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.92532e-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": 0.111509770154953,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.127,
"revel_prediction": "Benign",
"alphamissense_score": 0.16,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.06,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000356297.5",
"gene_symbol": "PXDNL",
"hgnc_id": 26359,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2941A>T",
"hgvs_p": "p.Met981Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}