← Back to variant description
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: 6-38883020-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=38883020&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 38883020,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000327475.11",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.7969T>A",
"hgvs_p": "p.Phe2657Ile",
"transcript": "NM_001206927.2",
"protein_id": "NP_001193856.1",
"transcript_support_level": null,
"aa_start": 2657,
"aa_end": null,
"aa_length": 4707,
"cds_start": 7969,
"cds_end": null,
"cds_length": 14124,
"cdna_start": 8108,
"cdna_end": null,
"cdna_length": 14663,
"mane_select": "ENST00000327475.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.7969T>A",
"hgvs_p": "p.Phe2657Ile",
"transcript": "ENST00000327475.11",
"protein_id": "ENSP00000333363.7",
"transcript_support_level": 5,
"aa_start": 2657,
"aa_end": null,
"aa_length": 4707,
"cds_start": 7969,
"cds_end": null,
"cds_length": 14124,
"cdna_start": 8108,
"cdna_end": null,
"cdna_length": 14663,
"mane_select": "NM_001206927.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 92,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.7318T>A",
"hgvs_p": "p.Phe2440Ile",
"transcript": "NM_001371.4",
"protein_id": "NP_001362.2",
"transcript_support_level": null,
"aa_start": 2440,
"aa_end": null,
"aa_length": 4490,
"cds_start": 7318,
"cds_end": null,
"cds_length": 13473,
"cdna_start": 8023,
"cdna_end": null,
"cdna_length": 14578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 91,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.7318T>A",
"hgvs_p": "p.Phe2440Ile",
"transcript": "ENST00000359357.7",
"protein_id": "ENSP00000352312.3",
"transcript_support_level": 2,
"aa_start": 2440,
"aa_end": null,
"aa_length": 4490,
"cds_start": 7318,
"cds_end": null,
"cds_length": 13473,
"cdna_start": 7572,
"cdna_end": null,
"cdna_length": 13864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 82,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.7969T>A",
"hgvs_p": "p.Phe2657Ile",
"transcript": "ENST00000449981.6",
"protein_id": "ENSP00000415331.2",
"transcript_support_level": 5,
"aa_start": 2657,
"aa_end": null,
"aa_length": 4188,
"cds_start": 7969,
"cds_end": null,
"cds_length": 12567,
"cdna_start": 7969,
"cdna_end": null,
"cdna_length": 12940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 92,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.7906T>A",
"hgvs_p": "p.Phe2636Ile",
"transcript": "XM_011514318.3",
"protein_id": "XP_011512620.1",
"transcript_support_level": null,
"aa_start": 2636,
"aa_end": null,
"aa_length": 4686,
"cds_start": 7906,
"cds_end": null,
"cds_length": 14061,
"cdna_start": 8045,
"cdna_end": null,
"cdna_length": 14600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 92,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.7861T>A",
"hgvs_p": "p.Phe2621Ile",
"transcript": "XM_011514319.3",
"protein_id": "XP_011512621.1",
"transcript_support_level": null,
"aa_start": 2621,
"aa_end": null,
"aa_length": 4671,
"cds_start": 7861,
"cds_end": null,
"cds_length": 14016,
"cdna_start": 8000,
"cdna_end": null,
"cdna_length": 14555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 91,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.7732T>A",
"hgvs_p": "p.Phe2578Ile",
"transcript": "XM_011514320.3",
"protein_id": "XP_011512622.1",
"transcript_support_level": null,
"aa_start": 2578,
"aa_end": null,
"aa_length": 4628,
"cds_start": 7732,
"cds_end": null,
"cds_length": 13887,
"cdna_start": 7871,
"cdna_end": null,
"cdna_length": 14426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.7969T>A",
"hgvs_p": "p.Phe2657Ile",
"transcript": "XM_017010325.2",
"protein_id": "XP_016865814.1",
"transcript_support_level": null,
"aa_start": 2657,
"aa_end": null,
"aa_length": 4459,
"cds_start": 7969,
"cds_end": null,
"cds_length": 13380,
"cdna_start": 8108,
"cdna_end": null,
"cdna_length": 14479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.7969T>A",
"hgvs_p": "p.Phe2657Ile",
"transcript": "XM_017010326.2",
"protein_id": "XP_016865815.1",
"transcript_support_level": null,
"aa_start": 2657,
"aa_end": null,
"aa_length": 4081,
"cds_start": 7969,
"cds_end": null,
"cds_length": 12246,
"cdna_start": 8108,
"cdna_end": null,
"cdna_length": 12466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.7969T>A",
"hgvs_p": "p.Phe2657Ile",
"transcript": "XM_017010327.2",
"protein_id": "XP_016865816.1",
"transcript_support_level": null,
"aa_start": 2657,
"aa_end": null,
"aa_length": 2857,
"cds_start": 7969,
"cds_end": null,
"cds_length": 8574,
"cdna_start": 8108,
"cdna_end": null,
"cdna_length": 8835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "c.7731T>A",
"hgvs_p": "p.Ile2577Ile",
"transcript": "XM_047418259.1",
"protein_id": "XP_047274215.1",
"transcript_support_level": null,
"aa_start": 2577,
"aa_end": null,
"aa_length": 2578,
"cds_start": 7731,
"cds_end": null,
"cds_length": 7737,
"cdna_start": 7870,
"cdna_end": null,
"cdna_length": 7988,
"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": 54,
"exon_rank_end": null,
"exon_count": 94,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"hgvs_c": "n.8108T>A",
"hgvs_p": null,
"transcript": "XR_926078.3",
"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": 14253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAH8",
"gene_hgnc_id": 2952,
"dbsnp": "rs372849137",
"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": 0.7704602479934692,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.539,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7573,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.955,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000327475.11",
"gene_symbol": "DNAH8",
"hgnc_id": 2952,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.7969T>A",
"hgvs_p": "p.Phe2657Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}