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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: 6-38883027-T-TAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=38883027&ref=T&alt=TAG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "DNAH8",
"hgnc_id": 2952,
"hgvs_c": "c.7978_7979dupGA",
"hgvs_p": "p.Asp2660fs",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_001206927.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Primary ciliary dyskinesia",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 4707,
"aa_ref": "D",
"aa_start": 2660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14663,
"cdna_start": 8119,
"cds_end": null,
"cds_length": 14124,
"cds_start": 7980,
"consequences": [
"frameshift_variant"
],
"exon_count": 93,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "NM_001206927.2",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.7978_7979dupGA",
"hgvs_p": "p.Asp2660fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000327475.11",
"protein_coding": true,
"protein_id": "NP_001193856.1",
"strand": true,
"transcript": "NM_001206927.2",
"transcript_support_level": null
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 4707,
"aa_ref": "D",
"aa_start": 2660,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14663,
"cdna_start": 8119,
"cds_end": null,
"cds_length": 14124,
"cds_start": 7980,
"consequences": [
"frameshift_variant"
],
"exon_count": 93,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "ENST00000327475.11",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.7978_7979dupGA",
"hgvs_p": "p.Asp2660fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001206927.2",
"protein_coding": true,
"protein_id": "ENSP00000333363.7",
"strand": true,
"transcript": "ENST00000327475.11",
"transcript_support_level": 5
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 4490,
"aa_ref": "D",
"aa_start": 2443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14578,
"cdna_start": 8034,
"cds_end": null,
"cds_length": 13473,
"cds_start": 7329,
"consequences": [
"frameshift_variant"
],
"exon_count": 92,
"exon_rank": 53,
"exon_rank_end": null,
"feature": "NM_001371.4",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.7327_7328dupGA",
"hgvs_p": "p.Asp2443fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362.2",
"strand": true,
"transcript": "NM_001371.4",
"transcript_support_level": null
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 4490,
"aa_ref": "D",
"aa_start": 2443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13864,
"cdna_start": 7583,
"cds_end": null,
"cds_length": 13473,
"cds_start": 7329,
"consequences": [
"frameshift_variant"
],
"exon_count": 91,
"exon_rank": 52,
"exon_rank_end": null,
"feature": "ENST00000359357.7",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.7327_7328dupGA",
"hgvs_p": "p.Asp2443fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352312.3",
"strand": true,
"transcript": "ENST00000359357.7",
"transcript_support_level": 2
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 4188,
"aa_ref": "D",
"aa_start": 2660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12940,
"cdna_start": 7980,
"cds_end": null,
"cds_length": 12567,
"cds_start": 7980,
"consequences": [
"frameshift_variant"
],
"exon_count": 82,
"exon_rank": 53,
"exon_rank_end": null,
"feature": "ENST00000449981.6",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.7978_7979dupGA",
"hgvs_p": "p.Asp2660fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415331.2",
"strand": true,
"transcript": "ENST00000449981.6",
"transcript_support_level": 5
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 4686,
"aa_ref": "D",
"aa_start": 2639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14600,
"cdna_start": 8056,
"cds_end": null,
"cds_length": 14061,
"cds_start": 7917,
"consequences": [
"frameshift_variant"
],
"exon_count": 92,
"exon_rank": 53,
"exon_rank_end": null,
"feature": "XM_011514318.3",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.7915_7916dupGA",
"hgvs_p": "p.Asp2639fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512620.1",
"strand": true,
"transcript": "XM_011514318.3",
"transcript_support_level": null
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 4671,
"aa_ref": "D",
"aa_start": 2624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14555,
"cdna_start": 8011,
"cds_end": null,
"cds_length": 14016,
"cds_start": 7872,
"consequences": [
"frameshift_variant"
],
"exon_count": 92,
"exon_rank": 53,
"exon_rank_end": null,
"feature": "XM_011514319.3",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.7870_7871dupGA",
"hgvs_p": "p.Asp2624fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512621.1",
"strand": true,
"transcript": "XM_011514319.3",
"transcript_support_level": null
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 4628,
"aa_ref": "D",
"aa_start": 2581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14426,
"cdna_start": 7882,
"cds_end": null,
"cds_length": 13887,
"cds_start": 7743,
"consequences": [
"frameshift_variant"
],
"exon_count": 91,
"exon_rank": 52,
"exon_rank_end": null,
"feature": "XM_011514320.3",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.7741_7742dupGA",
"hgvs_p": "p.Asp2581fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512622.1",
"strand": true,
"transcript": "XM_011514320.3",
"transcript_support_level": null
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 4459,
"aa_ref": "D",
"aa_start": 2660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14479,
"cdna_start": 8119,
"cds_end": null,
"cds_length": 13380,
"cds_start": 7980,
"consequences": [
"frameshift_variant"
],
"exon_count": 89,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "XM_017010325.2",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.7978_7979dupGA",
"hgvs_p": "p.Asp2660fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865814.1",
"strand": true,
"transcript": "XM_017010325.2",
"transcript_support_level": null
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 4081,
"aa_ref": "D",
"aa_start": 2660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12466,
"cdna_start": 8119,
"cds_end": null,
"cds_length": 12246,
"cds_start": 7980,
"consequences": [
"frameshift_variant"
],
"exon_count": 81,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "XM_017010326.2",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.7978_7979dupGA",
"hgvs_p": "p.Asp2660fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865815.1",
"strand": true,
"transcript": "XM_017010326.2",
"transcript_support_level": null
},
{
"aa_alt": "E?",
"aa_end": null,
"aa_length": 2857,
"aa_ref": "D",
"aa_start": 2660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8835,
"cdna_start": 8119,
"cds_end": null,
"cds_length": 8574,
"cds_start": 7980,
"consequences": [
"frameshift_variant"
],
"exon_count": 59,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "XM_017010327.2",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.7978_7979dupGA",
"hgvs_p": "p.Asp2660fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865816.1",
"strand": true,
"transcript": "XM_017010327.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2578,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7988,
"cdna_start": null,
"cds_end": null,
"cds_length": 7737,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 54,
"exon_rank": 53,
"exon_rank_end": null,
"feature": "XM_047418259.1",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "c.*3_*4dupGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274215.1",
"strand": true,
"transcript": "XM_047418259.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 14253,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 94,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "XR_926078.3",
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"hgvs_c": "n.8117_8118dupGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_926078.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs753496815",
"effect": "frameshift_variant",
"frequency_reference_population": 0.000003749536,
"gene_hgnc_id": 2952,
"gene_symbol": "DNAH8",
"gnomad_exomes_ac": 5,
"gnomad_exomes_af": 0.00000345314,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000656849,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Primary ciliary dyskinesia",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.61,
"pos": 38883027,
"ref": "T",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001206927.2"
}
]
}