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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: 7-780059-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=780059&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "DNAAF5",
"hgnc_id": 26013,
"hgvs_c": "c.2346C>G",
"hgvs_p": "p.Tyr782*",
"inheritance_mode": "AR,AD",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_017802.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Moderate",
"acmg_score": 10,
"allele_count_reference_population": 59,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"chr": "7",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Primary ciliary dyskinesia",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03200000151991844,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 855,
"aa_ref": "Y",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3412,
"cdna_start": 2368,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2346,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_017802.4",
"gene_hgnc_id": 26013,
"gene_symbol": "DNAAF5",
"hgvs_c": "c.2346C>G",
"hgvs_p": "p.Tyr782*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000297440.11",
"protein_coding": true,
"protein_id": "NP_060272.3",
"strand": true,
"transcript": "NM_017802.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 855,
"aa_ref": "Y",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3412,
"cdna_start": 2368,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2346,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000297440.11",
"gene_hgnc_id": 26013,
"gene_symbol": "DNAAF5",
"hgvs_c": "c.2346C>G",
"hgvs_p": "p.Tyr782*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017802.4",
"protein_coding": true,
"protein_id": "ENSP00000297440.6",
"strand": true,
"transcript": "ENST00000297440.11",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 280,
"aa_ref": "Y",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 843,
"cds_start": 621,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000403952.3",
"gene_hgnc_id": 26013,
"gene_symbol": "DNAAF5",
"hgvs_c": "c.621C>G",
"hgvs_p": "p.Tyr207*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384884.3",
"strand": true,
"transcript": "ENST00000403952.3",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 882,
"aa_ref": "Y",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3488,
"cdna_start": 2446,
"cds_end": null,
"cds_length": 2649,
"cds_start": 2427,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000852634.1",
"gene_hgnc_id": 26013,
"gene_symbol": "DNAAF5",
"hgvs_c": "c.2427C>G",
"hgvs_p": "p.Tyr809*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522693.1",
"strand": true,
"transcript": "ENST00000852634.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 862,
"aa_ref": "Y",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3430,
"cdna_start": 2386,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2367,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000852633.1",
"gene_hgnc_id": 26013,
"gene_symbol": "DNAAF5",
"hgvs_c": "c.2367C>G",
"hgvs_p": "p.Tyr789*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522692.1",
"strand": true,
"transcript": "ENST00000852633.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 853,
"aa_ref": "Y",
"aa_start": 780,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2972,
"cdna_start": 2362,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2340,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000852635.1",
"gene_hgnc_id": 26013,
"gene_symbol": "DNAAF5",
"hgvs_c": "c.2340C>G",
"hgvs_p": "p.Tyr780*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522694.1",
"strand": true,
"transcript": "ENST00000852635.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 830,
"aa_ref": "Y",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3344,
"cdna_start": 2300,
"cds_end": null,
"cds_length": 2493,
"cds_start": 2271,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000913166.1",
"gene_hgnc_id": 26013,
"gene_symbol": "DNAAF5",
"hgvs_c": "c.2271C>G",
"hgvs_p": "p.Tyr757*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583225.1",
"strand": true,
"transcript": "ENST00000913166.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 712,
"aa_ref": "Y",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2992,
"cdna_start": 1948,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1917,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000852631.1",
"gene_hgnc_id": 26013,
"gene_symbol": "DNAAF5",
"hgvs_c": "c.1917C>G",
"hgvs_p": "p.Tyr639*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522690.1",
"strand": true,
"transcript": "ENST00000852631.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 656,
"aa_ref": "Y",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2350,
"cdna_start": 1750,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1749,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000440747.5",
"gene_hgnc_id": 26013,
"gene_symbol": "DNAAF5",
"hgvs_c": "c.1749C>G",
"hgvs_p": "p.Tyr583*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403165.1",
"strand": true,
"transcript": "ENST00000440747.5",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 602,
"aa_ref": "Y",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": 1602,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1587,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000972191.1",
"gene_hgnc_id": 26013,
"gene_symbol": "DNAAF5",
"hgvs_c": "c.1587C>G",
"hgvs_p": "p.Tyr529*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642250.1",
"strand": true,
"transcript": "ENST00000972191.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 791,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3227,
"cdna_start": null,
"cds_end": null,
"cds_length": 2376,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852632.1",
"gene_hgnc_id": 26013,
"gene_symbol": "DNAAF5",
"hgvs_c": "c.2239+4897C>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522691.1",
"strand": true,
"transcript": "ENST00000852632.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 648,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": null,
"cds_end": null,
"cds_length": 1947,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913167.1",
"gene_hgnc_id": 26013,
"gene_symbol": "DNAAF5",
"hgvs_c": "c.1810+4897C>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583226.1",
"strand": true,
"transcript": "ENST00000913167.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 791,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3220,
"cdna_start": null,
"cds_end": null,
"cds_length": 2376,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024446813.2",
"gene_hgnc_id": 26013,
"gene_symbol": "DNAAF5",
"hgvs_c": "c.2239+4897C>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024302581.1",
"strand": true,
"transcript": "XM_024446813.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 298,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000461576.1",
"gene_hgnc_id": 26013,
"gene_symbol": "DNAAF5",
"hgvs_c": "n.156C>G",
"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": "ENST00000461576.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3350,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NR_075098.2",
"gene_hgnc_id": 26013,
"gene_symbol": "DNAAF5",
"hgvs_c": "n.2306C>G",
"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": "NR_075098.2",
"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": 536,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000486546.1",
"gene_hgnc_id": 26013,
"gene_symbol": "DNAAF5",
"hgvs_c": "n.*75C>G",
"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": "ENST00000486546.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs950490534",
"effect": "stop_gained",
"frequency_reference_population": 0.000036551974,
"gene_hgnc_id": 26013,
"gene_symbol": "DNAAF5",
"gnomad_exomes_ac": 57,
"gnomad_exomes_af": 0.0000389913,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131342,
"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": -0.37,
"pos": 780059,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.032,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_017802.4"
}
]
}