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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: 19-5692181-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5692181&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LONP1",
"hgnc_id": 9479,
"hgvs_c": "c.2731G>C",
"hgvs_p": "p.Val911Leu",
"inheritance_mode": "AD,AR,XL",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_004793.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_score": -6,
"allele_count_reference_population": 29,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1369,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "19",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.060022830963134766,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 959,
"aa_ref": "V",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3092,
"cdna_start": 2745,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2731,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_004793.4",
"gene_hgnc_id": 9479,
"gene_symbol": "LONP1",
"hgvs_c": "c.2731G>C",
"hgvs_p": "p.Val911Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360614.8",
"protein_coding": true,
"protein_id": "NP_004784.2",
"strand": false,
"transcript": "NM_004793.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 959,
"aa_ref": "V",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3092,
"cdna_start": 2745,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2731,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000360614.8",
"gene_hgnc_id": 9479,
"gene_symbol": "LONP1",
"hgvs_c": "c.2731G>C",
"hgvs_p": "p.Val911Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004793.4",
"protein_coding": true,
"protein_id": "ENSP00000353826.2",
"strand": false,
"transcript": "ENST00000360614.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 829,
"aa_ref": "V",
"aa_start": 781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": 2400,
"cds_end": null,
"cds_length": 2490,
"cds_start": 2341,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000590729.5",
"gene_hgnc_id": 9479,
"gene_symbol": "LONP1",
"hgvs_c": "c.2341G>C",
"hgvs_p": "p.Val781Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465139.1",
"strand": false,
"transcript": "ENST00000590729.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1021,
"aa_ref": "V",
"aa_start": 973,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3276,
"cdna_start": 2931,
"cds_end": null,
"cds_length": 3066,
"cds_start": 2917,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000958482.1",
"gene_hgnc_id": 9479,
"gene_symbol": "LONP1",
"hgvs_c": "c.2917G>C",
"hgvs_p": "p.Val973Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628541.1",
"strand": false,
"transcript": "ENST00000958482.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1008,
"aa_ref": "V",
"aa_start": 960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3236,
"cdna_start": 2892,
"cds_end": null,
"cds_length": 3027,
"cds_start": 2878,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000877980.1",
"gene_hgnc_id": 9479,
"gene_symbol": "LONP1",
"hgvs_c": "c.2878G>C",
"hgvs_p": "p.Val960Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548039.1",
"strand": false,
"transcript": "ENST00000877980.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 958,
"aa_ref": "V",
"aa_start": 910,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3089,
"cdna_start": 2742,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2728,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000913306.1",
"gene_hgnc_id": 9479,
"gene_symbol": "LONP1",
"hgvs_c": "c.2728G>C",
"hgvs_p": "p.Val910Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583365.1",
"strand": false,
"transcript": "ENST00000913306.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 895,
"aa_ref": "V",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2900,
"cdna_start": 2553,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2539,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001276479.2",
"gene_hgnc_id": 9479,
"gene_symbol": "LONP1",
"hgvs_c": "c.2539G>C",
"hgvs_p": "p.Val847Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001263408.1",
"strand": false,
"transcript": "NM_001276479.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 895,
"aa_ref": "V",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": 2572,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2539,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000593119.5",
"gene_hgnc_id": 9479,
"gene_symbol": "LONP1",
"hgvs_c": "c.2539G>C",
"hgvs_p": "p.Val847Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468541.1",
"strand": false,
"transcript": "ENST00000593119.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 879,
"aa_ref": "V",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": 2505,
"cds_end": null,
"cds_length": 2640,
"cds_start": 2491,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000877979.1",
"gene_hgnc_id": 9479,
"gene_symbol": "LONP1",
"hgvs_c": "c.2491G>C",
"hgvs_p": "p.Val831Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548038.1",
"strand": false,
"transcript": "ENST00000877979.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 845,
"aa_ref": "V",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2882,
"cdna_start": 2536,
"cds_end": null,
"cds_length": 2538,
"cds_start": 2389,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000585374.5",
"gene_hgnc_id": 9479,
"gene_symbol": "LONP1",
"hgvs_c": "c.2389G>C",
"hgvs_p": "p.Val797Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465585.1",
"strand": false,
"transcript": "ENST00000585374.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 763,
"aa_ref": "V",
"aa_start": 715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2883,
"cdna_start": 2536,
"cds_end": null,
"cds_length": 2292,
"cds_start": 2143,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001276480.1",
"gene_hgnc_id": 9479,
"gene_symbol": "LONP1",
"hgvs_c": "c.2143G>C",
"hgvs_p": "p.Val715Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001263409.1",
"strand": false,
"transcript": "NM_001276480.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 763,
"aa_ref": "V",
"aa_start": 715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3002,
"cdna_start": 2656,
"cds_end": null,
"cds_length": 2292,
"cds_start": 2143,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000540670.6",
"gene_hgnc_id": 9479,
"gene_symbol": "LONP1",
"hgvs_c": "c.2143G>C",
"hgvs_p": "p.Val715Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441523.1",
"strand": false,
"transcript": "ENST00000540670.6",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 263,
"aa_ref": "R",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 793,
"cdna_start": 605,
"cds_end": null,
"cds_length": 793,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000589473.1",
"gene_hgnc_id": 9479,
"gene_symbol": "LONP1",
"hgvs_c": "c.605G>C",
"hgvs_p": "p.Arg202Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468379.1",
"strand": false,
"transcript": "ENST00000589473.1",
"transcript_support_level": 3
},
{
"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": 2816,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000587552.5",
"gene_hgnc_id": 9479,
"gene_symbol": "LONP1",
"hgvs_c": "n.2469G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000587552.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2884,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000590558.5",
"gene_hgnc_id": 9479,
"gene_symbol": "LONP1",
"hgvs_c": "n.*1980G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000467808.1",
"strand": false,
"transcript": "ENST00000590558.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2883,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NR_076392.2",
"gene_hgnc_id": 9479,
"gene_symbol": "LONP1",
"hgvs_c": "n.2536G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_076392.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2884,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000590558.5",
"gene_hgnc_id": 9479,
"gene_symbol": "LONP1",
"hgvs_c": "n.*1980G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000467808.1",
"strand": false,
"transcript": "ENST00000590558.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1062373",
"effect": "missense_variant",
"frequency_reference_population": 0.000017971166,
"gene_hgnc_id": 9479,
"gene_symbol": "LONP1",
"gnomad_exomes_ac": 27,
"gnomad_exomes_af": 0.0000184741,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131416,
"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": "Likely benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.539,
"pos": 5692181,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.092,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.11999999731779099,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.12,
"transcript": "NM_004793.4"
}
]
}