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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: 14-74066773-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74066773&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ALDH6A1",
"hgnc_id": 7179,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_005589.4",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "BBOF1",
"hgnc_id": 19855,
"hgvs_c": "n.1379+9515G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "ENST00000492026.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 35,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "14",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Inborn genetic diseases,Methylmalonate semialdehyde dehydrogenase deficiency,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:2 US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 535,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5462,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_005589.4",
"gene_hgnc_id": 7179,
"gene_symbol": "ALDH6A1",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000553458.6",
"protein_coding": true,
"protein_id": "NP_005580.1",
"strand": false,
"transcript": "NM_005589.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 535,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5462,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000553458.6",
"gene_hgnc_id": 7179,
"gene_symbol": "ALDH6A1",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005589.4",
"protein_coding": true,
"protein_id": "ENSP00000450436.1",
"strand": false,
"transcript": "ENST00000553458.6",
"transcript_support_level": 1
},
{
"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": 2221,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000554501.5",
"gene_hgnc_id": 7179,
"gene_symbol": "ALDH6A1",
"hgvs_c": "n.1374C>T",
"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": "ENST00000554501.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 534,
"aa_ref": "R",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 1196,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1153,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000931795.1",
"gene_hgnc_id": 7179,
"gene_symbol": "ALDH6A1",
"hgvs_c": "c.1153C>T",
"hgvs_p": "p.Arg385*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601854.1",
"strand": false,
"transcript": "ENST00000931795.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 530,
"aa_ref": "R",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1834,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1141,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000901413.1",
"gene_hgnc_id": 7179,
"gene_symbol": "ALDH6A1",
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571472.1",
"strand": false,
"transcript": "ENST00000901413.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5423,
"cdna_start": 1176,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1117,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001278593.2",
"gene_hgnc_id": 7179,
"gene_symbol": "ALDH6A1",
"hgvs_c": "c.1117C>T",
"hgvs_p": "p.Arg373*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265522.1",
"strand": false,
"transcript": "NM_001278593.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1869,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1117,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000350259.8",
"gene_hgnc_id": 7179,
"gene_symbol": "ALDH6A1",
"hgvs_c": "c.1117C>T",
"hgvs_p": "p.Arg373*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342564.4",
"strand": false,
"transcript": "ENST00000350259.8",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 519,
"aa_ref": "R",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2051,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1108,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000901410.1",
"gene_hgnc_id": 7179,
"gene_symbol": "ALDH6A1",
"hgvs_c": "c.1108C>T",
"hgvs_p": "p.Arg370*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571469.1",
"strand": false,
"transcript": "ENST00000901410.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3554,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000901407.1",
"gene_hgnc_id": 7179,
"gene_symbol": "ALDH6A1",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571466.1",
"strand": false,
"transcript": "ENST00000901407.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 431,
"aa_ref": "R",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1786,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1296,
"cds_start": 844,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000901411.1",
"gene_hgnc_id": 7179,
"gene_symbol": "ALDH6A1",
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571470.1",
"strand": false,
"transcript": "ENST00000901411.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 381,
"aa_ref": "R",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5625,
"cdna_start": 1378,
"cds_end": null,
"cds_length": 1146,
"cds_start": 694,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001278594.2",
"gene_hgnc_id": 7179,
"gene_symbol": "ALDH6A1",
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Arg232*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265523.1",
"strand": false,
"transcript": "NM_001278594.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 374,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1605,
"cdna_start": 879,
"cds_end": null,
"cds_length": 1125,
"cds_start": 853,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000901412.1",
"gene_hgnc_id": 7179,
"gene_symbol": "ALDH6A1",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571471.1",
"strand": false,
"transcript": "ENST00000901412.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 367,
"aa_ref": "R",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1104,
"cds_start": 652,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000901408.1",
"gene_hgnc_id": 7179,
"gene_symbol": "ALDH6A1",
"hgvs_c": "c.652C>T",
"hgvs_p": "p.Arg218*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571467.1",
"strand": false,
"transcript": "ENST00000901408.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 288,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1363,
"cdna_start": 457,
"cds_end": null,
"cds_length": 867,
"cds_start": 415,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901409.1",
"gene_hgnc_id": 7179,
"gene_symbol": "ALDH6A1",
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Arg139*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571468.1",
"strand": false,
"transcript": "ENST00000901409.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 253,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1247,
"cdna_start": 530,
"cds_end": null,
"cds_length": 762,
"cds_start": 490,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960461.1",
"gene_hgnc_id": 7179,
"gene_symbol": "ALDH6A1",
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630520.1",
"strand": false,
"transcript": "ENST00000960461.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 252,
"aa_ref": "R",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 703,
"cds_end": null,
"cds_length": 759,
"cds_start": 307,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000555126.1",
"gene_hgnc_id": 7179,
"gene_symbol": "ALDH6A1",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452081.1",
"strand": false,
"transcript": "ENST00000555126.1",
"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": 1715,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000492026.4",
"gene_hgnc_id": 19855,
"gene_symbol": "BBOF1",
"hgvs_c": "n.1379+9515G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000492026.4",
"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": 2050,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007064048.1",
"gene_hgnc_id": 19855,
"gene_symbol": "BBOF1",
"hgvs_c": "n.1816+9515G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007064048.1",
"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": 1942,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007064049.1",
"gene_hgnc_id": 19855,
"gene_symbol": "BBOF1",
"hgvs_c": "n.1708+9515G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007064049.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs781767219",
"effect": "stop_gained",
"frequency_reference_population": 0.000021689715,
"gene_hgnc_id": 7179,
"gene_symbol": "ALDH6A1",
"gnomad_exomes_ac": 33,
"gnomad_exomes_af": 0.0000225744,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131725,
"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": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Methylmalonate semialdehyde dehydrogenase deficiency|Inborn genetic diseases|not specified|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.732,
"pos": 74066773,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_005589.4"
}
]
}