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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: 19-51347006-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51347006&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ETFB",
"hgnc_id": 3482,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"inheritance_mode": "AR",
"pathogenic_score": 14,
"score": 14,
"transcript": "NM_001014763.1",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000267984",
"hgnc_id": null,
"hgvs_c": "n.78+1760C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 12,
"score": 12,
"transcript": "ENST00000600974.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate,PP5_Very_Strong",
"acmg_score": 14,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.5209,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.43,
"chr": "19",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Glutaric acidemia IIb,Multiple acyl-CoA dehydrogenase deficiency,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8445038795471191,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 255,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 872,
"cdna_start": 553,
"cds_end": null,
"cds_length": 768,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001985.3",
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"hgvs_c": "c.491G>A",
"hgvs_p": "p.Arg164Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000309244.9",
"protein_coding": true,
"protein_id": "NP_001976.1",
"strand": false,
"transcript": "NM_001985.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 255,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 872,
"cdna_start": 553,
"cds_end": null,
"cds_length": 768,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000309244.9",
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"hgvs_c": "c.491G>A",
"hgvs_p": "p.Arg164Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001985.3",
"protein_coding": true,
"protein_id": "ENSP00000311930.3",
"strand": false,
"transcript": "ENST00000309244.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 346,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3551,
"cdna_start": 3232,
"cds_end": null,
"cds_length": 1041,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000354232.8",
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346173.3",
"strand": false,
"transcript": "ENST00000354232.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 346,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1301,
"cdna_start": 968,
"cds_end": null,
"cds_length": 1041,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001014763.1",
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001014763.1",
"strand": false,
"transcript": "NM_001014763.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 280,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 945,
"cdna_start": 628,
"cds_end": null,
"cds_length": 843,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000903309.1",
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573368.1",
"strand": false,
"transcript": "ENST00000903309.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 258,
"aa_ref": "R",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 880,
"cdna_start": 562,
"cds_end": null,
"cds_length": 777,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903308.1",
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573367.1",
"strand": false,
"transcript": "ENST00000903308.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 254,
"aa_ref": "R",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 897,
"cdna_start": 580,
"cds_end": null,
"cds_length": 765,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903304.1",
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573363.1",
"strand": false,
"transcript": "ENST00000903304.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 252,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 862,
"cdna_start": 553,
"cds_end": null,
"cds_length": 759,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903307.1",
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"hgvs_c": "c.491G>A",
"hgvs_p": "p.Arg164Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573366.1",
"strand": false,
"transcript": "ENST00000903307.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 251,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 824,
"cdna_start": 518,
"cds_end": null,
"cds_length": 756,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903310.1",
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"hgvs_c": "c.491G>A",
"hgvs_p": "p.Arg164Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573369.1",
"strand": false,
"transcript": "ENST00000903310.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 249,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 855,
"cdna_start": 536,
"cds_end": null,
"cds_length": 750,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903306.1",
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573365.1",
"strand": false,
"transcript": "ENST00000903306.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 234,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 857,
"cdna_start": 539,
"cds_end": null,
"cds_length": 705,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000903303.1",
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Arg143Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573362.1",
"strand": false,
"transcript": "ENST00000903303.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 224,
"aa_ref": "R",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 848,
"cdna_start": 521,
"cds_end": null,
"cds_length": 675,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903302.1",
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573361.1",
"strand": false,
"transcript": "ENST00000903302.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 177,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 575,
"cdna_start": 372,
"cds_end": null,
"cds_length": 535,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000596253.1",
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469628.1",
"strand": false,
"transcript": "ENST00000596253.1",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 128,
"aa_ref": "R",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 485,
"cdna_start": 172,
"cds_end": null,
"cds_length": 387,
"cds_start": 110,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000970335.1",
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"hgvs_c": "c.110G>A",
"hgvs_p": "p.Arg37Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640394.1",
"strand": false,
"transcript": "ENST00000970335.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 218,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 854,
"cdna_start": 535,
"cds_end": null,
"cds_length": 657,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024451418.2",
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307186.1",
"strand": false,
"transcript": "XM_024451418.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 202,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 720,
"cdna_start": null,
"cds_end": null,
"cds_length": 609,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903305.1",
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"hgvs_c": "c.439-1625G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573364.1",
"strand": false,
"transcript": "ENST00000903305.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 181,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 607,
"cdna_start": null,
"cds_end": null,
"cds_length": 546,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922469.1",
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"hgvs_c": "c.376-1625G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592528.1",
"strand": false,
"transcript": "ENST00000922469.1",
"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": 2843,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000594361.1",
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"hgvs_c": "n.1525G>A",
"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": "ENST00000594361.1",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 219,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000600974.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000267984",
"hgvs_c": "n.78+1760C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000600974.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs104894677",
"effect": "missense_variant",
"frequency_reference_population": 0.000013134909,
"gene_hgnc_id": 3482,
"gene_symbol": "ETFB",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131349,
"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 pathogenic",
"phenotype_combined": "Multiple acyl-CoA dehydrogenase deficiency|Glutaric acidemia IIb|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.159,
"pos": 51347006,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.889,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001014763.1"
}
]
}