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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: 11-83210342-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=83210342&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ANKRD42",
"hgnc_id": 26752,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001433541.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000254551",
"hgnc_id": null,
"hgvs_c": "n.91-236G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000531869.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 20,
"alphamissense_prediction": null,
"alphamissense_score": 0.1343,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.01,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5468319058418274,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 527,
"aa_ref": "R",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3310,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1584,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001300975.2",
"gene_hgnc_id": 26752,
"gene_symbol": "ANKRD42",
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000533342.6",
"protein_coding": true,
"protein_id": "NP_001287904.1",
"strand": true,
"transcript": "NM_001300975.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 527,
"aa_ref": "R",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3310,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1584,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000533342.6",
"gene_hgnc_id": 26752,
"gene_symbol": "ANKRD42",
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001300975.2",
"protein_coding": true,
"protein_id": "ENSP00000435790.1",
"strand": true,
"transcript": "ENST00000533342.6",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 517,
"aa_ref": "R",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2514,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 1554,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000260047.10",
"gene_hgnc_id": 26752,
"gene_symbol": "ANKRD42",
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000260047.6",
"strand": true,
"transcript": "ENST00000260047.10",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 502,
"aa_ref": "R",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1887,
"cdna_start": 646,
"cds_end": null,
"cds_length": 1509,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000531895.5",
"gene_hgnc_id": 26752,
"gene_symbol": "ANKRD42",
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434666.1",
"strand": true,
"transcript": "ENST00000531895.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 230,
"aa_ref": "R",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 795,
"cds_end": null,
"cds_length": 693,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000526731.5",
"gene_hgnc_id": 26752,
"gene_symbol": "ANKRD42",
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433585.1",
"strand": true,
"transcript": "ENST00000526731.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 198,
"aa_ref": "R",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4066,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 597,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000393389.7",
"gene_hgnc_id": 26752,
"gene_symbol": "ANKRD42",
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377049.3",
"strand": true,
"transcript": "ENST00000393389.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 85,
"aa_ref": "R",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 954,
"cdna_start": 599,
"cds_end": null,
"cds_length": 258,
"cds_start": 34,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000528722.5",
"gene_hgnc_id": 26752,
"gene_symbol": "ANKRD42",
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432375.1",
"strand": true,
"transcript": "ENST00000528722.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 532,
"aa_ref": "R",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6732,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1599,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001433541.1",
"gene_hgnc_id": 26752,
"gene_symbol": "ANKRD42",
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001420470.1",
"strand": true,
"transcript": "NM_001433541.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 517,
"aa_ref": "R",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1554,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001300973.2",
"gene_hgnc_id": 26752,
"gene_symbol": "ANKRD42",
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287902.1",
"strand": true,
"transcript": "NM_001300973.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 502,
"aa_ref": "R",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1509,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001300972.2",
"gene_hgnc_id": 26752,
"gene_symbol": "ANKRD42",
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287901.1",
"strand": true,
"transcript": "NM_001300972.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 499,
"aa_ref": "R",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2734,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1500,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000860470.1",
"gene_hgnc_id": 26752,
"gene_symbol": "ANKRD42",
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530529.1",
"strand": true,
"transcript": "ENST00000860470.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 426,
"aa_ref": "R",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2981,
"cdna_start": 1304,
"cds_end": null,
"cds_length": 1281,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000934336.1",
"gene_hgnc_id": 26752,
"gene_symbol": "ANKRD42",
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604395.1",
"strand": true,
"transcript": "ENST00000934336.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 389,
"aa_ref": "R",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": 1248,
"cds_end": null,
"cds_length": 1170,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_182603.4",
"gene_hgnc_id": 26752,
"gene_symbol": "ANKRD42",
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_872409.2",
"strand": true,
"transcript": "NM_182603.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 389,
"aa_ref": "R",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2302,
"cdna_start": 451,
"cds_end": null,
"cds_length": 1170,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000393392.6",
"gene_hgnc_id": 26752,
"gene_symbol": "ANKRD42",
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377051.2",
"strand": true,
"transcript": "ENST00000393392.6",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 230,
"aa_ref": "R",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3767,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 693,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001300976.2",
"gene_hgnc_id": 26752,
"gene_symbol": "ANKRD42",
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287905.1",
"strand": true,
"transcript": "NM_001300976.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 198,
"aa_ref": "R",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4093,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 597,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001300977.2",
"gene_hgnc_id": 26752,
"gene_symbol": "ANKRD42",
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287906.1",
"strand": true,
"transcript": "NM_001300977.2",
"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": 3399,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_125355.2",
"gene_hgnc_id": 26752,
"gene_symbol": "ANKRD42",
"hgvs_c": "n.638C>T",
"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_125355.2",
"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": 766,
"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": "ENST00000531869.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000254551",
"hgvs_c": "n.91-236G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000531869.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs764888146",
"effect": "missense_variant",
"frequency_reference_population": 0.000012393478,
"gene_hgnc_id": 26752,
"gene_symbol": "ANKRD42",
"gnomad_exomes_ac": 19,
"gnomad_exomes_af": 0.0000129993,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657289,
"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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.294,
"pos": 83210342,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.234,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001433541.1"
}
]
}