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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: 12-105144438-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=105144438&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "WASHC4",
"hgnc_id": 29174,
"hgvs_c": "c.2165G>A",
"hgvs_p": "p.Arg722His",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001293640.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_score": -13,
"allele_count_reference_population": 812,
"alphamissense_prediction": null,
"alphamissense_score": 0.0787,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "12",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.009955912828445435,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1173,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5791,
"cdna_start": 2232,
"cds_end": null,
"cds_length": 3522,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_015275.3",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "c.2162G>A",
"hgvs_p": "p.Arg721His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000332180.10",
"protein_coding": true,
"protein_id": "NP_056090.1",
"strand": true,
"transcript": "NM_015275.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1173,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5791,
"cdna_start": 2232,
"cds_end": null,
"cds_length": 3522,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000332180.10",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "c.2162G>A",
"hgvs_p": "p.Arg721His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015275.3",
"protein_coding": true,
"protein_id": "ENSP00000328062.6",
"strand": true,
"transcript": "ENST00000332180.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1174,
"aa_ref": "R",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3623,
"cdna_start": 2194,
"cds_end": null,
"cds_length": 3525,
"cds_start": 2165,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000620430.5",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "c.2165G>A",
"hgvs_p": "p.Arg722His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484713.1",
"strand": true,
"transcript": "ENST00000620430.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1179,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5777,
"cdna_start": 2200,
"cds_end": null,
"cds_length": 3540,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000934676.1",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "c.2162G>A",
"hgvs_p": "p.Arg721His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604735.1",
"strand": true,
"transcript": "ENST00000934676.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1174,
"aa_ref": "R",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5794,
"cdna_start": 2235,
"cds_end": null,
"cds_length": 3525,
"cds_start": 2165,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001293640.2",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "c.2165G>A",
"hgvs_p": "p.Arg722His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001280569.1",
"strand": true,
"transcript": "NM_001293640.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5791,
"cdna_start": 2232,
"cds_end": null,
"cds_length": 3519,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000890188.1",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "c.2162G>A",
"hgvs_p": "p.Arg721His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560247.1",
"strand": true,
"transcript": "ENST00000890188.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "R",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5713,
"cdna_start": 2150,
"cds_end": null,
"cds_length": 3453,
"cds_start": 2093,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000934675.1",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Arg698His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604734.1",
"strand": true,
"transcript": "ENST00000934675.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1131,
"aa_ref": "R",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5633,
"cdna_start": 2074,
"cds_end": null,
"cds_length": 3396,
"cds_start": 2036,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000934677.1",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "c.2036G>A",
"hgvs_p": "p.Arg679His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604736.1",
"strand": true,
"transcript": "ENST00000934677.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1128,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5671,
"cdna_start": 2247,
"cds_end": null,
"cds_length": 3387,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000890187.1",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "c.2162G>A",
"hgvs_p": "p.Arg721His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560246.1",
"strand": true,
"transcript": "ENST00000890187.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1128,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5656,
"cdna_start": 2232,
"cds_end": null,
"cds_length": 3387,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011538073.4",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "c.2162G>A",
"hgvs_p": "p.Arg721His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536375.1",
"strand": true,
"transcript": "XM_011538073.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 985,
"aa_ref": "R",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5264,
"cdna_start": 1705,
"cds_end": null,
"cds_length": 2958,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011538074.3",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536376.1",
"strand": true,
"transcript": "XM_011538074.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 944,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2943,
"cdna_start": 2232,
"cds_end": null,
"cds_length": 2835,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047428592.1",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "c.2162G>A",
"hgvs_p": "p.Arg721His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284548.1",
"strand": true,
"transcript": "XM_047428592.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 941,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3193,
"cdna_start": 2232,
"cds_end": null,
"cds_length": 2826,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_017019082.3",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "c.2162G>A",
"hgvs_p": "p.Arg721His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874571.1",
"strand": true,
"transcript": "XM_017019082.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 928,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2877,
"cdna_start": 2232,
"cds_end": null,
"cds_length": 2787,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047428593.1",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "c.2162G>A",
"hgvs_p": "p.Arg721His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284549.1",
"strand": true,
"transcript": "XM_047428593.1",
"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": 2897,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000311317.8",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "n.2249G>A",
"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": "ENST00000311317.8",
"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": 5819,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000550053.5",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "n.*1604G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000448966.1",
"strand": true,
"transcript": "ENST00000550053.5",
"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": 3012,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XR_007063060.1",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "n.2232G>A",
"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": "XR_007063060.1",
"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": 5819,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 33,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000550053.5",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "n.*1604G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000448966.1",
"strand": true,
"transcript": "ENST00000550053.5",
"transcript_support_level": 5
},
{
"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": 467,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000550613.1",
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"hgvs_c": "n.-11G>A",
"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": "ENST00000550613.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs74426960",
"effect": "missense_variant",
"frequency_reference_population": 0.0005041712,
"gene_hgnc_id": 29174,
"gene_symbol": "WASHC4",
"gnomad_exomes_ac": 451,
"gnomad_exomes_af": 0.000308634,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_ac": 361,
"gnomad_genomes_af": 0.00241818,
"gnomad_genomes_homalt": 3,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 5,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not specified|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.877,
"pos": 105144438,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.151,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.03999999910593033,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.04,
"transcript": "NM_001293640.2"
}
]
}