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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: 18-58044682-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=58044682&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NEDD4L",
"hgnc_id": 7728,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001144967.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0868,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "18",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07517677545547485,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 975,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8633,
"cdna_start": 457,
"cds_end": null,
"cds_length": 2928,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001144967.3",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000400345.8",
"protein_coding": true,
"protein_id": "NP_001138439.1",
"strand": true,
"transcript": "NM_001144967.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 975,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8633,
"cdna_start": 457,
"cds_end": null,
"cds_length": 2928,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000400345.8",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001144967.3",
"protein_coding": true,
"protein_id": "ENSP00000383199.2",
"strand": true,
"transcript": "ENST00000400345.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 955,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8251,
"cdna_start": 135,
"cds_end": null,
"cds_length": 2868,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000382850.8",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372301.3",
"strand": true,
"transcript": "ENST00000382850.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 911,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3335,
"cdna_start": 316,
"cds_end": null,
"cds_length": 2736,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000356462.10",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348847.5",
"strand": true,
"transcript": "ENST00000356462.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 955,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8573,
"cdna_start": 457,
"cds_end": null,
"cds_length": 2868,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_015277.6",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056092.2",
"strand": true,
"transcript": "NM_015277.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 911,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8441,
"cdna_start": 457,
"cds_end": null,
"cds_length": 2736,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001243960.2",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230889.1",
"strand": true,
"transcript": "NM_001243960.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 889,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5201,
"cdna_start": 633,
"cds_end": null,
"cds_length": 2670,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000936802.1",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606861.1",
"strand": true,
"transcript": "ENST00000936802.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 871,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2920,
"cdna_start": 22,
"cds_end": null,
"cds_length": 2616,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000256830.13",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000256830.8",
"strand": true,
"transcript": "ENST00000256830.13",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 863,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4686,
"cdna_start": 231,
"cds_end": null,
"cds_length": 2592,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000676024.1",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502105.1",
"strand": true,
"transcript": "ENST00000676024.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 106,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1033,
"cdna_start": 299,
"cds_end": null,
"cds_length": 321,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000589054.5",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465669.1",
"strand": true,
"transcript": "ENST00000589054.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 20,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 728,
"cdna_start": 296,
"cds_end": null,
"cds_length": 63,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000617539.1",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479462.1",
"strand": true,
"transcript": "ENST00000617539.1",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8766,
"cdna_start": 457,
"cds_end": null,
"cds_length": 3060,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_006722426.5",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722489.1",
"strand": true,
"transcript": "XM_006722426.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1001,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8712,
"cdna_start": 457,
"cds_end": null,
"cds_length": 3006,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047437406.1",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293362.1",
"strand": true,
"transcript": "XM_047437406.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 999,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8706,
"cdna_start": 457,
"cds_end": null,
"cds_length": 3000,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047437407.1",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293363.1",
"strand": true,
"transcript": "XM_047437407.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 993,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8688,
"cdna_start": 457,
"cds_end": null,
"cds_length": 2982,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_006722428.5",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722491.1",
"strand": true,
"transcript": "XM_006722428.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 981,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8652,
"cdna_start": 457,
"cds_end": null,
"cds_length": 2946,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047437408.1",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293364.1",
"strand": true,
"transcript": "XM_047437408.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 973,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8628,
"cdna_start": 457,
"cds_end": null,
"cds_length": 2922,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017025678.3",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881167.1",
"strand": true,
"transcript": "XM_017025678.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 805,
"aa_ref": "P",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8124,
"cdna_start": 457,
"cds_end": null,
"cds_length": 2418,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047437421.1",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293377.1",
"strand": true,
"transcript": "XM_047437421.1",
"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": 5680,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000674845.1",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "n.22C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502309.1",
"strand": true,
"transcript": "ENST00000674845.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2144325752",
"effect": "missense_variant",
"frequency_reference_population": 0.0000013765724,
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000137657,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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 provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.196,
"pos": 58044682,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.03,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001144967.3"
}
]
}