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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: 4-118723600-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=118723600&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 118723600,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001318066.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24D",
"gene_hgnc_id": 10706,
"hgvs_c": "c.3014T>G",
"hgvs_p": "p.Val1005Gly",
"transcript": "NM_014822.4",
"protein_id": "NP_055637.2",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1032,
"cds_start": 3014,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000280551.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014822.4"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24D",
"gene_hgnc_id": 10706,
"hgvs_c": "c.3014T>G",
"hgvs_p": "p.Val1005Gly",
"transcript": "ENST00000280551.11",
"protein_id": "ENSP00000280551.6",
"transcript_support_level": 1,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1032,
"cds_start": 3014,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014822.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280551.11"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24D",
"gene_hgnc_id": 10706,
"hgvs_c": "c.1907T>G",
"hgvs_p": "p.Val636Gly",
"transcript": "ENST00000511481.5",
"protein_id": "ENSP00000425491.1",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 663,
"cds_start": 1907,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511481.5"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24D",
"gene_hgnc_id": 10706,
"hgvs_c": "c.3017T>G",
"hgvs_p": "p.Val1006Gly",
"transcript": "NM_001318066.2",
"protein_id": "NP_001304995.1",
"transcript_support_level": null,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1033,
"cds_start": 3017,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318066.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24D",
"gene_hgnc_id": 10706,
"hgvs_c": "c.3014T>G",
"hgvs_p": "p.Val1005Gly",
"transcript": "ENST00000924655.1",
"protein_id": "ENSP00000594714.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1032,
"cds_start": 3014,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924655.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24D",
"gene_hgnc_id": 10706,
"hgvs_c": "c.3014T>G",
"hgvs_p": "p.Val1005Gly",
"transcript": "ENST00000924658.1",
"protein_id": "ENSP00000594717.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1032,
"cds_start": 3014,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924658.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24D",
"gene_hgnc_id": 10706,
"hgvs_c": "c.3011T>G",
"hgvs_p": "p.Val1004Gly",
"transcript": "ENST00000924656.1",
"protein_id": "ENSP00000594715.1",
"transcript_support_level": null,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1031,
"cds_start": 3011,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924656.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24D",
"gene_hgnc_id": 10706,
"hgvs_c": "c.2900T>G",
"hgvs_p": "p.Val967Gly",
"transcript": "ENST00000899696.1",
"protein_id": "ENSP00000569755.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 994,
"cds_start": 2900,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899696.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24D",
"gene_hgnc_id": 10706,
"hgvs_c": "c.2897T>G",
"hgvs_p": "p.Val966Gly",
"transcript": "ENST00000899695.1",
"protein_id": "ENSP00000569754.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 993,
"cds_start": 2897,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899695.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24D",
"gene_hgnc_id": 10706,
"hgvs_c": "c.2726T>G",
"hgvs_p": "p.Val909Gly",
"transcript": "ENST00000924657.1",
"protein_id": "ENSP00000594716.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 936,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924657.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24D",
"gene_hgnc_id": 10706,
"hgvs_c": "n.343T>G",
"hgvs_p": null,
"transcript": "ENST00000502830.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000502830.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24D",
"gene_hgnc_id": 10706,
"hgvs_c": "n.3145T>G",
"hgvs_p": null,
"transcript": "ENST00000505134.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000505134.5"
}
],
"gene_symbol": "SEC24D",
"gene_hgnc_id": 10706,
"dbsnp": "rs1725254711",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8831219673156738,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.847,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6499,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.947,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001318066.2",
"gene_symbol": "SEC24D",
"hgnc_id": 10706,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3017T>G",
"hgvs_p": "p.Val1006Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}