← Back to variant description
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: 4-13368630-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=13368630&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 13368630,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001017979.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB28",
"gene_hgnc_id": 9768,
"hgvs_c": "c.594T>G",
"hgvs_p": "p.Ile198Met",
"transcript": "NM_001017979.3",
"protein_id": "NP_001017979.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 221,
"cds_start": 594,
"cds_end": null,
"cds_length": 666,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": "ENST00000330852.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017979.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB28",
"gene_hgnc_id": 9768,
"hgvs_c": "c.594T>G",
"hgvs_p": "p.Ile198Met",
"transcript": "ENST00000330852.10",
"protein_id": "ENSP00000328551.5",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 221,
"cds_start": 594,
"cds_end": null,
"cds_length": 666,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": "NM_001017979.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330852.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB28",
"gene_hgnc_id": 9768,
"hgvs_c": "c.*26T>G",
"hgvs_p": null,
"transcript": "NM_004249.4",
"protein_id": "NP_004240.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": "ENST00000288723.9",
"biotype": "protein_coding",
"feature": "NM_004249.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB28",
"gene_hgnc_id": 9768,
"hgvs_c": "c.*26T>G",
"hgvs_p": null,
"transcript": "ENST00000288723.9",
"protein_id": "ENSP00000288723.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": "NM_004249.4",
"biotype": "protein_coding",
"feature": "ENST00000288723.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB28",
"gene_hgnc_id": 9768,
"hgvs_c": "n.*176T>G",
"hgvs_p": null,
"transcript": "ENST00000508274.5",
"protein_id": "ENSP00000424043.1",
"transcript_support_level": 1,
"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": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000508274.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB28",
"gene_hgnc_id": 9768,
"hgvs_c": "n.*176T>G",
"hgvs_p": null,
"transcript": "ENST00000508274.5",
"protein_id": "ENSP00000424043.1",
"transcript_support_level": 1,
"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": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000508274.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB28",
"gene_hgnc_id": 9768,
"hgvs_c": "c.576T>G",
"hgvs_p": "p.Ile192Met",
"transcript": "ENST00000926296.1",
"protein_id": "ENSP00000596355.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 215,
"cds_start": 576,
"cds_end": null,
"cds_length": 648,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926296.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB28",
"gene_hgnc_id": 9768,
"hgvs_c": "c.516T>G",
"hgvs_p": "p.Ile172Met",
"transcript": "ENST00000896236.1",
"protein_id": "ENSP00000566295.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 195,
"cds_start": 516,
"cds_end": null,
"cds_length": 588,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896236.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB28",
"gene_hgnc_id": 9768,
"hgvs_c": "c.375T>G",
"hgvs_p": "p.Ile125Met",
"transcript": "ENST00000896235.1",
"protein_id": "ENSP00000566294.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 148,
"cds_start": 375,
"cds_end": null,
"cds_length": 447,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896235.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB28",
"gene_hgnc_id": 9768,
"hgvs_c": "c.*52T>G",
"hgvs_p": null,
"transcript": "NM_001159601.2",
"protein_id": "NP_001153073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159601.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB28",
"gene_hgnc_id": 9768,
"hgvs_c": "c.*52T>G",
"hgvs_p": null,
"transcript": "ENST00000338176.8",
"protein_id": "ENSP00000340079.4",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338176.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB28",
"gene_hgnc_id": 9768,
"hgvs_c": "c.*52T>G",
"hgvs_p": null,
"transcript": "ENST00000504644.1",
"protein_id": "ENSP00000422816.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": null,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504644.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RAB28",
"gene_hgnc_id": 9768,
"hgvs_c": "c.*5+1241T>G",
"hgvs_p": null,
"transcript": "ENST00000511649.5",
"protein_id": "ENSP00000424899.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511649.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB28",
"gene_hgnc_id": 9768,
"hgvs_c": "n.*271T>G",
"hgvs_p": null,
"transcript": "ENST00000630951.1",
"protein_id": "ENSP00000485808.1",
"transcript_support_level": null,
"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": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000630951.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB28",
"gene_hgnc_id": 9768,
"hgvs_c": "n.*271T>G",
"hgvs_p": null,
"transcript": "ENST00000630951.1",
"protein_id": "ENSP00000485808.1",
"transcript_support_level": null,
"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": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000630951.1"
}
],
"gene_symbol": "RAB28",
"gene_hgnc_id": 9768,
"dbsnp": "rs183586599",
"frequency_reference_population": 0.00007691516,
"hom_count_reference_population": 0,
"allele_count_reference_population": 124,
"gnomad_exomes_af": 0.0000815143,
"gnomad_genomes_af": 0.0000328299,
"gnomad_exomes_ac": 119,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5252546072006226,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.436,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3077,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.327,
"phylop100way_prediction": "Benign",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BS1",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "NM_001017979.3",
"gene_symbol": "RAB28",
"hgnc_id": 9768,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.594T>G",
"hgvs_p": "p.Ile198Met"
}
],
"clinvar_disease": "Retinal dystrophy,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Retinal dystrophy|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}