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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: 5-177301801-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177301801&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 177301801,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_130781.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB24",
"gene_hgnc_id": 9765,
"hgvs_c": "c.554A>G",
"hgvs_p": "p.Lys185Arg",
"transcript": "NM_001031677.4",
"protein_id": "NP_001026847.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 203,
"cds_start": 554,
"cds_end": null,
"cds_length": 612,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": "ENST00000303251.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031677.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB24",
"gene_hgnc_id": 9765,
"hgvs_c": "c.554A>G",
"hgvs_p": "p.Lys185Arg",
"transcript": "ENST00000303251.11",
"protein_id": "ENSP00000304376.6",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 203,
"cds_start": 554,
"cds_end": null,
"cds_length": 612,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": "NM_001031677.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303251.11"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB24",
"gene_hgnc_id": 9765,
"hgvs_c": "c.554A>G",
"hgvs_p": "p.Lys185Arg",
"transcript": "ENST00000393611.6",
"protein_id": "ENSP00000377235.2",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 203,
"cds_start": 554,
"cds_end": null,
"cds_length": 612,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393611.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB24",
"gene_hgnc_id": 9765,
"hgvs_c": "c.554A>G",
"hgvs_p": "p.Lys185Arg",
"transcript": "NM_130781.4",
"protein_id": "NP_570137.2",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 203,
"cds_start": 554,
"cds_end": null,
"cds_length": 612,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130781.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "RAB24",
"gene_hgnc_id": 9765,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Lys168Arg",
"transcript": "ENST00000946229.1",
"protein_id": "ENSP00000616288.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 186,
"cds_start": 503,
"cds_end": null,
"cds_length": 561,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946229.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "RAB24",
"gene_hgnc_id": 9765,
"hgvs_c": "c.467A>G",
"hgvs_p": "p.Lys156Arg",
"transcript": "ENST00000303270.6",
"protein_id": "ENSP00000302085.6",
"transcript_support_level": 2,
"aa_start": 156,
"aa_end": null,
"aa_length": 174,
"cds_start": 467,
"cds_end": null,
"cds_length": 525,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 1385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303270.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "RAB24",
"gene_hgnc_id": 9765,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Lys136Arg",
"transcript": "ENST00000889061.1",
"protein_id": "ENSP00000559120.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 154,
"cds_start": 407,
"cds_end": null,
"cds_length": 465,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889061.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "RAB24",
"gene_hgnc_id": 9765,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Lys129Arg",
"transcript": "ENST00000921245.1",
"protein_id": "ENSP00000591304.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 147,
"cds_start": 386,
"cds_end": null,
"cds_length": 444,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 1142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921245.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB24",
"gene_hgnc_id": 9765,
"hgvs_c": "n.1344A>G",
"hgvs_p": null,
"transcript": "ENST00000471466.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000471466.5"
},
{
"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": "RAB24",
"gene_hgnc_id": 9765,
"hgvs_c": "n.1217A>G",
"hgvs_p": null,
"transcript": "ENST00000478234.5",
"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": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478234.5"
},
{
"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": "RAB24",
"gene_hgnc_id": 9765,
"hgvs_c": "n.1259A>G",
"hgvs_p": null,
"transcript": "ENST00000495458.5",
"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": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000495458.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXD3",
"gene_hgnc_id": 14008,
"hgvs_c": "n.1939A>G",
"hgvs_p": null,
"transcript": "ENST00000503473.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 2279,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000503473.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB24",
"gene_hgnc_id": 9765,
"hgvs_c": "n.1117A>G",
"hgvs_p": null,
"transcript": "NR_109789.2",
"protein_id": null,
"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": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_109789.2"
},
{
"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": "RAB24",
"gene_hgnc_id": 9765,
"hgvs_c": "n.1203A>G",
"hgvs_p": null,
"transcript": "NR_109790.2",
"protein_id": null,
"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": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_109790.2"
}
],
"gene_symbol": "RAB24",
"gene_hgnc_id": 9765,
"dbsnp": "rs201915973",
"frequency_reference_population": 0.000014867973,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000054724,
"gnomad_genomes_af": 0.000105038,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03752809762954712,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.116,
"revel_prediction": "Benign",
"alphamissense_score": 0.0771,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.693,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.2,
"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": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_130781.4",
"gene_symbol": "RAB24",
"hgnc_id": 9765,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.554A>G",
"hgvs_p": "p.Lys185Arg"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000503473.5",
"gene_symbol": "MXD3",
"hgnc_id": 14008,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.1939A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}