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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: 16-627581-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=627581&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RAB40C",
"hgnc_id": 18285,
"hgvs_c": "c.805C>A",
"hgvs_p": "p.Pro269Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_021168.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.086,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3630119562149048,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2718,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 846,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_021168.5",
"gene_hgnc_id": 18285,
"gene_symbol": "RAB40C",
"hgvs_c": "c.805C>A",
"hgvs_p": "p.Pro269Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000248139.8",
"protein_coding": true,
"protein_id": "NP_066991.3",
"strand": true,
"transcript": "NM_021168.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2718,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 846,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000248139.8",
"gene_hgnc_id": 18285,
"gene_symbol": "RAB40C",
"hgvs_c": "c.805C>A",
"hgvs_p": "p.Pro269Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021168.5",
"protein_coding": true,
"protein_id": "ENSP00000248139.3",
"strand": true,
"transcript": "ENST00000248139.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 341,
"aa_ref": "P",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2760,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 1026,
"cds_start": 985,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851113.1",
"gene_hgnc_id": 18285,
"gene_symbol": "RAB40C",
"hgvs_c": "c.985C>A",
"hgvs_p": "p.Pro329Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521172.1",
"strand": true,
"transcript": "ENST00000851113.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 285,
"aa_ref": "P",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2611,
"cdna_start": 924,
"cds_end": null,
"cds_length": 858,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000851112.1",
"gene_hgnc_id": 18285,
"gene_symbol": "RAB40C",
"hgvs_c": "c.817C>A",
"hgvs_p": "p.Pro273Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521171.1",
"strand": true,
"transcript": "ENST00000851112.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2714,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 846,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001172663.2",
"gene_hgnc_id": 18285,
"gene_symbol": "RAB40C",
"hgvs_c": "c.805C>A",
"hgvs_p": "p.Pro269Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166134.1",
"strand": true,
"transcript": "NM_001172663.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2606,
"cdna_start": 919,
"cds_end": null,
"cds_length": 846,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001172664.2",
"gene_hgnc_id": 18285,
"gene_symbol": "RAB40C",
"hgvs_c": "c.805C>A",
"hgvs_p": "p.Pro269Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166135.1",
"strand": true,
"transcript": "NM_001172664.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2577,
"cdna_start": 890,
"cds_end": null,
"cds_length": 846,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001172665.2",
"gene_hgnc_id": 18285,
"gene_symbol": "RAB40C",
"hgvs_c": "c.805C>A",
"hgvs_p": "p.Pro269Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166136.1",
"strand": true,
"transcript": "NM_001172665.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2717,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 846,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000535977.5",
"gene_hgnc_id": 18285,
"gene_symbol": "RAB40C",
"hgvs_c": "c.805C>A",
"hgvs_p": "p.Pro269Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438492.1",
"strand": true,
"transcript": "ENST00000535977.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2569,
"cdna_start": 879,
"cds_end": null,
"cds_length": 846,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000538492.5",
"gene_hgnc_id": 18285,
"gene_symbol": "RAB40C",
"hgvs_c": "c.805C>A",
"hgvs_p": "p.Pro269Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438382.1",
"strand": true,
"transcript": "ENST00000538492.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2609,
"cdna_start": 919,
"cds_end": null,
"cds_length": 846,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000539661.5",
"gene_hgnc_id": 18285,
"gene_symbol": "RAB40C",
"hgvs_c": "c.805C>A",
"hgvs_p": "p.Pro269Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445050.1",
"strand": true,
"transcript": "ENST00000539661.5",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 895,
"cds_end": null,
"cds_length": 846,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000940190.1",
"gene_hgnc_id": 18285,
"gene_symbol": "RAB40C",
"hgvs_c": "c.805C>A",
"hgvs_p": "p.Pro269Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610249.1",
"strand": true,
"transcript": "ENST00000940190.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 1647,
"cds_end": null,
"cds_length": 846,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000951863.1",
"gene_hgnc_id": 18285,
"gene_symbol": "RAB40C",
"hgvs_c": "c.805C>A",
"hgvs_p": "p.Pro269Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621922.1",
"strand": true,
"transcript": "ENST00000951863.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": 935,
"cds_end": null,
"cds_length": 846,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000951864.1",
"gene_hgnc_id": 18285,
"gene_symbol": "RAB40C",
"hgvs_c": "c.805C>A",
"hgvs_p": "p.Pro269Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621923.1",
"strand": true,
"transcript": "ENST00000951864.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 262,
"aa_ref": "P",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 833,
"cds_end": null,
"cds_length": 789,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001172666.2",
"gene_hgnc_id": 18285,
"gene_symbol": "RAB40C",
"hgvs_c": "c.748C>A",
"hgvs_p": "p.Pro250Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166137.1",
"strand": true,
"transcript": "NM_001172666.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 235,
"aa_ref": "P",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 710,
"cdna_start": 708,
"cds_end": null,
"cds_length": 708,
"cds_start": 706,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000563109.1",
"gene_hgnc_id": 18285,
"gene_symbol": "RAB40C",
"hgvs_c": "c.706C>A",
"hgvs_p": "p.Pro236Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455225.1",
"strand": true,
"transcript": "ENST00000563109.1",
"transcript_support_level": 3
},
{
"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": 2439,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000561781.1",
"gene_hgnc_id": 18285,
"gene_symbol": "RAB40C",
"hgvs_c": "n.748C>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": "ENST00000561781.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 212,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 753,
"cdna_start": null,
"cds_end": null,
"cds_length": 639,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000566290.5",
"gene_hgnc_id": 18285,
"gene_symbol": "RAB40C",
"hgvs_c": "c.*166C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455029.1",
"strand": true,
"transcript": "ENST00000566290.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200782060",
"effect": "missense_variant",
"frequency_reference_population": 0.000005590965,
"gene_hgnc_id": 18285,
"gene_symbol": "RAB40C",
"gnomad_exomes_ac": 7,
"gnomad_exomes_af": 0.00000480273,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131375,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.103,
"pos": 627581,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.203,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_021168.5"
}
]
}