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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: 15-74852110-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=74852110&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 74852110,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001320778.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "NM_005697.5",
"protein_id": "NP_005688.2",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 329,
"cds_start": 302,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000268099.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005697.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "ENST00000268099.13",
"protein_id": "ENSP00000268099.9",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 329,
"cds_start": 302,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005697.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268099.13"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144His",
"transcript": "NM_001320778.2",
"protein_id": "NP_001307707.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 372,
"cds_start": 431,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320778.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144His",
"transcript": "ENST00000894365.1",
"protein_id": "ENSP00000564424.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 372,
"cds_start": 431,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894365.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144His",
"transcript": "ENST00000960462.1",
"protein_id": "ENSP00000630521.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 338,
"cds_start": 431,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960462.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "ENST00000894366.1",
"protein_id": "ENSP00000564425.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 326,
"cds_start": 302,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894366.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "ENST00000894369.1",
"protein_id": "ENSP00000564428.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 304,
"cds_start": 302,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894369.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "ENST00000894364.1",
"protein_id": "ENSP00000564423.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 295,
"cds_start": 302,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894364.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "ENST00000894370.1",
"protein_id": "ENSP00000564429.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 286,
"cds_start": 302,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894370.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Arg61His",
"transcript": "ENST00000566480.5",
"protein_id": "ENSP00000455377.1",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 278,
"cds_start": 182,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566480.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "c.134G>A",
"hgvs_p": "p.Arg45His",
"transcript": "ENST00000894367.1",
"protein_id": "ENSP00000564426.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 273,
"cds_start": 134,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894367.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "ENST00000894368.1",
"protein_id": "ENSP00000564427.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 257,
"cds_start": 302,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894368.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144His",
"transcript": "ENST00000564529.1",
"protein_id": "ENSP00000457564.1",
"transcript_support_level": 2,
"aa_start": 144,
"aa_end": null,
"aa_length": 253,
"cds_start": 431,
"cds_end": null,
"cds_length": 763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564529.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "ENST00000562363.5",
"protein_id": "ENSP00000457890.1",
"transcript_support_level": 5,
"aa_start": 78,
"aa_end": null,
"aa_length": 193,
"cds_start": 233,
"cds_end": null,
"cds_length": 583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562363.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "c.-149G>A",
"hgvs_p": null,
"transcript": "ENST00000565345.5",
"protein_id": "ENSP00000454464.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": null,
"cds_end": null,
"cds_length": 280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565345.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "n.2246G>A",
"hgvs_p": null,
"transcript": "ENST00000563829.5",
"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": "retained_intron",
"feature": "ENST00000563829.5"
},
{
"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": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "n.379G>A",
"hgvs_p": null,
"transcript": "ENST00000566557.5",
"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": "retained_intron",
"feature": "ENST00000566557.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "n.72G>A",
"hgvs_p": null,
"transcript": "ENST00000567638.1",
"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": "ENST00000567638.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "n.104G>A",
"hgvs_p": null,
"transcript": "ENST00000569251.5",
"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": "retained_intron",
"feature": "ENST00000569251.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "n.302G>A",
"hgvs_p": null,
"transcript": "ENST00000569904.5",
"protein_id": "ENSP00000454741.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000569904.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"hgvs_c": "n.126+2471G>A",
"hgvs_p": null,
"transcript": "ENST00000563663.5",
"protein_id": "ENSP00000455963.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000563663.5"
}
],
"gene_symbol": "SCAMP2",
"gene_hgnc_id": 10564,
"dbsnp": "rs766633770",
"frequency_reference_population": 0.000009417071,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000555323,
"gnomad_genomes_af": 0.0000459776,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4597547650337219,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.1164,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.447,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001320778.2",
"gene_symbol": "SCAMP2",
"hgnc_id": 10564,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144His"
}
],
"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
}