← 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: 1-169854470-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=169854470&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 169854470,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_181093.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Glu603Lys",
"transcript": "NM_020423.7",
"protein_id": "NP_065156.5",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 688,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367771.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020423.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Glu603Lys",
"transcript": "ENST00000367771.11",
"protein_id": "ENSP00000356745.5",
"transcript_support_level": 1,
"aa_start": 603,
"aa_end": null,
"aa_length": 688,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020423.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367771.11"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.1969G>A",
"hgvs_p": "p.Glu657Lys",
"transcript": "ENST00000367770.5",
"protein_id": "ENSP00000356744.1",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 742,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367770.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.2008G>A",
"hgvs_p": "p.Glu670Lys",
"transcript": "ENST00000910084.1",
"protein_id": "ENSP00000580143.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 755,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910084.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.2008G>A",
"hgvs_p": "p.Glu670Lys",
"transcript": "ENST00000966135.1",
"protein_id": "ENSP00000636194.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 755,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966135.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.1969G>A",
"hgvs_p": "p.Glu657Lys",
"transcript": "NM_181093.4",
"protein_id": "NP_851607.2",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 742,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181093.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.1969G>A",
"hgvs_p": "p.Glu657Lys",
"transcript": "ENST00000367772.8",
"protein_id": "ENSP00000356746.4",
"transcript_support_level": 2,
"aa_start": 657,
"aa_end": null,
"aa_length": 742,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367772.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.1885G>A",
"hgvs_p": "p.Glu629Lys",
"transcript": "ENST00000910088.1",
"protein_id": "ENSP00000580147.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 714,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910088.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Glu603Lys",
"transcript": "ENST00000910083.1",
"protein_id": "ENSP00000580142.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 688,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910083.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Glu603Lys",
"transcript": "ENST00000910086.1",
"protein_id": "ENSP00000580145.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 688,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910086.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Glu603Lys",
"transcript": "ENST00000910087.1",
"protein_id": "ENSP00000580146.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 688,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910087.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Glu603Lys",
"transcript": "ENST00000937694.1",
"protein_id": "ENSP00000607753.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 688,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937694.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Glu597Lys",
"transcript": "ENST00000910085.1",
"protein_id": "ENSP00000580144.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 682,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910085.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.1969G>A",
"hgvs_p": "p.Glu657Lys",
"transcript": "XM_006711465.2",
"protein_id": "XP_006711528.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 742,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711465.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.1969G>A",
"hgvs_p": "p.Glu657Lys",
"transcript": "XM_011509801.2",
"protein_id": "XP_011508103.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 742,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509801.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Glu603Lys",
"transcript": "XM_017001862.2",
"protein_id": "XP_016857351.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 688,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001862.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Glu603Lys",
"transcript": "XM_017001863.2",
"protein_id": "XP_016857352.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 688,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001863.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Glu515Lys",
"transcript": "XM_011509802.2",
"protein_id": "XP_011508104.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 600,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509802.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIRRM",
"gene_hgnc_id": 25565,
"hgvs_c": "c.*1483C>T",
"hgvs_p": null,
"transcript": "ENST00000937558.1",
"protein_id": "ENSP00000607617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 853,
"cds_start": null,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937558.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"hgvs_c": "c.*41G>A",
"hgvs_p": null,
"transcript": "ENST00000423670.1",
"protein_id": "ENSP00000407993.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": null,
"cds_end": null,
"cds_length": 1766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423670.1"
}
],
"gene_symbol": "SCYL3",
"gene_hgnc_id": 19285,
"dbsnp": "rs149349564",
"frequency_reference_population": 0.000026022917,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000184701,
"gnomad_genomes_af": 0.0000985921,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27475887537002563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.239,
"revel_prediction": "Benign",
"alphamissense_score": 0.1804,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.53,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_181093.4",
"gene_symbol": "SCYL3",
"hgnc_id": 19285,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1969G>A",
"hgvs_p": "p.Glu657Lys"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000937558.1",
"gene_symbol": "FIRRM",
"hgnc_id": 25565,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*1483C>T",
"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
}