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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: 16-4797726-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4797726&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4797726,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000322048.12",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.810G>A",
"hgvs_p": "p.Gln270Gln",
"transcript": "NM_024589.3",
"protein_id": "NP_078865.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 287,
"cds_start": 810,
"cds_end": null,
"cds_length": 864,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 1418,
"mane_select": "ENST00000322048.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.810G>A",
"hgvs_p": "p.Gln270Gln",
"transcript": "ENST00000322048.12",
"protein_id": "ENSP00000322832.6",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 287,
"cds_start": 810,
"cds_end": null,
"cds_length": 864,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 1418,
"mane_select": "NM_024589.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Ala180Thr",
"transcript": "ENST00000586504.5",
"protein_id": "ENSP00000465076.1",
"transcript_support_level": 5,
"aa_start": 180,
"aa_end": null,
"aa_length": 215,
"cds_start": 538,
"cds_end": null,
"cds_length": 649,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Gln246Gln",
"transcript": "ENST00000591392.5",
"protein_id": "ENSP00000467509.1",
"transcript_support_level": 3,
"aa_start": 246,
"aa_end": null,
"aa_length": 252,
"cds_start": 738,
"cds_end": null,
"cds_length": 761,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.495G>A",
"hgvs_p": "p.Gln165Gln",
"transcript": "ENST00000587711.5",
"protein_id": "ENSP00000467459.1",
"transcript_support_level": 5,
"aa_start": 165,
"aa_end": null,
"aa_length": 170,
"cds_start": 495,
"cds_end": null,
"cds_length": 514,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.165G>A",
"hgvs_p": "p.Gln55Gln",
"transcript": "ENST00000592019.1",
"protein_id": "ENSP00000468334.1",
"transcript_support_level": 3,
"aa_start": 55,
"aa_end": null,
"aa_length": 72,
"cds_start": 165,
"cds_end": null,
"cds_length": 219,
"cdna_start": 166,
"cdna_end": null,
"cdna_length": 371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.831G>A",
"hgvs_p": "p.Gln277Gln",
"transcript": "XM_006720947.5",
"protein_id": "XP_006721010.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 294,
"cds_start": 831,
"cds_end": null,
"cds_length": 885,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 1439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.561G>A",
"hgvs_p": "p.Gln187Gln",
"transcript": "XM_047434636.1",
"protein_id": "XP_047290592.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 204,
"cds_start": 561,
"cds_end": null,
"cds_length": 615,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 1272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "n.*130G>A",
"hgvs_p": null,
"transcript": "ENST00000587377.5",
"protein_id": "ENSP00000468343.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "n.*548G>A",
"hgvs_p": null,
"transcript": "ENST00000587843.5",
"protein_id": "ENSP00000465970.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "n.*801G>A",
"hgvs_p": null,
"transcript": "ENST00000588201.5",
"protein_id": "ENSP00000466529.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "n.2139G>A",
"hgvs_p": null,
"transcript": "ENST00000591292.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285952",
"gene_hgnc_id": null,
"hgvs_c": "n.1400G>A",
"hgvs_p": null,
"transcript": "ENST00000649556.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "n.817G>A",
"hgvs_p": null,
"transcript": "NR_046480.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.*86G>A",
"hgvs_p": null,
"transcript": "ENST00000586153.1",
"protein_id": "ENSP00000464699.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": -4,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "n.*130G>A",
"hgvs_p": null,
"transcript": "ENST00000587377.5",
"protein_id": "ENSP00000468343.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "n.*548G>A",
"hgvs_p": null,
"transcript": "ENST00000587843.5",
"protein_id": "ENSP00000465970.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "n.*801G>A",
"hgvs_p": null,
"transcript": "ENST00000588201.5",
"protein_id": "ENSP00000466529.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "n.*16G>A",
"hgvs_p": null,
"transcript": "ENST00000586336.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "n.*54G>A",
"hgvs_p": null,
"transcript": "ENST00000589543.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"dbsnp": "rs137912684",
"frequency_reference_population": 0.00013515887,
"hom_count_reference_population": 1,
"allele_count_reference_population": 177,
"gnomad_exomes_af": 0.0000792082,
"gnomad_genomes_af": 0.00130653,
"gnomad_exomes_ac": 99,
"gnomad_genomes_ac": 78,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4099999964237213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.827,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000322048.12",
"gene_symbol": "ROGDI",
"hgnc_id": 29478,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.810G>A",
"hgvs_p": "p.Gln270Gln"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000649556.1",
"gene_symbol": "ENSG00000285952",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1400G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Amelocerebrohypohidrotic syndrome,ROGDI-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Amelocerebrohypohidrotic syndrome|not provided|ROGDI-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}