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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: 1-54991894-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=54991894&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 54991894,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_182532.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM61",
"gene_hgnc_id": 27296,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Glu142Lys",
"transcript": "NM_182532.3",
"protein_id": "NP_872338.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 210,
"cds_start": 424,
"cds_end": null,
"cds_length": 633,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 1256,
"mane_select": "ENST00000371268.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM61",
"gene_hgnc_id": 27296,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Glu142Lys",
"transcript": "ENST00000371268.4",
"protein_id": "ENSP00000360315.3",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 210,
"cds_start": 424,
"cds_end": null,
"cds_length": 633,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 1256,
"mane_select": "NM_182532.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM61",
"gene_hgnc_id": 27296,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Glu142Lys",
"transcript": "ENST00000715913.1",
"protein_id": "ENSP00000520542.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 210,
"cds_start": 424,
"cds_end": null,
"cds_length": 633,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM61",
"gene_hgnc_id": 27296,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"transcript": "ENST00000715514.1",
"protein_id": "ENSP00000520459.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 205,
"cds_start": 409,
"cds_end": null,
"cds_length": 618,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM61",
"gene_hgnc_id": 27296,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"transcript": "ENST00000715911.1",
"protein_id": "ENSP00000520540.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 205,
"cds_start": 409,
"cds_end": null,
"cds_length": 618,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM61",
"gene_hgnc_id": 27296,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"transcript": "ENST00000715914.1",
"protein_id": "ENSP00000520543.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 205,
"cds_start": 409,
"cds_end": null,
"cds_length": 618,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 1118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM61",
"gene_hgnc_id": 27296,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Glu142Lys",
"transcript": "XM_011540911.3",
"protein_id": "XP_011539213.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 210,
"cds_start": 424,
"cds_end": null,
"cds_length": 633,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM61",
"gene_hgnc_id": 27296,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"transcript": "XM_005270586.5",
"protein_id": "XP_005270643.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 205,
"cds_start": 409,
"cds_end": null,
"cds_length": 618,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM61",
"gene_hgnc_id": 27296,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Glu137Lys",
"transcript": "XM_011540912.3",
"protein_id": "XP_011539214.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 205,
"cds_start": 409,
"cds_end": null,
"cds_length": 618,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHCR24-DT",
"gene_hgnc_id": 53969,
"hgvs_c": "n.395G>A",
"hgvs_p": null,
"transcript": "ENST00000715513.1",
"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": 791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM61",
"gene_hgnc_id": 27296,
"hgvs_c": "n.342G>A",
"hgvs_p": null,
"transcript": "ENST00000715912.1",
"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": 744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000233271",
"gene_hgnc_id": null,
"hgvs_c": "n.362+19C>T",
"hgvs_p": null,
"transcript": "ENST00000436960.1",
"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": 428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMEM61",
"gene_hgnc_id": 27296,
"dbsnp": "rs201375691",
"frequency_reference_population": 0.0000055758005,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000410444,
"gnomad_genomes_af": 0.0000196995,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07533800601959229,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.116,
"revel_prediction": "Benign",
"alphamissense_score": 0.1075,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.234,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_182532.3",
"gene_symbol": "TMEM61",
"hgnc_id": 27296,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Glu142Lys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000715513.1",
"gene_symbol": "DHCR24-DT",
"hgnc_id": 53969,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.395G>A",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000436960.1",
"gene_symbol": "ENSG00000233271",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.362+19C>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
}