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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: 22-42079785-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42079785&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42079785,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033318.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "NM_033318.5",
"protein_id": "NP_201575.3",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 107,
"cds_start": 17,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331479.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033318.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000331479.4",
"protein_id": "ENSP00000327467.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 107,
"cds_start": 17,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033318.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331479.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "n.86C>T",
"hgvs_p": null,
"transcript": "ENST00000484235.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000484235.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000924439.1",
"protein_id": "ENSP00000594498.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 119,
"cds_start": 17,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924439.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000874726.1",
"protein_id": "ENSP00000544785.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 107,
"cds_start": 17,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874726.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000874727.1",
"protein_id": "ENSP00000544786.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 107,
"cds_start": 17,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874727.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000874728.1",
"protein_id": "ENSP00000544787.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 107,
"cds_start": 17,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874728.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000874729.1",
"protein_id": "ENSP00000544788.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 107,
"cds_start": 17,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874729.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000874730.1",
"protein_id": "ENSP00000544789.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 107,
"cds_start": 17,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874730.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000874731.1",
"protein_id": "ENSP00000544790.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 107,
"cds_start": 17,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874731.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000874732.1",
"protein_id": "ENSP00000544791.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 107,
"cds_start": 17,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874732.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000924437.1",
"protein_id": "ENSP00000594496.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 107,
"cds_start": 17,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924437.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000951293.1",
"protein_id": "ENSP00000621352.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 107,
"cds_start": 17,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951293.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000924438.1",
"protein_id": "ENSP00000594497.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 105,
"cds_start": 17,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924438.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000924440.1",
"protein_id": "ENSP00000594499.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 68,
"cds_start": 17,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924440.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "XM_011530509.3",
"protein_id": "XP_011528811.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 107,
"cds_start": 17,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530509.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "n.17C>T",
"hgvs_p": null,
"transcript": "ENST00000422252.1",
"protein_id": "ENSP00000402623.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000422252.1"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000309045",
"gene_hgnc_id": null,
"hgvs_c": "n.166G>A",
"hgvs_p": null,
"transcript": "ENST00000838012.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000838012.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "n.86C>T",
"hgvs_p": null,
"transcript": "NR_146715.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_146715.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"hgvs_c": "n.-164C>T",
"hgvs_p": null,
"transcript": "NR_146717.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_146717.1"
}
],
"gene_symbol": "SMDT1",
"gene_hgnc_id": 25055,
"dbsnp": "rs1411016424",
"frequency_reference_population": 0.0000034370923,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000343709,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18302571773529053,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.119,
"revel_prediction": "Benign",
"alphamissense_score": 0.0919,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.043,
"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_033318.5",
"gene_symbol": "SMDT1",
"hgnc_id": 25055,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000838012.1",
"gene_symbol": "ENSG00000309045",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.166G>A",
"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
}