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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: 22-30461682-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30461682&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30461682,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_174975.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L3",
"gene_hgnc_id": 18655,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Gly262Arg",
"transcript": "NM_174975.5",
"protein_id": "NP_777635.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 400,
"cds_start": 784,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000215812.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174975.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L3",
"gene_hgnc_id": 18655,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Gly262Arg",
"transcript": "ENST00000215812.9",
"protein_id": "ENSP00000215812.5",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 400,
"cds_start": 784,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_174975.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000215812.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L3",
"gene_hgnc_id": 18655,
"hgvs_c": "c.607G>A",
"hgvs_p": "p.Gly203Arg",
"transcript": "ENST00000401751.5",
"protein_id": "ENSP00000383896.1",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 341,
"cds_start": 607,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401751.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "SEC14L3",
"gene_hgnc_id": 18655,
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"transcript": "ENST00000402286.5",
"protein_id": "ENSP00000385004.1",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 323,
"cds_start": 553,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402286.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L3",
"gene_hgnc_id": 18655,
"hgvs_c": "n.*746G>A",
"hgvs_p": null,
"transcript": "ENST00000434642.5",
"protein_id": "ENSP00000405055.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000434642.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L3",
"gene_hgnc_id": 18655,
"hgvs_c": "n.*746G>A",
"hgvs_p": null,
"transcript": "ENST00000434642.5",
"protein_id": "ENSP00000405055.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000434642.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L3",
"gene_hgnc_id": 18655,
"hgvs_c": "c.607G>A",
"hgvs_p": "p.Gly203Arg",
"transcript": "NM_001376914.1",
"protein_id": "NP_001363843.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 353,
"cds_start": 607,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376914.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L3",
"gene_hgnc_id": 18655,
"hgvs_c": "c.607G>A",
"hgvs_p": "p.Gly203Arg",
"transcript": "ENST00000403066.5",
"protein_id": "ENSP00000385941.1",
"transcript_support_level": 2,
"aa_start": 203,
"aa_end": null,
"aa_length": 353,
"cds_start": 607,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403066.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L3",
"gene_hgnc_id": 18655,
"hgvs_c": "c.607G>A",
"hgvs_p": "p.Gly203Arg",
"transcript": "NM_001257379.2",
"protein_id": "NP_001244308.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 341,
"cds_start": 607,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257379.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L3",
"gene_hgnc_id": 18655,
"hgvs_c": "c.607G>A",
"hgvs_p": "p.Gly203Arg",
"transcript": "NM_001257382.2",
"protein_id": "NP_001244311.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 341,
"cds_start": 607,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257382.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L3",
"gene_hgnc_id": 18655,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Gly199Arg",
"transcript": "ENST00000859021.1",
"protein_id": "ENSP00000529080.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 337,
"cds_start": 595,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859021.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "SEC14L3",
"gene_hgnc_id": 18655,
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"transcript": "NM_001257378.2",
"protein_id": "NP_001244307.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 323,
"cds_start": 553,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257378.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L3",
"gene_hgnc_id": 18655,
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Arg",
"transcript": "ENST00000540910.5",
"protein_id": "ENSP00000439752.1",
"transcript_support_level": 5,
"aa_start": 185,
"aa_end": null,
"aa_length": 323,
"cds_start": 553,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540910.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L3",
"gene_hgnc_id": 18655,
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Gly227Arg",
"transcript": "ENST00000435069.1",
"protein_id": "ENSP00000402986.1",
"transcript_support_level": 5,
"aa_start": 227,
"aa_end": null,
"aa_length": 229,
"cds_start": 679,
"cds_end": null,
"cds_length": 691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435069.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L3",
"gene_hgnc_id": 18655,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Gly262Arg",
"transcript": "XM_011530128.3",
"protein_id": "XP_011528430.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 412,
"cds_start": 784,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530128.3"
}
],
"gene_symbol": "SEC14L3",
"gene_hgnc_id": 18655,
"dbsnp": "rs768796797",
"frequency_reference_population": 0.0000644906,
"hom_count_reference_population": 0,
"allele_count_reference_population": 104,
"gnomad_exomes_af": 0.000054777,
"gnomad_genomes_af": 0.000157718,
"gnomad_exomes_ac": 80,
"gnomad_genomes_ac": 24,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8053351640701294,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.45,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6922,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.609,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_174975.5",
"gene_symbol": "SEC14L3",
"hgnc_id": 18655,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Gly262Arg"
}
],
"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
}