← 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: 4-158130843-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=158130843&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 158130843,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000585682.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Gly432Val",
"transcript": "NM_001128424.2",
"protein_id": "NP_001121896.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 519,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": "ENST00000585682.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Gly432Val",
"transcript": "ENST00000585682.6",
"protein_id": "ENSP00000465976.1",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 519,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": "NM_001128424.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.1319G>T",
"hgvs_p": "p.Gly440Val",
"transcript": "ENST00000393807.9",
"protein_id": "ENSP00000377396.4",
"transcript_support_level": 1,
"aa_start": 440,
"aa_end": null,
"aa_length": 527,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 4544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Gly432Val",
"transcript": "ENST00000296530.12",
"protein_id": "ENSP00000296530.7",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 519,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 4985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.1319G>T",
"hgvs_p": "p.Gly440Val",
"transcript": "NM_001031700.3",
"protein_id": "NP_001026870.2",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 527,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Gly432Val",
"transcript": "NM_016613.7",
"protein_id": "NP_057697.2",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 519,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.515G>T",
"hgvs_p": "p.Gly172Val",
"transcript": "ENST00000593260.1",
"protein_id": "ENSP00000468648.1",
"transcript_support_level": 4,
"aa_start": 172,
"aa_end": null,
"aa_length": 189,
"cds_start": 515,
"cds_end": null,
"cds_length": 572,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.413G>T",
"hgvs_p": "p.Gly138Val",
"transcript": "ENST00000590648.5",
"protein_id": "ENSP00000466811.1",
"transcript_support_level": 5,
"aa_start": 138,
"aa_end": null,
"aa_length": 186,
"cds_start": 413,
"cds_end": null,
"cds_length": 563,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.197G>T",
"hgvs_p": "p.Gly66Val",
"transcript": "ENST00000592586.1",
"protein_id": "ENSP00000465491.1",
"transcript_support_level": 4,
"aa_start": 66,
"aa_end": null,
"aa_length": 107,
"cds_start": 197,
"cds_end": null,
"cds_length": 324,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.1319G>T",
"hgvs_p": "p.Gly440Val",
"transcript": "XM_047415765.1",
"protein_id": "XP_047271721.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 527,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 4776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Gly432Val",
"transcript": "XM_024454078.2",
"protein_id": "XP_024309846.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 519,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 4756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Gly432Val",
"transcript": "XM_024454079.2",
"protein_id": "XP_024309847.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 519,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1672,
"cdna_end": null,
"cdna_length": 4870,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "n.541G>T",
"hgvs_p": null,
"transcript": "ENST00000589306.1",
"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": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7439658641815186,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.447,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5686,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.591,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000585682.6",
"gene_symbol": "GASK1B",
"hgnc_id": 25312,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Gly432Val"
}
],
"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
}