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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: 5-147623658-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=147623658&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 147623658,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001270941.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2",
"gene_hgnc_id": 29067,
"hgvs_c": "c.2027C>T",
"hgvs_p": "p.Ala676Val",
"transcript": "NM_001270941.2",
"protein_id": "NP_001257870.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 820,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000616793.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270941.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2",
"gene_hgnc_id": 29067,
"hgvs_c": "c.2027C>T",
"hgvs_p": "p.Ala676Val",
"transcript": "ENST00000616793.5",
"protein_id": "ENSP00000479248.1",
"transcript_support_level": 5,
"aa_start": 676,
"aa_end": null,
"aa_length": 820,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001270941.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616793.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2",
"gene_hgnc_id": 29067,
"hgvs_c": "c.2027C>T",
"hgvs_p": "p.Ala676Val",
"transcript": "ENST00000265272.9",
"protein_id": "ENSP00000265272.5",
"transcript_support_level": 1,
"aa_start": 676,
"aa_end": null,
"aa_length": 810,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265272.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2",
"gene_hgnc_id": 29067,
"hgvs_c": "c.1964C>T",
"hgvs_p": "p.Ala655Val",
"transcript": "ENST00000507386.5",
"protein_id": "ENSP00000421398.1",
"transcript_support_level": 1,
"aa_start": 655,
"aa_end": null,
"aa_length": 799,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507386.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2",
"gene_hgnc_id": 29067,
"hgvs_c": "c.2027C>T",
"hgvs_p": "p.Ala676Val",
"transcript": "NM_014790.5",
"protein_id": "NP_055605.2",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 810,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014790.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2",
"gene_hgnc_id": 29067,
"hgvs_c": "c.1964C>T",
"hgvs_p": "p.Ala655Val",
"transcript": "NM_001270934.2",
"protein_id": "NP_001257863.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 799,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270934.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2",
"gene_hgnc_id": 29067,
"hgvs_c": "c.1907C>T",
"hgvs_p": "p.Ala636Val",
"transcript": "ENST00000920966.1",
"protein_id": "ENSP00000591025.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 780,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920966.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2",
"gene_hgnc_id": 29067,
"hgvs_c": "c.1901C>T",
"hgvs_p": "p.Ala634Val",
"transcript": "NM_001282282.2",
"protein_id": "NP_001269211.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 778,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282282.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2",
"gene_hgnc_id": 29067,
"hgvs_c": "c.1901C>T",
"hgvs_p": "p.Ala634Val",
"transcript": "ENST00000333010.6",
"protein_id": "ENSP00000328989.6",
"transcript_support_level": 2,
"aa_start": 634,
"aa_end": null,
"aa_length": 778,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333010.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2",
"gene_hgnc_id": 29067,
"hgvs_c": "c.1844C>T",
"hgvs_p": "p.Ala615Val",
"transcript": "ENST00000908873.1",
"protein_id": "ENSP00000578932.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 759,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908873.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2",
"gene_hgnc_id": 29067,
"hgvs_c": "c.1829C>T",
"hgvs_p": "p.Ala610Val",
"transcript": "ENST00000959520.1",
"protein_id": "ENSP00000629579.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 754,
"cds_start": 1829,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959520.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2",
"gene_hgnc_id": 29067,
"hgvs_c": "c.2027C>T",
"hgvs_p": "p.Ala676Val",
"transcript": "XM_047417949.1",
"protein_id": "XP_047273905.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 820,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417949.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2",
"gene_hgnc_id": 29067,
"hgvs_c": "c.1964C>T",
"hgvs_p": "p.Ala655Val",
"transcript": "XM_047417950.1",
"protein_id": "XP_047273906.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 799,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417950.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2",
"gene_hgnc_id": 29067,
"hgvs_c": "c.1964C>T",
"hgvs_p": "p.Ala655Val",
"transcript": "XM_047417951.1",
"protein_id": "XP_047273907.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 789,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417951.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2-AS1",
"gene_hgnc_id": 27203,
"hgvs_c": "n.363+28118G>A",
"hgvs_p": null,
"transcript": "ENST00000626945.2",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000626945.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2-AS1",
"gene_hgnc_id": 27203,
"hgvs_c": "n.386-12619G>A",
"hgvs_p": null,
"transcript": "ENST00000627433.4",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000627433.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2-AS1",
"gene_hgnc_id": 27203,
"hgvs_c": "n.442+28118G>A",
"hgvs_p": null,
"transcript": "ENST00000630514.3",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000630514.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2-AS1",
"gene_hgnc_id": 27203,
"hgvs_c": "n.379-12619G>A",
"hgvs_p": null,
"transcript": "ENST00000686563.1",
"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": "ENST00000686563.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2-AS1",
"gene_hgnc_id": 27203,
"hgvs_c": "n.379-12619G>A",
"hgvs_p": null,
"transcript": "ENST00000702407.1",
"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": "ENST00000702407.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "JAKMIP2-AS1",
"gene_hgnc_id": 27203,
"hgvs_c": "n.363+28118G>A",
"hgvs_p": null,
"transcript": "NR_038902.1",
"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_038902.1"
}
],
"gene_symbol": "JAKMIP2",
"gene_hgnc_id": 29067,
"dbsnp": "rs937478503",
"frequency_reference_population": 0.0000074465247,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000411098,
"gnomad_genomes_af": 0.0000394778,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3100796341896057,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.168,
"revel_prediction": "Benign",
"alphamissense_score": 0.4201,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.222,
"phylop100way_prediction": "Pathogenic",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001270941.2",
"gene_symbol": "JAKMIP2",
"hgnc_id": 29067,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2027C>T",
"hgvs_p": "p.Ala676Val"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000626945.2",
"gene_symbol": "JAKMIP2-AS1",
"hgnc_id": 27203,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.363+28118G>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
}