← 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: 1-78013530-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=78013530&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 78013530,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_007034.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Ile231Val",
"transcript": "NM_007034.5",
"protein_id": "NP_008965.2",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 337,
"cds_start": 691,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370763.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007034.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Ile231Val",
"transcript": "ENST00000370763.6",
"protein_id": "ENSP00000359799.5",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 337,
"cds_start": 691,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007034.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370763.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Ile231Val",
"transcript": "NM_001317099.2",
"protein_id": "NP_001304028.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 337,
"cds_start": 691,
"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": "NM_001317099.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Ile231Val",
"transcript": "ENST00000867099.1",
"protein_id": "ENSP00000537158.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 337,
"cds_start": 691,
"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": "ENST00000867099.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Ile231Val",
"transcript": "ENST00000867100.1",
"protein_id": "ENSP00000537159.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 337,
"cds_start": 691,
"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": "ENST00000867100.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Ile231Val",
"transcript": "ENST00000939131.1",
"protein_id": "ENSP00000609190.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 337,
"cds_start": 691,
"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": "ENST00000939131.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Ile231Val",
"transcript": "ENST00000939132.1",
"protein_id": "ENSP00000609191.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 337,
"cds_start": 691,
"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": "ENST00000939132.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Ile231Val",
"transcript": "ENST00000939133.1",
"protein_id": "ENSP00000609192.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 337,
"cds_start": 691,
"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": "ENST00000939133.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Ile231Val",
"transcript": "ENST00000939134.1",
"protein_id": "ENSP00000609193.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 337,
"cds_start": 691,
"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": "ENST00000939134.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Ile231Val",
"transcript": "ENST00000939135.1",
"protein_id": "ENSP00000609194.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 337,
"cds_start": 691,
"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": "ENST00000939135.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Ile231Val",
"transcript": "ENST00000939136.1",
"protein_id": "ENSP00000609195.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 337,
"cds_start": 691,
"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": "ENST00000939136.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Ile231Val",
"transcript": "ENST00000957220.1",
"protein_id": "ENSP00000627279.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 337,
"cds_start": 691,
"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": "ENST00000957220.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "c.571A>G",
"hgvs_p": "p.Ile191Val",
"transcript": "NM_001317100.2",
"protein_id": "NP_001304029.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 297,
"cds_start": 571,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317100.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "c.346A>G",
"hgvs_p": "p.Ile116Val",
"transcript": "NM_001317101.2",
"protein_id": "NP_001304030.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 222,
"cds_start": 346,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317101.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "c.346A>G",
"hgvs_p": "p.Ile116Val",
"transcript": "NM_001317102.2",
"protein_id": "NP_001304031.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 222,
"cds_start": 346,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317102.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "c.212-2484A>G",
"hgvs_p": null,
"transcript": "NM_001317103.2",
"protein_id": "NP_001304032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 77,
"cds_start": null,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317103.2"
},
{
"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": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "n.819A>G",
"hgvs_p": null,
"transcript": "ENST00000484662.1",
"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": "ENST00000484662.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "n.599A>G",
"hgvs_p": null,
"transcript": "ENST00000487931.1",
"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": "ENST00000487931.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "n.388-2484A>G",
"hgvs_p": null,
"transcript": "ENST00000476396.1",
"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": "ENST00000476396.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GIPC2",
"gene_hgnc_id": 18177,
"hgvs_c": "n.78+33911A>G",
"hgvs_p": null,
"transcript": "ENST00000476882.1",
"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": "ENST00000476882.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "c.*175A>G",
"hgvs_p": null,
"transcript": "ENST00000426517.1",
"protein_id": "ENSP00000399494.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": null,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426517.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"hgvs_c": "n.*16A>G",
"hgvs_p": null,
"transcript": "ENST00000477671.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000477671.2"
}
],
"gene_symbol": "DNAJB4",
"gene_hgnc_id": 14886,
"dbsnp": "rs751877573",
"frequency_reference_population": 0.000030988842,
"hom_count_reference_population": 0,
"allele_count_reference_population": 50,
"gnomad_exomes_af": 0.0000321638,
"gnomad_genomes_af": 0.0000197094,
"gnomad_exomes_ac": 47,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23844760656356812,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.303,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1269,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.373,
"phylop100way_prediction": "Uncertain_significance",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 2,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_007034.5",
"gene_symbol": "DNAJB4",
"hgnc_id": 14886,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.691A>G",
"hgvs_p": "p.Ile231Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000476882.1",
"gene_symbol": "GIPC2",
"hgnc_id": 18177,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.78+33911A>G",
"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
}