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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: 5-34929913-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=34929913&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 34929913,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001012339.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.94C>G",
"hgvs_p": "p.Pro32Ala",
"transcript": "NM_001012339.3",
"protein_id": "NP_001012339.2",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 531,
"cds_start": 94,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 6107,
"mane_select": "ENST00000648817.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.94C>G",
"hgvs_p": "p.Pro32Ala",
"transcript": "ENST00000648817.1",
"protein_id": "ENSP00000497410.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 531,
"cds_start": 94,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 6107,
"mane_select": "NM_001012339.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.94C>G",
"hgvs_p": "p.Pro32Ala",
"transcript": "NM_194283.4",
"protein_id": "NP_919259.3",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 576,
"cds_start": 94,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 6242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.94C>G",
"hgvs_p": "p.Pro32Ala",
"transcript": "ENST00000382021.2",
"protein_id": "ENSP00000371451.2",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 576,
"cds_start": 94,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 6208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.94C>G",
"hgvs_p": "p.Pro32Ala",
"transcript": "NM_001348420.2",
"protein_id": "NP_001335349.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 544,
"cds_start": 94,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 6146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.94C>G",
"hgvs_p": "p.Pro32Ala",
"transcript": "ENST00000642851.1",
"protein_id": "ENSP00000496545.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 544,
"cds_start": 94,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.355C>G",
"hgvs_p": "p.Pro119Ala",
"transcript": "XM_011513965.3",
"protein_id": "XP_011512267.2",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 676,
"cds_start": 355,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 6281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.355C>G",
"hgvs_p": "p.Pro119Ala",
"transcript": "XM_011513966.3",
"protein_id": "XP_011512268.2",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 598,
"cds_start": 355,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.355C>G",
"hgvs_p": "p.Pro119Ala",
"transcript": "XM_047416719.1",
"protein_id": "XP_047272675.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 585,
"cds_start": 355,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 3496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.355C>G",
"hgvs_p": "p.Pro119Ala",
"transcript": "XM_005248250.4",
"protein_id": "XP_005248307.2",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 553,
"cds_start": 355,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 3400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.355C>G",
"hgvs_p": "p.Pro119Ala",
"transcript": "XM_047416720.1",
"protein_id": "XP_047272676.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 540,
"cds_start": 355,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "n.321C>G",
"hgvs_p": null,
"transcript": "ENST00000512136.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 3995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.-255C>G",
"hgvs_p": null,
"transcript": "ENST00000506762.2",
"protein_id": "ENSP00000513864.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": -4,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.-700C>G",
"hgvs_p": null,
"transcript": "XM_047416722.1",
"protein_id": "XP_047272678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": -4,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.-700C>G",
"hgvs_p": null,
"transcript": "ENST00000642285.1",
"protein_id": "ENSP00000493883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": -4,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.-700C>G",
"hgvs_p": null,
"transcript": "ENST00000644357.2",
"protein_id": "ENSP00000493850.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "c.-700C>G",
"hgvs_p": null,
"transcript": "ENST00000642675.1",
"protein_id": "ENSP00000494173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": -4,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "n.-700C>G",
"hgvs_p": null,
"transcript": "ENST00000646714.1",
"protein_id": "ENSP00000495883.1",
"transcript_support_level": null,
"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": 2989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "n.-194C>G",
"hgvs_p": null,
"transcript": "ENST00000698657.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"hgvs_c": "n.-194C>G",
"hgvs_p": null,
"transcript": "ENST00000698658.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124900961",
"gene_hgnc_id": null,
"hgvs_c": "n.-232G>C",
"hgvs_p": null,
"transcript": "XR_007058731.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAJC21",
"gene_hgnc_id": 27030,
"dbsnp": "rs879253818",
"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": 0.9804473519325256,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.876,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9844,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.948,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001012339.3",
"gene_symbol": "DNAJC21",
"hgnc_id": 27030,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.94C>G",
"hgvs_p": "p.Pro32Ala"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "XR_007058731.1",
"gene_symbol": "LOC124900961",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-232G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Bone marrow failure syndrome 3,Inherited bone marrow failure syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Bone marrow failure syndrome 3|Inherited bone marrow failure syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}