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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: 15-78280080-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78280080&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 78280080,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018602.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305Cys",
"transcript": "NM_001130182.2",
"protein_id": "NP_001123654.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 397,
"cds_start": 913,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394852.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130182.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305Cys",
"transcript": "ENST00000394852.8",
"protein_id": "ENSP00000378321.3",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 397,
"cds_start": 913,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001130182.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394852.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.1000C>T",
"hgvs_p": "p.Arg334Cys",
"transcript": "ENST00000394855.7",
"protein_id": "ENSP00000378324.3",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 426,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394855.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "ENST00000446172.2",
"protein_id": "ENSP00000413499.2",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 370,
"cds_start": 832,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446172.2"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "n.944C>T",
"hgvs_p": null,
"transcript": "ENST00000480425.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000480425.1"
},
{
"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": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "n.768C>T",
"hgvs_p": null,
"transcript": "ENST00000493321.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000493321.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.1000C>T",
"hgvs_p": "p.Arg334Cys",
"transcript": "NM_018602.4",
"protein_id": "NP_061072.3",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 426,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018602.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Cys",
"transcript": "NM_001387384.1",
"protein_id": "NP_001374313.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 415,
"cds_start": 967,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387384.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305Cys",
"transcript": "NM_001387385.1",
"protein_id": "NP_001374314.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 397,
"cds_start": 913,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387385.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305Cys",
"transcript": "NM_001387388.1",
"protein_id": "NP_001374317.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 397,
"cds_start": 913,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387388.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305Cys",
"transcript": "ENST00000343789.7",
"protein_id": "ENSP00000339581.3",
"transcript_support_level": 5,
"aa_start": 305,
"aa_end": null,
"aa_length": 397,
"cds_start": 913,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343789.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305Cys",
"transcript": "ENST00000852616.1",
"protein_id": "ENSP00000522675.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 397,
"cds_start": 913,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852616.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "NM_001130183.2",
"protein_id": "NP_001123655.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 370,
"cds_start": 832,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130183.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Arg274Cys",
"transcript": "ENST00000959633.1",
"protein_id": "ENSP00000629692.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 366,
"cds_start": 820,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959633.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269Cys",
"transcript": "ENST00000959635.1",
"protein_id": "ENSP00000629694.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 361,
"cds_start": 805,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959635.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.784C>T",
"hgvs_p": "p.Arg262Cys",
"transcript": "ENST00000959632.1",
"protein_id": "ENSP00000629691.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 354,
"cds_start": 784,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959632.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.727C>T",
"hgvs_p": "p.Arg243Cys",
"transcript": "ENST00000959631.1",
"protein_id": "ENSP00000629690.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 335,
"cds_start": 727,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959631.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"transcript": "NM_001387386.1",
"protein_id": "NP_001374315.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 320,
"cds_start": 682,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387386.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"transcript": "ENST00000852615.1",
"protein_id": "ENSP00000522674.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 320,
"cds_start": 682,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852615.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.682C>T",
"hgvs_p": "p.Arg228Cys",
"transcript": "ENST00000959634.1",
"protein_id": "ENSP00000629693.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 320,
"cds_start": 682,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959634.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117Cys",
"transcript": "NM_001387387.1",
"protein_id": "NP_001374316.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 209,
"cds_start": 349,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387387.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJA4",
"gene_hgnc_id": 14885,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Cys",
"transcript": "XM_047432836.1",
"protein_id": "XP_047288792.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 444,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432836.1"
},
{
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"splice_prediction_selected": "Benign",
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{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 0,
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],
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],
"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
}