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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: 1-179551046-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=179551046&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 179551046,
"ref": "C",
"alt": "G",
"effect": "3_prime_UTR_variant",
"transcript": "NM_014625.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHS2",
"gene_hgnc_id": 13394,
"hgvs_c": "c.*127G>C",
"hgvs_p": null,
"transcript": "NM_014625.4",
"protein_id": "NP_055440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": -4,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": "ENST00000367615.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHS2",
"gene_hgnc_id": 13394,
"hgvs_c": "c.*127G>C",
"hgvs_p": null,
"transcript": "ENST00000367615.9",
"protein_id": "ENSP00000356587.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": -4,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": "NM_014625.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHS2",
"gene_hgnc_id": 13394,
"hgvs_c": "c.*127G>C",
"hgvs_p": null,
"transcript": "ENST00000367616.4",
"protein_id": "ENSP00000356588.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 315,
"cds_start": -4,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.3032-3466C>G",
"hgvs_p": null,
"transcript": "NM_144696.6",
"protein_id": "NP_653297.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1012,
"cds_start": -4,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3391,
"mane_select": "ENST00000367618.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.3032-3466C>G",
"hgvs_p": null,
"transcript": "ENST00000367618.8",
"protein_id": "ENSP00000356590.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1012,
"cds_start": -4,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3391,
"mane_select": "NM_144696.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.2612-3466C>G",
"hgvs_p": null,
"transcript": "ENST00000434088.1",
"protein_id": "ENSP00000391716.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 872,
"cds_start": -4,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "n.*1301-3466C>G",
"hgvs_p": null,
"transcript": "ENST00000511157.5",
"protein_id": "ENSP00000424373.1",
"transcript_support_level": 1,
"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": 3375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHS2",
"gene_hgnc_id": 13394,
"hgvs_c": "c.*127G>C",
"hgvs_p": null,
"transcript": "NM_001297575.2",
"protein_id": "NP_001284504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 315,
"cds_start": -4,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHS2",
"gene_hgnc_id": 13394,
"hgvs_c": "c.*127G>C",
"hgvs_p": null,
"transcript": "XM_005245483.4",
"protein_id": "XP_005245540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHS2",
"gene_hgnc_id": 13394,
"hgvs_c": "c.*127G>C",
"hgvs_p": null,
"transcript": "XM_017002298.2",
"protein_id": "XP_016857787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1537,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.*1207-3466C>G",
"hgvs_p": null,
"transcript": "ENST00000617277.4",
"protein_id": "ENSP00000482167.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "AXDND1",
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"hgvs_c": "n.471-3466C>G",
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"transcript": "ENST00000484455.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 8,
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"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "n.911-3466C>G",
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"transcript": "ENST00000484883.1",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "AXDND1",
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"hgvs_c": "n.3080-3466C>G",
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"protein_id": null,
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},
{
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],
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"transcript": "XM_011509165.2",
"protein_id": "XP_011507467.1",
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},
{
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],
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"gene_symbol": "AXDND1",
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"hgvs_c": "c.3038-3466C>G",
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],
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"gene_symbol": "AXDND1",
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"hgvs_c": "c.3038-3466C>G",
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},
{
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],
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"exon_count": 27,
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"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.3038-3466C>G",
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"transcript": "XM_011509168.2",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 25,
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"gene_symbol": "AXDND1",
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"hgvs_c": "c.2975-3466C>G",
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],
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},
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],
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},
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"consequences": [
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],
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"intron_rank": 25,
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"gene_symbol": "AXDND1",
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"hgvs_c": "c.2912-3466C>G",
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"transcript": "XM_024453104.2",
"protein_id": "XP_024308872.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 25,
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"gene_symbol": "AXDND1",
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"hgvs_c": "c.2912-3466C>G",
"hgvs_p": null,
"transcript": "XM_024453107.2",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.83,
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"phylop100way_prediction": "Benign",
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"acmg_score": -2,
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{
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"BP4_Strong"
],
"verdict": "Likely_benign",
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},
{
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],
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}
],
"clinvar_disease": " type 2,Nephrotic syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Nephrotic syndrome, type 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}