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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: 1-179551360-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=179551360&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 179551360,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014625.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.965G>A",
"hgvs_p": "p.Arg322Gln",
"transcript": "NM_014625.4",
"protein_id": "NP_055440.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 383,
"cds_start": 965,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367615.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014625.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.965G>A",
"hgvs_p": "p.Arg322Gln",
"transcript": "ENST00000367615.9",
"protein_id": "ENSP00000356587.4",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 383,
"cds_start": 965,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014625.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367615.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.761G>A",
"hgvs_p": "p.Arg254Gln",
"transcript": "ENST00000367616.4",
"protein_id": "ENSP00000356588.4",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 315,
"cds_start": 761,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367616.4"
},
{
"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.3032-3152C>T",
"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": null,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367618.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144696.6"
},
{
"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.3032-3152C>T",
"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": null,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144696.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367618.8"
},
{
"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.2612-3152C>T",
"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": null,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434088.1"
},
{
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "n.*1301-3152C>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000511157.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.788G>A",
"hgvs_p": "p.Arg263Gln",
"transcript": "ENST00000902256.1",
"protein_id": "ENSP00000572315.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 324,
"cds_start": 788,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902256.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.761G>A",
"hgvs_p": "p.Arg254Gln",
"transcript": "NM_001297575.2",
"protein_id": "NP_001284504.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 315,
"cds_start": 761,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297575.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.788G>A",
"hgvs_p": "p.Arg263Gln",
"transcript": "XM_005245483.4",
"protein_id": "XP_005245540.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 324,
"cds_start": 788,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245483.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.632G>A",
"hgvs_p": "p.Arg211Gln",
"transcript": "XM_017002298.2",
"protein_id": "XP_016857787.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 272,
"cds_start": 632,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002298.2"
},
{
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.*1207-3152C>T",
"hgvs_p": null,
"transcript": "ENST00000617277.4",
"protein_id": "ENSP00000482167.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": null,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617277.4"
},
{
"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": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.3038-3152C>T",
"hgvs_p": null,
"transcript": "XM_011509165.2",
"protein_id": "XP_011507467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1014,
"cds_start": null,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509165.2"
},
{
"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": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.3038-3152C>T",
"hgvs_p": null,
"transcript": "XM_011509166.4",
"protein_id": "XP_011507468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1014,
"cds_start": null,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509166.4"
},
{
"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": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.3038-3152C>T",
"hgvs_p": null,
"transcript": "XM_011509167.4",
"protein_id": "XP_011507469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1014,
"cds_start": null,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509167.4"
},
{
"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": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.3038-3152C>T",
"hgvs_p": null,
"transcript": "XM_011509168.2",
"protein_id": "XP_011507470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1014,
"cds_start": null,
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"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509168.2"
},
{
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.2975-3152C>T",
"hgvs_p": null,
"transcript": "XM_011509169.2",
"protein_id": "XP_011507471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 993,
"cds_start": null,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509169.2"
},
{
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.2930-3152C>T",
"hgvs_p": null,
"transcript": "XM_011509170.2",
"protein_id": "XP_011507472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 978,
"cds_start": null,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509170.2"
},
{
"aa_ref": null,
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"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.2912-3152C>T",
"hgvs_p": null,
"transcript": "XM_011509171.2",
"protein_id": "XP_011507473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509171.2"
},
{
"aa_ref": null,
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"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.2912-3152C>T",
"hgvs_p": null,
"transcript": "XM_024453104.2",
"protein_id": "XP_024308872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453104.2"
},
{
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"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.2912-3152C>T",
"hgvs_p": null,
"transcript": "XM_024453107.2",
"protein_id": "XP_024308875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 972,
"cds_start": null,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453107.2"
},
{
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.2816-3152C>T",
"hgvs_p": null,
"transcript": "XM_011509174.2",
"protein_id": "XP_011507476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 940,
"cds_start": null,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509174.2"
},
{
"aa_ref": null,
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{
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"PP3_Strong",
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"verdict": "Likely_pathogenic",
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{
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"verdict": "Likely_pathogenic",
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],
"clinvar_disease": " type 2,Nephrotic syndrome",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:2",
"phenotype_combined": "Nephrotic syndrome, type 2",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}