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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: 15-30905753-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=30905753&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 30905753,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000362065.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.1090A>C",
"hgvs_p": "p.Asn364His",
"transcript": "NM_014967.5",
"protein_id": "NP_055782.3",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1090,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 4849,
"mane_select": "ENST00000362065.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.1090A>C",
"hgvs_p": "p.Asn364His",
"transcript": "ENST00000362065.9",
"protein_id": "ENSP00000354497.4",
"transcript_support_level": 1,
"aa_start": 364,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1090,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 4849,
"mane_select": "NM_014967.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.1090A>C",
"hgvs_p": "p.Asn364His",
"transcript": "ENST00000561594.5",
"protein_id": "ENSP00000455983.1",
"transcript_support_level": 1,
"aa_start": 364,
"aa_end": null,
"aa_length": 533,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 2738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.1090A>C",
"hgvs_p": "p.Asn364His",
"transcript": "ENST00000561607.6",
"protein_id": "ENSP00000454223.1",
"transcript_support_level": 1,
"aa_start": 364,
"aa_end": null,
"aa_length": 533,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 2687,
"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": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.1090A>C",
"hgvs_p": null,
"transcript": "ENST00000565280.5",
"protein_id": "ENSP00000455573.1",
"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": 4999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.1090A>C",
"hgvs_p": "p.Asn364His",
"transcript": "ENST00000656435.1",
"protein_id": "ENSP00000499534.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1090,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 4753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.1090A>C",
"hgvs_p": "p.Asn364His",
"transcript": "ENST00000657391.1",
"protein_id": "ENSP00000499703.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1090,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.1090A>C",
"hgvs_p": "p.Asn364His",
"transcript": "ENST00000670849.1",
"protein_id": "ENSP00000499638.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1090,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 4714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.1090A>C",
"hgvs_p": "p.Asn364His",
"transcript": "NM_001146094.2",
"protein_id": "NP_001139566.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 533,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.1090A>C",
"hgvs_p": "p.Asn364His",
"transcript": "NM_001146095.1",
"protein_id": "NP_001139567.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 533,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 2738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.1090A>C",
"hgvs_p": "p.Asn364His",
"transcript": "NM_001146096.2",
"protein_id": "NP_001139568.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 533,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.1090A>C",
"hgvs_p": "p.Asn364His",
"transcript": "ENST00000565466.5",
"protein_id": "ENSP00000454544.1",
"transcript_support_level": 2,
"aa_start": 364,
"aa_end": null,
"aa_length": 533,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.1090A>C",
"hgvs_p": "p.Asn364His",
"transcript": "ENST00000658773.1",
"protein_id": "ENSP00000499742.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 533,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 2157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.1090A>C",
"hgvs_p": "p.Asn364His",
"transcript": "XM_047432250.1",
"protein_id": "XP_047288206.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 904,
"cds_start": 1090,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.1090A>C",
"hgvs_p": "p.Asn364His",
"transcript": "XM_011521372.3",
"protein_id": "XP_011519674.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 609,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 2016,
"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": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.1267A>C",
"hgvs_p": null,
"transcript": "ENST00000602886.2",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 4441,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.1366A>C",
"hgvs_p": null,
"transcript": "ENST00000654013.1",
"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": 3090,
"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": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.1361A>C",
"hgvs_p": null,
"transcript": "ENST00000655421.1",
"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": 7929,
"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": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.1342A>C",
"hgvs_p": null,
"transcript": "ENST00000656307.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7413,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.583A>C",
"hgvs_p": null,
"transcript": "ENST00000661974.1",
"protein_id": "ENSP00000499390.1",
"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": 6476,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.1346A>C",
"hgvs_p": null,
"transcript": "ENST00000662114.1",
"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": 3463,
"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": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.1090A>C",
"hgvs_p": null,
"transcript": "ENST00000664070.1",
"protein_id": "ENSP00000499478.1",
"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": 5669,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.1329A>C",
"hgvs_p": null,
"transcript": "ENST00000665705.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 B:1",
"phenotype_combined": "Karyomegalic interstitial nephritis|not specified|not provided|FAN1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}