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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: 22-26453398-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=26453398&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 26453398,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000398145.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1962C>T",
"hgvs_p": "p.Ala654Ala",
"transcript": "NM_022081.6",
"protein_id": "NP_071364.4",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 708,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2550,
"cdna_end": null,
"cdna_length": 5066,
"mane_select": "ENST00000398145.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1962C>T",
"hgvs_p": "p.Ala654Ala",
"transcript": "ENST00000398145.7",
"protein_id": "ENSP00000381213.2",
"transcript_support_level": 1,
"aa_start": 654,
"aa_end": null,
"aa_length": 708,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2550,
"cdna_end": null,
"cdna_length": 5066,
"mane_select": "NM_022081.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1947C>T",
"hgvs_p": "p.Ala649Ala",
"transcript": "ENST00000402105.7",
"protein_id": "ENSP00000384185.3",
"transcript_support_level": 1,
"aa_start": 649,
"aa_end": null,
"aa_length": 703,
"cds_start": 1947,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2247,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "n.*1480C>T",
"hgvs_p": null,
"transcript": "ENST00000439453.5",
"protein_id": "ENSP00000406764.1",
"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": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "n.4821C>T",
"hgvs_p": null,
"transcript": "ENST00000466781.5",
"protein_id": null,
"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": 6136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "n.*1480C>T",
"hgvs_p": null,
"transcript": "ENST00000439453.5",
"protein_id": "ENSP00000406764.1",
"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": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1720C>T",
"hgvs_p": "p.Leu574Phe",
"transcript": "NM_001349902.1",
"protein_id": "NP_001336831.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 649,
"cds_start": 1720,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 4813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1720C>T",
"hgvs_p": "p.Leu574Phe",
"transcript": "NM_001349903.2",
"protein_id": "NP_001336832.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 649,
"cds_start": 1720,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1720C>T",
"hgvs_p": "p.Leu574Phe",
"transcript": "ENST00000699250.1",
"protein_id": "ENSP00000514237.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 649,
"cds_start": 1720,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 4164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1774C>T",
"hgvs_p": "p.Leu592Phe",
"transcript": "XM_047441575.1",
"protein_id": "XP_047297531.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 667,
"cds_start": 1774,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 2362,
"cdna_end": null,
"cdna_length": 4878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1774C>T",
"hgvs_p": "p.Leu592Phe",
"transcript": "XM_047441576.1",
"protein_id": "XP_047297532.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 667,
"cds_start": 1774,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 4867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1774C>T",
"hgvs_p": "p.Leu592Phe",
"transcript": "XM_047441577.1",
"protein_id": "XP_047297533.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 667,
"cds_start": 1774,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 2291,
"cdna_end": null,
"cdna_length": 4807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1720C>T",
"hgvs_p": "p.Leu574Phe",
"transcript": "XM_047441581.1",
"protein_id": "XP_047297537.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 649,
"cds_start": 1720,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2436,
"cdna_end": null,
"cdna_length": 4952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1720C>T",
"hgvs_p": "p.Leu574Phe",
"transcript": "XM_047441582.1",
"protein_id": "XP_047297538.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 649,
"cds_start": 1720,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2237,
"cdna_end": null,
"cdna_length": 4753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1720C>T",
"hgvs_p": "p.Leu574Phe",
"transcript": "XM_047441583.1",
"protein_id": "XP_047297539.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 649,
"cds_start": 1720,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2425,
"cdna_end": null,
"cdna_length": 4941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.2016C>T",
"hgvs_p": "p.Ala672Ala",
"transcript": "NM_001349900.2",
"protein_id": "NP_001336829.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 726,
"cds_start": 2016,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 2604,
"cdna_end": null,
"cdna_length": 5120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.2016C>T",
"hgvs_p": "p.Ala672Ala",
"transcript": "NM_001349901.1",
"protein_id": "NP_001336830.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 726,
"cds_start": 2016,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 2593,
"cdna_end": null,
"cdna_length": 5109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.2016C>T",
"hgvs_p": "p.Ala672Ala",
"transcript": "ENST00000422379.3",
"protein_id": "ENSP00000415081.3",
"transcript_support_level": 5,
"aa_start": 672,
"aa_end": null,
"aa_length": 726,
"cds_start": 2016,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 2513,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1962C>T",
"hgvs_p": "p.Ala654Ala",
"transcript": "NM_001349896.1",
"protein_id": "NP_001336825.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 708,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2539,
"cdna_end": null,
"cdna_length": 5055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1962C>T",
"hgvs_p": "p.Ala654Ala",
"transcript": "NM_001349898.2",
"protein_id": "NP_001336827.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 708,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2678,
"cdna_end": null,
"cdna_length": 5194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1962C>T",
"hgvs_p": "p.Ala654Ala",
"transcript": "NM_001349899.2",
"protein_id": "NP_001336828.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 708,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2479,
"cdna_end": null,
"cdna_length": 4995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1962C>T",
"hgvs_p": "p.Ala654Ala",
"transcript": "ENST00000336873.9",
"protein_id": "ENSP00000338457.5",
"transcript_support_level": 5,
"aa_start": 654,
"aa_end": null,
"aa_length": 708,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2471,
"cdna_end": null,
"cdna_length": 3786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.1962C>T",
"hgvs_p": "p.Ala654Ala",
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{
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"BP7",
"BS1",
"BS2"
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],
"clinvar_disease": "not provided,not specified",
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}