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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: 9-6887978-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=6887978&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 6887978,
"ref": "C",
"alt": "G",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001353999.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233Cys",
"transcript": "NM_015061.6",
"protein_id": "NP_055876.2",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1056,
"cds_start": 698,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381309.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015061.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233Cys",
"transcript": "ENST00000381309.8",
"protein_id": "ENSP00000370710.3",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 1056,
"cds_start": 698,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015061.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381309.8"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233Cys",
"transcript": "ENST00000536108.7",
"protein_id": "ENSP00000440656.4",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 813,
"cds_start": 698,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536108.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.-1538C>G",
"hgvs_p": null,
"transcript": "NM_001353999.3",
"protein_id": "NP_001340928.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 652,
"cds_start": null,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353999.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.-751C>G",
"hgvs_p": null,
"transcript": "NM_001354000.3",
"protein_id": "NP_001340929.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 619,
"cds_start": null,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354000.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.-1538C>G",
"hgvs_p": null,
"transcript": "NM_001354001.3",
"protein_id": "NP_001340930.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 619,
"cds_start": null,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354001.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233Cys",
"transcript": "NM_001353997.3",
"protein_id": "NP_001340926.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1089,
"cds_start": 698,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353997.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233Cys",
"transcript": "ENST00000948679.1",
"protein_id": "ENSP00000618738.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1056,
"cds_start": 698,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948679.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233Cys",
"transcript": "ENST00000948683.1",
"protein_id": "ENSP00000618742.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1056,
"cds_start": 698,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948683.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233Cys",
"transcript": "ENST00000381306.7",
"protein_id": "ENSP00000370707.3",
"transcript_support_level": 2,
"aa_start": 233,
"aa_end": null,
"aa_length": 1047,
"cds_start": 698,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381306.7"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233Cys",
"transcript": "ENST00000948680.1",
"protein_id": "ENSP00000618739.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1034,
"cds_start": 698,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948680.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233Cys",
"transcript": "NM_001304339.4",
"protein_id": "NP_001291268.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1023,
"cds_start": 698,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304339.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233Cys",
"transcript": "ENST00000934139.1",
"protein_id": "ENSP00000604198.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1001,
"cds_start": 698,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934139.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233Cys",
"transcript": "ENST00000871061.1",
"protein_id": "ENSP00000541120.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 999,
"cds_start": 698,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871061.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233Cys",
"transcript": "ENST00000948681.1",
"protein_id": "ENSP00000618740.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 994,
"cds_start": 698,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948681.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233Cys",
"transcript": "ENST00000871063.1",
"protein_id": "ENSP00000541122.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 957,
"cds_start": 698,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871063.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233Cys",
"transcript": "ENST00000871062.1",
"protein_id": "ENSP00000541121.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 924,
"cds_start": 698,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871062.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233Cys",
"transcript": "ENST00000948682.1",
"protein_id": "ENSP00000618741.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 904,
"cds_start": 698,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948682.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.764C>G",
"hgvs_p": "p.Ser255Cys",
"transcript": "NM_001146696.2",
"protein_id": "NP_001140168.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 835,
"cds_start": 764,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146696.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233Cys",
"transcript": "NM_001146695.4",
"protein_id": "NP_001140167.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 813,
"cds_start": 698,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146695.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233Cys",
"transcript": "ENST00000543771.5",
"protein_id": "ENSP00000445427.1",
"transcript_support_level": 2,
"aa_start": 233,
"aa_end": null,
"aa_length": 813,
"cds_start": 698,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543771.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM4C",
"gene_hgnc_id": 17071,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ser52Cys",
"transcript": "NM_001304340.4",
"protein_id": "NP_001291269.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 801,
"cds_start": 155,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}