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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: 17-35352459-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35352459&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 35352459,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_152270.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "NM_001376007.1",
"protein_id": "NP_001362936.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000685675.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376007.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "ENST00000685675.1",
"protein_id": "ENSP00000510787.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001376007.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685675.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "ENST00000308377.8",
"protein_id": "ENSP00000312402.4",
"transcript_support_level": 1,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308377.8"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "NM_001104587.2",
"protein_id": "NP_001098057.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001104587.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "NM_001104588.2",
"protein_id": "NP_001098058.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001104588.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "NM_001104589.2",
"protein_id": "NP_001098059.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001104589.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "NM_001104590.2",
"protein_id": "NP_001098060.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001104590.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "NM_001376008.1",
"protein_id": "NP_001362937.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376008.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "NM_001376009.1",
"protein_id": "NP_001362938.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376009.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "NM_001376010.1",
"protein_id": "NP_001362939.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376010.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "NM_001376011.1",
"protein_id": "NP_001362940.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376011.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "NM_001387158.1",
"protein_id": "NP_001374087.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387158.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "NM_001387159.1",
"protein_id": "NP_001374088.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387159.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "NM_001387160.1",
"protein_id": "NP_001374089.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387160.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "NM_001387161.1",
"protein_id": "NP_001374090.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387161.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "NM_001387162.1",
"protein_id": "NP_001374091.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387162.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "NM_001387163.1",
"protein_id": "NP_001374092.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387163.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "NM_152270.4",
"protein_id": "NP_689483.3",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152270.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "ENST00000394566.5",
"protein_id": "ENSP00000378067.1",
"transcript_support_level": 2,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394566.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "ENST00000884394.1",
"protein_id": "ENSP00000554453.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884394.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "ENST00000884395.1",
"protein_id": "ENSP00000554454.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 901,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884395.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "SLFN11",
"gene_hgnc_id": 26633,
"hgvs_c": "c.2603T>C",
"hgvs_p": "p.Ile868Thr",
"transcript": "ENST00000884396.1",
"protein_id": "ENSP00000554455.1",
"transcript_support_level": null,
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"clinvar_submissions_summary": "null",
"phenotype_combined": "Moyamoya angiopathy",
"pathogenicity_classification_combined": "Likely pathogenic",
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}
],
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}