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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: 5-55626547-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=55626547&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 55626547,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_173514.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile",
"transcript": "NM_173514.4",
"protein_id": "NP_775785.2",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 561,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396865.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173514.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile",
"transcript": "ENST00000396865.7",
"protein_id": "ENSP00000380074.2",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 561,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173514.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396865.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile",
"transcript": "NM_001349382.1",
"protein_id": "NP_001336311.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 561,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349382.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile",
"transcript": "NM_001349383.1",
"protein_id": "NP_001336312.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 561,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349383.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile",
"transcript": "NM_001349384.1",
"protein_id": "NP_001336313.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 561,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349384.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile",
"transcript": "ENST00000318672.7",
"protein_id": "ENSP00000316596.3",
"transcript_support_level": 2,
"aa_start": 545,
"aa_end": null,
"aa_length": 561,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318672.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile",
"transcript": "ENST00000870431.1",
"protein_id": "ENSP00000540490.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 561,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870431.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile",
"transcript": "ENST00000917079.1",
"protein_id": "ENSP00000587138.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 561,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917079.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile",
"transcript": "ENST00000917084.1",
"protein_id": "ENSP00000587143.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 561,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917084.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile",
"transcript": "ENST00000917087.1",
"protein_id": "ENSP00000587146.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 561,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917087.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile",
"transcript": "ENST00000917089.1",
"protein_id": "ENSP00000587148.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 561,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917089.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile",
"transcript": "ENST00000917091.1",
"protein_id": "ENSP00000587150.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 561,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917091.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile",
"transcript": "ENST00000917092.1",
"protein_id": "ENSP00000587151.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 561,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917092.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile",
"transcript": "ENST00000945403.1",
"protein_id": "ENSP00000615462.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 561,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945403.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "ENST00000917085.1",
"protein_id": "ENSP00000587144.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 541,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917085.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile",
"transcript": "ENST00000870436.1",
"protein_id": "ENSP00000540495.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 538,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870436.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Ile",
"transcript": "ENST00000870430.1",
"protein_id": "ENSP00000540489.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 531,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870430.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Ile",
"transcript": "ENST00000917094.1",
"protein_id": "ENSP00000587153.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 531,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917094.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Val509Ile",
"transcript": "ENST00000870432.1",
"protein_id": "ENSP00000540491.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 525,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870432.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Val509Ile",
"transcript": "ENST00000917080.1",
"protein_id": "ENSP00000587139.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 525,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917080.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Val509Ile",
"transcript": "ENST00000945401.1",
"protein_id": "ENSP00000615460.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 525,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945401.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Val488Ile",
"transcript": "ENST00000870435.1",
"protein_id": "ENSP00000540494.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 504,
"cds_start": 1462,
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