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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: 1-45640365-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45640365&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 45640365,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_021639.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "NM_021639.5",
"protein_id": "NP_067652.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355105.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021639.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000355105.8",
"protein_id": "ENSP00000347224.3",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021639.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355105.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "NM_001439214.1",
"protein_id": "NP_001426143.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439214.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000290795.7",
"protein_id": "ENSP00000290795.3",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290795.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000871064.1",
"protein_id": "ENSP00000541123.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871064.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000871066.1",
"protein_id": "ENSP00000541125.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871066.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000871067.1",
"protein_id": "ENSP00000541126.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871067.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000871068.1",
"protein_id": "ENSP00000541127.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871068.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000871069.1",
"protein_id": "ENSP00000541128.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871069.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000871070.1",
"protein_id": "ENSP00000541129.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871070.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000871071.1",
"protein_id": "ENSP00000541130.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871071.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000871072.1",
"protein_id": "ENSP00000541131.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871072.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000871073.1",
"protein_id": "ENSP00000541132.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871073.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000871074.1",
"protein_id": "ENSP00000541133.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871074.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000871076.1",
"protein_id": "ENSP00000541135.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871076.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000871077.1",
"protein_id": "ENSP00000541136.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871077.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000871078.1",
"protein_id": "ENSP00000541137.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871078.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000871081.1",
"protein_id": "ENSP00000541140.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871081.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000871084.1",
"protein_id": "ENSP00000541143.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871084.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000871085.1",
"protein_id": "ENSP00000541144.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871085.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000871086.1",
"protein_id": "ENSP00000541145.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871086.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1L1",
"gene_hgnc_id": 28843,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000871087.1",
"protein_id": "ENSP00000541146.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 474,
"cds_start": 589,
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