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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: 4-953305-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=953305&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 953305,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032326.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Pro193Leu",
"transcript": "NM_032326.4",
"protein_id": "NP_115702.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 504,
"cds_start": 578,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264771.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032326.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Pro193Leu",
"transcript": "ENST00000264771.9",
"protein_id": "ENSP00000264771.4",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 504,
"cds_start": 578,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032326.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264771.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Pro77Leu",
"transcript": "ENST00000622959.3",
"protein_id": "ENSP00000485461.1",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 388,
"cds_start": 230,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622959.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "n.*600C>T",
"hgvs_p": null,
"transcript": "ENST00000513952.5",
"protein_id": "ENSP00000427218.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513952.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "n.689C>T",
"hgvs_p": null,
"transcript": "ENST00000515876.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000515876.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "n.*600C>T",
"hgvs_p": null,
"transcript": "ENST00000513952.5",
"protein_id": "ENSP00000427218.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513952.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Pro193Leu",
"transcript": "ENST00000949494.1",
"protein_id": "ENSP00000619553.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 504,
"cds_start": 578,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949494.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Pro193Leu",
"transcript": "ENST00000949496.1",
"protein_id": "ENSP00000619555.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 504,
"cds_start": 578,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949496.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Pro193Leu",
"transcript": "ENST00000949497.1",
"protein_id": "ENSP00000619556.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 504,
"cds_start": 578,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949497.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Pro181Leu",
"transcript": "ENST00000949493.1",
"protein_id": "ENSP00000619552.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 492,
"cds_start": 542,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949493.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Pro180Leu",
"transcript": "ENST00000949498.1",
"protein_id": "ENSP00000619557.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 491,
"cds_start": 539,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949498.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Pro168Leu",
"transcript": "ENST00000949495.1",
"protein_id": "ENSP00000619554.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 479,
"cds_start": 503,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949495.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Pro165Leu",
"transcript": "ENST00000904683.1",
"protein_id": "ENSP00000574742.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 476,
"cds_start": 494,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904683.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Pro165Leu",
"transcript": "ENST00000904685.1",
"protein_id": "ENSP00000574744.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 476,
"cds_start": 494,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904685.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Pro153Leu",
"transcript": "ENST00000904686.1",
"protein_id": "ENSP00000574745.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 464,
"cds_start": 458,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904686.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Pro152Leu",
"transcript": "ENST00000904684.1",
"protein_id": "ENSP00000574743.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 463,
"cds_start": 455,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904684.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Pro111Leu",
"transcript": "NM_001297423.2",
"protein_id": "NP_001284352.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 422,
"cds_start": 332,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297423.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Pro111Leu",
"transcript": "NM_001297424.2",
"protein_id": "NP_001284353.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 422,
"cds_start": 332,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297424.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Pro111Leu",
"transcript": "NM_001297425.2",
"protein_id": "NP_001284354.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 422,
"cds_start": 332,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297425.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Pro111Leu",
"transcript": "ENST00000508204.5",
"protein_id": "ENSP00000423669.1",
"transcript_support_level": 3,
"aa_start": 111,
"aa_end": null,
"aa_length": 422,
"cds_start": 332,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508204.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Pro77Leu",
"transcript": "NM_001297426.2",
"protein_id": "NP_001284355.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 388,
"cds_start": 230,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297426.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM175",
"gene_hgnc_id": 28709,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Pro77Leu",
"transcript": "NM_001297427.2",
"protein_id": "NP_001284356.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 388,
"cds_start": 230,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297427.2"
},
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}