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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: 17-75486004-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75486004&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75486004,
"ref": "C",
"alt": "G",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001438842.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.272+6C>G",
"hgvs_p": null,
"transcript": "NM_014738.6",
"protein_id": "NP_055553.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1356,
"cds_start": null,
"cds_end": null,
"cds_length": 4071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314256.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014738.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.272+6C>G",
"hgvs_p": null,
"transcript": "ENST00000314256.12",
"protein_id": "ENSP00000313885.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1356,
"cds_start": null,
"cds_end": null,
"cds_length": 4071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014738.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314256.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.272+6C>G",
"hgvs_p": null,
"transcript": "ENST00000956011.1",
"protein_id": "ENSP00000626070.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1387,
"cds_start": null,
"cds_end": null,
"cds_length": 4164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956011.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.272+6C>G",
"hgvs_p": null,
"transcript": "ENST00000861539.1",
"protein_id": "ENSP00000531598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1383,
"cds_start": null,
"cds_end": null,
"cds_length": 4152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861539.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.272+6C>G",
"hgvs_p": null,
"transcript": "NM_001438842.1",
"protein_id": "NP_001425771.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1370,
"cds_start": null,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438842.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.302+6C>G",
"hgvs_p": null,
"transcript": "NM_001438843.1",
"protein_id": "NP_001425772.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1370,
"cds_start": null,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438843.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.272+6C>G",
"hgvs_p": null,
"transcript": "ENST00000861530.1",
"protein_id": "ENSP00000531589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1370,
"cds_start": null,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861530.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.272+6C>G",
"hgvs_p": null,
"transcript": "ENST00000937076.1",
"protein_id": "ENSP00000607135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1368,
"cds_start": null,
"cds_end": null,
"cds_length": 4107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937076.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.272+6C>G",
"hgvs_p": null,
"transcript": "ENST00000937079.1",
"protein_id": "ENSP00000607138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1368,
"cds_start": null,
"cds_end": null,
"cds_length": 4107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937079.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.302+6C>G",
"hgvs_p": null,
"transcript": "NM_001321148.2",
"protein_id": "NP_001308077.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1366,
"cds_start": null,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321148.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.272+6C>G",
"hgvs_p": null,
"transcript": "NM_001438844.1",
"protein_id": "NP_001425773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1366,
"cds_start": null,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438844.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.302+6C>G",
"hgvs_p": null,
"transcript": "ENST00000375248.9",
"protein_id": "ENSP00000364397.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1366,
"cds_start": null,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375248.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.272+6C>G",
"hgvs_p": null,
"transcript": "ENST00000861536.1",
"protein_id": "ENSP00000531595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1366,
"cds_start": null,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861536.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.302+6C>G",
"hgvs_p": null,
"transcript": "NM_001351203.2",
"protein_id": "NP_001338132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1365,
"cds_start": null,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351203.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.272+6C>G",
"hgvs_p": null,
"transcript": "ENST00000861545.1",
"protein_id": "ENSP00000531604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1362,
"cds_start": null,
"cds_end": null,
"cds_length": 4089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861545.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.272+6C>G",
"hgvs_p": null,
"transcript": "NM_001321149.2",
"protein_id": "NP_001308078.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1360,
"cds_start": null,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321149.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.272+6C>G",
"hgvs_p": null,
"transcript": "ENST00000580918.2",
"protein_id": "ENSP00000464679.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 1360,
"cds_start": null,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580918.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.272+6C>G",
"hgvs_p": null,
"transcript": "NM_001438845.1",
"protein_id": "NP_001425774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1359,
"cds_start": null,
"cds_end": null,
"cds_length": 4080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438845.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.272+6C>G",
"hgvs_p": null,
"transcript": "ENST00000861537.1",
"protein_id": "ENSP00000531596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1359,
"cds_start": null,
"cds_end": null,
"cds_length": 4080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861537.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.272+6C>G",
"hgvs_p": null,
"transcript": "ENST00000861533.1",
"protein_id": "ENSP00000531592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1358,
"cds_start": null,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861533.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.272+6C>G",
"hgvs_p": null,
"transcript": "NM_001438841.1",
"protein_id": "NP_001425770.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1356,
"cds_start": null,
"cds_end": null,
"cds_length": 4071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438841.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM94",
"gene_hgnc_id": 28983,
"hgvs_c": "c.272+6C>G",
"hgvs_p": null,
"transcript": "ENST00000861550.1",
"protein_id": "ENSP00000531609.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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}
],
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}