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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: 10-80081936-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=80081936&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 80081936,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001270371.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Cys93Ser",
"transcript": "ENST00000613758.4",
"protein_id": "ENSP00000482766.1",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 101,
"cds_start": 278,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613758.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.183G>C",
"hgvs_p": "p.Leu61Leu",
"transcript": "NM_025125.4",
"protein_id": "NP_079401.2",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 123,
"cds_start": 183,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372281.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025125.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.183G>C",
"hgvs_p": "p.Leu61Leu",
"transcript": "ENST00000372281.8",
"protein_id": "ENSP00000361355.3",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 123,
"cds_start": 183,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025125.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372281.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.243G>C",
"hgvs_p": "p.Leu81Leu",
"transcript": "ENST00000372273.7",
"protein_id": "ENSP00000361347.3",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 143,
"cds_start": 243,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372273.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "n.226G>C",
"hgvs_p": null,
"transcript": "ENST00000463029.5",
"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": "pseudogene",
"feature": "ENST00000463029.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "n.134G>C",
"hgvs_p": null,
"transcript": "ENST00000467529.5",
"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": "pseudogene",
"feature": "ENST00000467529.5"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.278G>C",
"hgvs_p": "p.Cys93Ser",
"transcript": "NM_001270371.2",
"protein_id": "NP_001257300.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 101,
"cds_start": 278,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270371.2"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.203G>C",
"hgvs_p": "p.Cys68Ser",
"transcript": "NM_001270374.2",
"protein_id": "NP_001257303.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 76,
"cds_start": 203,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270374.2"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.203G>C",
"hgvs_p": "p.Cys68Ser",
"transcript": "XM_011540193.4",
"protein_id": "XP_011538495.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 76,
"cds_start": 203,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540193.4"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.203G>C",
"hgvs_p": "p.Cys68Ser",
"transcript": "XM_047425783.1",
"protein_id": "XP_047281739.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 76,
"cds_start": 203,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425783.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.183G>C",
"hgvs_p": "p.Leu61Leu",
"transcript": "ENST00000896381.1",
"protein_id": "ENSP00000566440.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 161,
"cds_start": 183,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896381.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.255G>C",
"hgvs_p": "p.Leu85Leu",
"transcript": "NM_001270367.1",
"protein_id": "NP_001257296.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 147,
"cds_start": 255,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270367.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.255G>C",
"hgvs_p": "p.Leu85Leu",
"transcript": "NM_001270368.1",
"protein_id": "NP_001257297.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 108,
"cds_start": 255,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270368.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.255G>C",
"hgvs_p": "p.Leu85Leu",
"transcript": "NM_001270369.1",
"protein_id": "NP_001257298.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 108,
"cds_start": 255,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270369.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.183G>C",
"hgvs_p": "p.Leu61Leu",
"transcript": "NM_001270370.2",
"protein_id": "NP_001257299.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 103,
"cds_start": 183,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270370.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.183G>C",
"hgvs_p": "p.Leu61Leu",
"transcript": "ENST00000372274.5",
"protein_id": "ENSP00000361348.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 103,
"cds_start": 183,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372274.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.183G>C",
"hgvs_p": "p.Leu61Leu",
"transcript": "ENST00000372277.7",
"protein_id": "ENSP00000361351.3",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 103,
"cds_start": 183,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372277.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.114G>C",
"hgvs_p": "p.Leu38Leu",
"transcript": "ENST00000450179.1",
"protein_id": "ENSP00000393450.1",
"transcript_support_level": 3,
"aa_start": 38,
"aa_end": null,
"aa_length": 100,
"cds_start": 114,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450179.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.183G>C",
"hgvs_p": "p.Leu61Leu",
"transcript": "NM_001270372.2",
"protein_id": "NP_001257301.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 84,
"cds_start": 183,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270372.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.183G>C",
"hgvs_p": "p.Leu61Leu",
"transcript": "NM_001270373.2",
"protein_id": "NP_001257302.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 84,
"cds_start": 183,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270373.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.183G>C",
"hgvs_p": "p.Leu61Leu",
"transcript": "ENST00000372275.5",
"protein_id": "ENSP00000361349.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 84,
"cds_start": 183,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372275.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.210G>C",
"hgvs_p": "p.Leu70Leu",
"transcript": "XM_006717978.3",
"protein_id": "XP_006718041.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 132,
"cds_start": 210,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717978.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
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}
],
"message": null
}