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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: 2-47051789-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47051789&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 47051789,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000319190.11",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.2061G>A",
"hgvs_p": "p.Glu687Glu",
"transcript": "NM_020458.4",
"protein_id": "NP_065191.2",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 858,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "ENST00000319190.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.2061G>A",
"hgvs_p": "p.Glu687Glu",
"transcript": "ENST00000319190.11",
"protein_id": "ENSP00000316699.5",
"transcript_support_level": 2,
"aa_start": 687,
"aa_end": null,
"aa_length": 858,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "NM_020458.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.2133G>A",
"hgvs_p": "p.Glu711Glu",
"transcript": "ENST00000394850.6",
"protein_id": "ENSP00000378320.2",
"transcript_support_level": 1,
"aa_start": 711,
"aa_end": null,
"aa_length": 882,
"cds_start": 2133,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 2389,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.*1810G>A",
"hgvs_p": null,
"transcript": "ENST00000409825.5",
"protein_id": "ENSP00000386521.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.*910G>A",
"hgvs_p": null,
"transcript": "ENST00000441914.5",
"protein_id": "ENSP00000393022.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.1168G>A",
"hgvs_p": null,
"transcript": "ENST00000484061.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.1465G>A",
"hgvs_p": null,
"transcript": "ENST00000491786.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.*1810G>A",
"hgvs_p": null,
"transcript": "ENST00000409825.5",
"protein_id": "ENSP00000386521.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.*910G>A",
"hgvs_p": null,
"transcript": "ENST00000441914.5",
"protein_id": "ENSP00000393022.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.2133G>A",
"hgvs_p": "p.Glu711Glu",
"transcript": "NM_001288951.2",
"protein_id": "NP_001275880.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 882,
"cds_start": 2133,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 2451,
"cdna_end": null,
"cdna_length": 5167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1959G>A",
"hgvs_p": "p.Glu653Glu",
"transcript": "NM_001288953.2",
"protein_id": "NP_001275882.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 824,
"cds_start": 1959,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2683,
"cdna_end": null,
"cdna_length": 5399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1959G>A",
"hgvs_p": "p.Glu653Glu",
"transcript": "ENST00000409245.5",
"protein_id": "ENSP00000386307.1",
"transcript_support_level": 2,
"aa_start": 653,
"aa_end": null,
"aa_length": 824,
"cds_start": 1959,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2392,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Glu333Glu",
"transcript": "NM_001288955.2",
"protein_id": "NP_001275884.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 504,
"cds_start": 999,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 4937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1944G>A",
"hgvs_p": "p.Glu648Glu",
"transcript": "XM_017004524.2",
"protein_id": "XP_016860013.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 819,
"cds_start": 1944,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 2262,
"cdna_end": null,
"cdna_length": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1893G>A",
"hgvs_p": "p.Glu631Glu",
"transcript": "XM_017004525.2",
"protein_id": "XP_016860014.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 802,
"cds_start": 1893,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 2715,
"cdna_end": null,
"cdna_length": 5431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1812G>A",
"hgvs_p": "p.Glu604Glu",
"transcript": "XM_017004526.2",
"protein_id": "XP_016860015.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 775,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 4846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1797G>A",
"hgvs_p": "p.Glu599Glu",
"transcript": "XM_047445148.1",
"protein_id": "XP_047301104.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 770,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1969,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1704G>A",
"hgvs_p": "p.Glu568Glu",
"transcript": "XM_047445145.1",
"protein_id": "XP_047301101.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 739,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 4487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Glu565Glu",
"transcript": "XM_047445146.1",
"protein_id": "XP_047301102.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 736,
"cds_start": 1695,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2013,
"cdna_end": null,
"cdna_length": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Glu427Glu",
"transcript": "XM_011533000.4",
"protein_id": "XP_011531302.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 598,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 4261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1026G>A",
"hgvs_p": "p.Glu342Glu",
"transcript": "XM_024453013.2",
"protein_id": "XP_024308781.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 513,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 3827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Glu338Glu",
"transcript": "XM_011533001.4",
"protein_id": "XP_011531303.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 509,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 4019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.474G>A",
"hgvs_p": null,
"transcript": "ENST00000484337.5",
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{
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}
],
"message": null
}