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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: 11-77211335-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77211335&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 77211335,
"ref": "C",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000409709.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6235C>A",
"hgvs_p": "p.Arg2079Arg",
"transcript": "NM_000260.4",
"protein_id": "NP_000251.3",
"transcript_support_level": null,
"aa_start": 2079,
"aa_end": null,
"aa_length": 2215,
"cds_start": 6235,
"cds_end": null,
"cds_length": 6648,
"cdna_start": 6525,
"cdna_end": null,
"cdna_length": 7483,
"mane_select": "ENST00000409709.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6235C>A",
"hgvs_p": "p.Arg2079Arg",
"transcript": "ENST00000409709.9",
"protein_id": "ENSP00000386331.3",
"transcript_support_level": 1,
"aa_start": 2079,
"aa_end": null,
"aa_length": 2215,
"cds_start": 6235,
"cds_end": null,
"cds_length": 6648,
"cdna_start": 6525,
"cdna_end": null,
"cdna_length": 7483,
"mane_select": "NM_000260.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6121C>A",
"hgvs_p": "p.Arg2041Arg",
"transcript": "ENST00000458637.6",
"protein_id": "ENSP00000392185.2",
"transcript_support_level": 1,
"aa_start": 2041,
"aa_end": null,
"aa_length": 2175,
"cds_start": 6121,
"cds_end": null,
"cds_length": 6528,
"cdna_start": 6387,
"cdna_end": null,
"cdna_length": 7336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6088C>A",
"hgvs_p": "p.Arg2030Arg",
"transcript": "ENST00000409619.6",
"protein_id": "ENSP00000386635.2",
"transcript_support_level": 1,
"aa_start": 2030,
"aa_end": null,
"aa_length": 2166,
"cds_start": 6088,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 6435,
"cdna_end": null,
"cdna_length": 7106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.3661C>A",
"hgvs_p": "p.Arg1221Arg",
"transcript": "ENST00000458169.2",
"protein_id": "ENSP00000417017.2",
"transcript_support_level": 1,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1357,
"cds_start": 3661,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 3661,
"cdna_end": null,
"cdna_length": 4616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "n.*807C>A",
"hgvs_p": null,
"transcript": "ENST00000670577.1",
"protein_id": "ENSP00000499323.1",
"transcript_support_level": null,
"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": 4966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "n.*807C>A",
"hgvs_p": null,
"transcript": "ENST00000670577.1",
"protein_id": "ENSP00000499323.1",
"transcript_support_level": null,
"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": 4966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.*11C>A",
"hgvs_p": null,
"transcript": "XM_047426972.1",
"protein_id": "XP_047282928.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2095,
"cds_start": -4,
"cds_end": null,
"cds_length": 6288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6121C>A",
"hgvs_p": "p.Arg2041Arg",
"transcript": "NM_001127180.2",
"protein_id": "NP_001120652.1",
"transcript_support_level": null,
"aa_start": 2041,
"aa_end": null,
"aa_length": 2175,
"cds_start": 6121,
"cds_end": null,
"cds_length": 6528,
"cdna_start": 6411,
"cdna_end": null,
"cdna_length": 7363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6088C>A",
"hgvs_p": "p.Arg2030Arg",
"transcript": "NM_001369365.1",
"protein_id": "NP_001356294.1",
"transcript_support_level": null,
"aa_start": 2030,
"aa_end": null,
"aa_length": 2166,
"cds_start": 6088,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 6491,
"cdna_end": null,
"cdna_length": 7449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6325C>A",
"hgvs_p": "p.Arg2109Arg",
"transcript": "XM_011545046.3",
"protein_id": "XP_011543348.2",
"transcript_support_level": null,
"aa_start": 2109,
"aa_end": null,
"aa_length": 2258,
"cds_start": 6325,
"cds_end": null,
"cds_length": 6777,
"cdna_start": 6422,
"cdna_end": null,
"cdna_length": 7190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6319C>A",
"hgvs_p": "p.Arg2107Arg",
"transcript": "XM_017017778.2",
"protein_id": "XP_016873267.1",
"transcript_support_level": null,
"aa_start": 2107,
"aa_end": null,
"aa_length": 2256,
"cds_start": 6319,
"cds_end": null,
"cds_length": 6771,
"cdna_start": 6416,
"cdna_end": null,
"cdna_length": 7184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6316C>A",
"hgvs_p": "p.Arg2106Arg",
"transcript": "XM_017017779.2",
"protein_id": "XP_016873268.1",
"transcript_support_level": null,
"aa_start": 2106,
"aa_end": null,
"aa_length": 2255,
"cds_start": 6316,
"cds_end": null,
"cds_length": 6768,
"cdna_start": 6413,
"cdna_end": null,
"cdna_length": 7181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6325C>A",
"hgvs_p": "p.Arg2109Arg",
"transcript": "XM_017017780.2",
"protein_id": "XP_016873269.1",
"transcript_support_level": null,
"aa_start": 2109,
"aa_end": null,
"aa_length": 2245,
"cds_start": 6325,
"cds_end": null,
"cds_length": 6738,
"cdna_start": 6422,
"cdna_end": null,
"cdna_length": 7380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6235C>A",
"hgvs_p": "p.Arg2079Arg",
"transcript": "XM_011545044.3",
"protein_id": "XP_011543346.1",
"transcript_support_level": null,
"aa_start": 2079,
"aa_end": null,
"aa_length": 2228,
"cds_start": 6235,
"cds_end": null,
"cds_length": 6687,
"cdna_start": 6525,
"cdna_end": null,
"cdna_length": 7293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6229C>A",
"hgvs_p": "p.Arg2077Arg",
"transcript": "XM_017017781.2",
"protein_id": "XP_016873270.1",
"transcript_support_level": null,
"aa_start": 2077,
"aa_end": null,
"aa_length": 2226,
"cds_start": 6229,
"cds_end": null,
"cds_length": 6681,
"cdna_start": 6326,
"cdna_end": null,
"cdna_length": 7094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6211C>A",
"hgvs_p": "p.Arg2071Arg",
"transcript": "XM_017017782.2",
"protein_id": "XP_016873271.1",
"transcript_support_level": null,
"aa_start": 2071,
"aa_end": null,
"aa_length": 2220,
"cds_start": 6211,
"cds_end": null,
"cds_length": 6663,
"cdna_start": 6308,
"cdna_end": null,
"cdna_length": 7075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6208C>A",
"hgvs_p": "p.Arg2070Arg",
"transcript": "XM_017017783.2",
"protein_id": "XP_016873272.1",
"transcript_support_level": null,
"aa_start": 2070,
"aa_end": null,
"aa_length": 2219,
"cds_start": 6208,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 6305,
"cdna_end": null,
"cdna_length": 7072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6202C>A",
"hgvs_p": "p.Arg2068Arg",
"transcript": "XM_047426973.1",
"protein_id": "XP_047282929.1",
"transcript_support_level": null,
"aa_start": 2068,
"aa_end": null,
"aa_length": 2217,
"cds_start": 6202,
"cds_end": null,
"cds_length": 6654,
"cdna_start": 6309,
"cdna_end": null,
"cdna_length": 7077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6211C>A",
"hgvs_p": "p.Arg2071Arg",
"transcript": "XM_017017788.2",
"protein_id": "XP_016873277.1",
"transcript_support_level": null,
"aa_start": 2071,
"aa_end": null,
"aa_length": 2207,
"cds_start": 6211,
"cds_end": null,
"cds_length": 6624,
"cdna_start": 6308,
"cdna_end": null,
"cdna_length": 7266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6208C>A",
"hgvs_p": "p.Arg2070Arg",
"transcript": "XM_017017784.2",
"protein_id": "XP_016873273.1",
"transcript_support_level": null,
"aa_start": 2070,
"aa_end": null,
"aa_length": 2206,
"cds_start": 6208,
"cds_end": null,
"cds_length": 6621,
"cdna_start": 6305,
"cdna_end": null,
"cdna_length": 7263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.6139C>A",
"hgvs_p": "p.Arg2047Arg",
"transcript": "XM_047426970.1",
"protein_id": "XP_047282926.1",
"transcript_support_level": null,
"aa_start": 2047,
"aa_end": null,
"aa_length": 2196,
"cds_start": 6139,
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}
],
"message": null
}