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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: 11-77205488-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77205488&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 77205488,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000260.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5507T>C",
"hgvs_p": "p.Leu1836Pro",
"transcript": "NM_000260.4",
"protein_id": "NP_000251.3",
"transcript_support_level": null,
"aa_start": 1836,
"aa_end": null,
"aa_length": 2215,
"cds_start": 5507,
"cds_end": null,
"cds_length": 6648,
"cdna_start": 5797,
"cdna_end": null,
"cdna_length": 7483,
"mane_select": "ENST00000409709.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000260.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5507T>C",
"hgvs_p": "p.Leu1836Pro",
"transcript": "ENST00000409709.9",
"protein_id": "ENSP00000386331.3",
"transcript_support_level": 1,
"aa_start": 1836,
"aa_end": null,
"aa_length": 2215,
"cds_start": 5507,
"cds_end": null,
"cds_length": 6648,
"cdna_start": 5797,
"cdna_end": null,
"cdna_length": 7483,
"mane_select": "NM_000260.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409709.9"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5393T>C",
"hgvs_p": "p.Leu1798Pro",
"transcript": "ENST00000458637.6",
"protein_id": "ENSP00000392185.2",
"transcript_support_level": 1,
"aa_start": 1798,
"aa_end": null,
"aa_length": 2175,
"cds_start": 5393,
"cds_end": null,
"cds_length": 6528,
"cdna_start": 5659,
"cdna_end": null,
"cdna_length": 7336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458637.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5360T>C",
"hgvs_p": "p.Leu1787Pro",
"transcript": "ENST00000409619.6",
"protein_id": "ENSP00000386635.2",
"transcript_support_level": 1,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2166,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 5707,
"cdna_end": null,
"cdna_length": 7106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409619.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.2933T>C",
"hgvs_p": "p.Leu978Pro",
"transcript": "ENST00000458169.2",
"protein_id": "ENSP00000417017.2",
"transcript_support_level": 1,
"aa_start": 978,
"aa_end": null,
"aa_length": 1357,
"cds_start": 2933,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 4616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458169.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "n.*105T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4966,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000670577.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "n.*105T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4966,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000670577.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5513T>C",
"hgvs_p": "p.Leu1838Pro",
"transcript": "ENST00000962572.1",
"protein_id": "ENSP00000632631.1",
"transcript_support_level": null,
"aa_start": 1838,
"aa_end": null,
"aa_length": 2217,
"cds_start": 5513,
"cds_end": null,
"cds_length": 6654,
"cdna_start": 5800,
"cdna_end": null,
"cdna_length": 7485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962572.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5504T>C",
"hgvs_p": "p.Leu1835Pro",
"transcript": "ENST00000962571.1",
"protein_id": "ENSP00000632630.1",
"transcript_support_level": null,
"aa_start": 1835,
"aa_end": null,
"aa_length": 2214,
"cds_start": 5504,
"cds_end": null,
"cds_length": 6645,
"cdna_start": 5795,
"cdna_end": null,
"cdna_length": 7479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962571.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5393T>C",
"hgvs_p": "p.Leu1798Pro",
"transcript": "NM_001127180.2",
"protein_id": "NP_001120652.1",
"transcript_support_level": null,
"aa_start": 1798,
"aa_end": null,
"aa_length": 2175,
"cds_start": 5393,
"cds_end": null,
"cds_length": 6528,
"cdna_start": 5683,
"cdna_end": null,
"cdna_length": 7363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127180.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5360T>C",
"hgvs_p": "p.Leu1787Pro",
"transcript": "NM_001369365.1",
"protein_id": "NP_001356294.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2166,
"cds_start": 5360,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 5763,
"cdna_end": null,
"cdna_length": 7449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369365.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5597T>C",
"hgvs_p": "p.Leu1866Pro",
"transcript": "XM_011545046.3",
"protein_id": "XP_011543348.2",
"transcript_support_level": null,
"aa_start": 1866,
"aa_end": null,
"aa_length": 2258,
"cds_start": 5597,
"cds_end": null,
"cds_length": 6777,
"cdna_start": 5694,
"cdna_end": null,
"cdna_length": 7190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545046.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5591T>C",
"hgvs_p": "p.Leu1864Pro",
"transcript": "XM_017017778.2",
"protein_id": "XP_016873267.1",
"transcript_support_level": null,
"aa_start": 1864,
"aa_end": null,
"aa_length": 2256,
"cds_start": 5591,
"cds_end": null,
"cds_length": 6771,
"cdna_start": 5688,
"cdna_end": null,
"cdna_length": 7184,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017778.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5588T>C",
"hgvs_p": "p.Leu1863Pro",
"transcript": "XM_017017779.2",
"protein_id": "XP_016873268.1",
"transcript_support_level": null,
"aa_start": 1863,
"aa_end": null,
"aa_length": 2255,
"cds_start": 5588,
"cds_end": null,
"cds_length": 6768,
"cdna_start": 5685,
"cdna_end": null,
"cdna_length": 7181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017779.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5597T>C",
"hgvs_p": "p.Leu1866Pro",
"transcript": "XM_017017780.2",
"protein_id": "XP_016873269.1",
"transcript_support_level": null,
"aa_start": 1866,
"aa_end": null,
"aa_length": 2245,
"cds_start": 5597,
"cds_end": null,
"cds_length": 6738,
"cdna_start": 5694,
"cdna_end": null,
"cdna_length": 7380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017780.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5507T>C",
"hgvs_p": "p.Leu1836Pro",
"transcript": "XM_011545044.3",
"protein_id": "XP_011543346.1",
"transcript_support_level": null,
"aa_start": 1836,
"aa_end": null,
"aa_length": 2228,
"cds_start": 5507,
"cds_end": null,
"cds_length": 6687,
"cdna_start": 5797,
"cdna_end": null,
"cdna_length": 7293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545044.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5501T>C",
"hgvs_p": "p.Leu1834Pro",
"transcript": "XM_017017781.2",
"protein_id": "XP_016873270.1",
"transcript_support_level": null,
"aa_start": 1834,
"aa_end": null,
"aa_length": 2226,
"cds_start": 5501,
"cds_end": null,
"cds_length": 6681,
"cdna_start": 5598,
"cdna_end": null,
"cdna_length": 7094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017781.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5483T>C",
"hgvs_p": "p.Leu1828Pro",
"transcript": "XM_017017782.2",
"protein_id": "XP_016873271.1",
"transcript_support_level": null,
"aa_start": 1828,
"aa_end": null,
"aa_length": 2220,
"cds_start": 5483,
"cds_end": null,
"cds_length": 6663,
"cdna_start": 5580,
"cdna_end": null,
"cdna_length": 7075,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017782.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5480T>C",
"hgvs_p": "p.Leu1827Pro",
"transcript": "XM_017017783.2",
"protein_id": "XP_016873272.1",
"transcript_support_level": null,
"aa_start": 1827,
"aa_end": null,
"aa_length": 2219,
"cds_start": 5480,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 5577,
"cdna_end": null,
"cdna_length": 7072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017783.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5474T>C",
"hgvs_p": "p.Leu1825Pro",
"transcript": "XM_047426973.1",
"protein_id": "XP_047282929.1",
"transcript_support_level": null,
"aa_start": 1825,
"aa_end": null,
"aa_length": 2217,
"cds_start": 5474,
"cds_end": null,
"cds_length": 6654,
"cdna_start": 5581,
"cdna_end": null,
"cdna_length": 7077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426973.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5483T>C",
"hgvs_p": "p.Leu1828Pro",
"transcript": "XM_017017788.2",
"protein_id": "XP_016873277.1",
"transcript_support_level": null,
"aa_start": 1828,
"aa_end": null,
"aa_length": 2207,
"cds_start": 5483,
"cds_end": null,
"cds_length": 6624,
"cdna_start": 5580,
"cdna_end": null,
"cdna_length": 7266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017788.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5480T>C",
"hgvs_p": "p.Leu1827Pro",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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{
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Autosomal recessive nonsyndromic hearing loss 2;Usher syndrome type 1|not provided|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}