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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: 15-52319254-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=52319254&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 52319254,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000399233.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5040T>C",
"hgvs_p": "p.Asp1680Asp",
"transcript": "NM_001382347.1",
"protein_id": "NP_001369276.1",
"transcript_support_level": null,
"aa_start": 1680,
"aa_end": null,
"aa_length": 1880,
"cds_start": 5040,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 5114,
"cdna_end": null,
"cdna_length": 12130,
"mane_select": "ENST00000399233.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5040T>C",
"hgvs_p": "p.Asp1680Asp",
"transcript": "ENST00000399233.7",
"protein_id": "ENSP00000382179.4",
"transcript_support_level": 5,
"aa_start": 1680,
"aa_end": null,
"aa_length": 1880,
"cds_start": 5040,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 5114,
"cdna_end": null,
"cdna_length": 12130,
"mane_select": "NM_001382347.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4965T>C",
"hgvs_p": "p.Asp1655Asp",
"transcript": "ENST00000399231.8",
"protein_id": "ENSP00000382177.3",
"transcript_support_level": 1,
"aa_start": 1655,
"aa_end": null,
"aa_length": 1855,
"cds_start": 4965,
"cds_end": null,
"cds_length": 5568,
"cdna_start": 5209,
"cdna_end": null,
"cdna_length": 12227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4959T>C",
"hgvs_p": "p.Asp1653Asp",
"transcript": "ENST00000356338.11",
"protein_id": "ENSP00000348693.7",
"transcript_support_level": 1,
"aa_start": 1653,
"aa_end": null,
"aa_length": 1853,
"cds_start": 4959,
"cds_end": null,
"cds_length": 5562,
"cdna_start": 4994,
"cdna_end": null,
"cdna_length": 12010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.1566T>C",
"hgvs_p": "p.Asp522Asp",
"transcript": "ENST00000399229.7",
"protein_id": "ENSP00000382175.3",
"transcript_support_level": 1,
"aa_start": 522,
"aa_end": null,
"aa_length": 722,
"cds_start": 1566,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.*732T>C",
"hgvs_p": null,
"transcript": "ENST00000399228.6",
"protein_id": "ENSP00000382174.2",
"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": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.*732T>C",
"hgvs_p": null,
"transcript": "ENST00000399228.6",
"protein_id": "ENSP00000382174.2",
"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": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5112T>C",
"hgvs_p": "p.Asp1704Asp",
"transcript": "NM_001382348.1",
"protein_id": "NP_001369277.1",
"transcript_support_level": null,
"aa_start": 1704,
"aa_end": null,
"aa_length": 1904,
"cds_start": 5112,
"cds_end": null,
"cds_length": 5715,
"cdna_start": 5234,
"cdna_end": null,
"cdna_length": 12250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5037T>C",
"hgvs_p": "p.Asp1679Asp",
"transcript": "NM_001382349.1",
"protein_id": "NP_001369278.1",
"transcript_support_level": null,
"aa_start": 1679,
"aa_end": null,
"aa_length": 1879,
"cds_start": 5037,
"cds_end": null,
"cds_length": 5640,
"cdna_start": 5159,
"cdna_end": null,
"cdna_length": 12175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4965T>C",
"hgvs_p": "p.Asp1655Asp",
"transcript": "NM_000259.3",
"protein_id": "NP_000250.3",
"transcript_support_level": null,
"aa_start": 1655,
"aa_end": null,
"aa_length": 1855,
"cds_start": 4965,
"cds_end": null,
"cds_length": 5568,
"cdna_start": 5209,
"cdna_end": null,
"cdna_length": 12225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4956T>C",
"hgvs_p": "p.Asp1652Asp",
"transcript": "NM_001411135.1",
"protein_id": "NP_001398064.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1852,
"cds_start": 4956,
"cds_end": null,
"cds_length": 5559,
"cdna_start": 5030,
"cdna_end": null,
"cdna_length": 12046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4956T>C",
"hgvs_p": "p.Asp1652Asp",
"transcript": "ENST00000692556.1",
"protein_id": "ENSP00000510378.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1852,
"cds_start": 4956,
"cds_end": null,
"cds_length": 5559,
"cdna_start": 4956,
"cdna_end": null,
"cdna_length": 5579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4923T>C",
"hgvs_p": "p.Asp1641Asp",
"transcript": "ENST00000553916.6",
"protein_id": "ENSP00000451109.2",
"transcript_support_level": 5,
"aa_start": 1641,
"aa_end": null,
"aa_length": 1841,
"cds_start": 4923,
"cds_end": null,
"cds_length": 5526,
"cdna_start": 4997,
"cdna_end": null,
"cdna_length": 6186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4884T>C",
"hgvs_p": "p.Asp1628Asp",
"transcript": "NM_001142495.2",
"protein_id": "NP_001135967.2",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1828,
"cds_start": 4884,
"cds_end": null,
"cds_length": 5487,
"cdna_start": 4958,
"cdna_end": null,
"cdna_length": 11974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4884T>C",
"hgvs_p": "p.Asp1628Asp",
"transcript": "ENST00000687574.1",
"protein_id": "ENSP00000510312.1",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1828,
"cds_start": 4884,
"cds_end": null,
"cds_length": 5487,
"cdna_start": 5210,
"cdna_end": null,
"cdna_length": 12223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.2592T>C",
"hgvs_p": "p.Asp864Asp",
"transcript": "ENST00000688074.1",
"protein_id": "ENSP00000509404.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2592,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2970,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.2586T>C",
"hgvs_p": "p.Asp862Asp",
"transcript": "ENST00000692646.1",
"protein_id": "ENSP00000510243.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2586,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2961,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.2520T>C",
"hgvs_p": "p.Asp840Asp",
"transcript": "ENST00000685194.1",
"protein_id": "ENSP00000509314.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2520,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 2833,
"cdna_end": null,
"cdna_length": 3871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5031T>C",
"hgvs_p": "p.Asp1677Asp",
"transcript": "XM_047432540.1",
"protein_id": "XP_047288496.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 1877,
"cds_start": 5031,
"cds_end": null,
"cds_length": 5634,
"cdna_start": 5275,
"cdna_end": null,
"cdna_length": 12291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4959T>C",
"hgvs_p": "p.Asp1653Asp",
"transcript": "XM_047432541.1",
"protein_id": "XP_047288497.1",
"transcript_support_level": null,
"aa_start": 1653,
"aa_end": null,
"aa_length": 1853,
"cds_start": 4959,
"cds_end": null,
"cds_length": 5562,
"cdna_start": 5203,
"cdna_end": null,
"cdna_length": 12219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4950T>C",
"hgvs_p": "p.Asp1650Asp",
"transcript": "XM_047432543.1",
"protein_id": "XP_047288499.1",
"transcript_support_level": null,
"aa_start": 1650,
"aa_end": null,
"aa_length": 1850,
"cds_start": 4950,
"cds_end": null,
"cds_length": 5553,
"cdna_start": 5194,
"cdna_end": null,
"cdna_length": 12210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.4875T>C",
"hgvs_p": "p.Asp1625Asp",
"transcript": "XM_047432544.1",
"protein_id": "XP_047288500.1",
"transcript_support_level": null,
"aa_start": 1625,
"aa_end": null,
"aa_length": 1825,
"cds_start": 4875,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 5119,
"cdna_end": null,
"cdna_length": 12135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
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{
"score": -21,
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"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000399233.7",
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}