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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: 15-52313703-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=52313703&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 52313703,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001382347.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5636G>C",
"hgvs_p": "p.Arg1879Pro",
"transcript": "NM_001382347.1",
"protein_id": "NP_001369276.1",
"transcript_support_level": null,
"aa_start": 1879,
"aa_end": null,
"aa_length": 1880,
"cds_start": 5636,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 5710,
"cdna_end": null,
"cdna_length": 12130,
"mane_select": "ENST00000399233.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5636G>C",
"hgvs_p": "p.Arg1879Pro",
"transcript": "ENST00000399233.7",
"protein_id": "ENSP00000382179.4",
"transcript_support_level": 5,
"aa_start": 1879,
"aa_end": null,
"aa_length": 1880,
"cds_start": 5636,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 5710,
"cdna_end": null,
"cdna_length": 12130,
"mane_select": "NM_001382347.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5561G>C",
"hgvs_p": "p.Arg1854Pro",
"transcript": "ENST00000399231.8",
"protein_id": "ENSP00000382177.3",
"transcript_support_level": 1,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1855,
"cds_start": 5561,
"cds_end": null,
"cds_length": 5568,
"cdna_start": 5805,
"cdna_end": null,
"cdna_length": 12227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5555G>C",
"hgvs_p": "p.Arg1852Pro",
"transcript": "ENST00000356338.11",
"protein_id": "ENSP00000348693.7",
"transcript_support_level": 1,
"aa_start": 1852,
"aa_end": null,
"aa_length": 1853,
"cds_start": 5555,
"cds_end": null,
"cds_length": 5562,
"cdna_start": 5590,
"cdna_end": null,
"cdna_length": 12010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.2162G>C",
"hgvs_p": "p.Arg721Pro",
"transcript": "ENST00000399229.7",
"protein_id": "ENSP00000382175.3",
"transcript_support_level": 1,
"aa_start": 721,
"aa_end": null,
"aa_length": 722,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2162,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.*1328G>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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.*1328G>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": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5708G>C",
"hgvs_p": "p.Arg1903Pro",
"transcript": "NM_001382348.1",
"protein_id": "NP_001369277.1",
"transcript_support_level": null,
"aa_start": 1903,
"aa_end": null,
"aa_length": 1904,
"cds_start": 5708,
"cds_end": null,
"cds_length": 5715,
"cdna_start": 5830,
"cdna_end": null,
"cdna_length": 12250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5633G>C",
"hgvs_p": "p.Arg1878Pro",
"transcript": "NM_001382349.1",
"protein_id": "NP_001369278.1",
"transcript_support_level": null,
"aa_start": 1878,
"aa_end": null,
"aa_length": 1879,
"cds_start": 5633,
"cds_end": null,
"cds_length": 5640,
"cdna_start": 5755,
"cdna_end": null,
"cdna_length": 12175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5561G>C",
"hgvs_p": "p.Arg1854Pro",
"transcript": "NM_000259.3",
"protein_id": "NP_000250.3",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1855,
"cds_start": 5561,
"cds_end": null,
"cds_length": 5568,
"cdna_start": 5805,
"cdna_end": null,
"cdna_length": 12225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5552G>C",
"hgvs_p": "p.Arg1851Pro",
"transcript": "NM_001411135.1",
"protein_id": "NP_001398064.1",
"transcript_support_level": null,
"aa_start": 1851,
"aa_end": null,
"aa_length": 1852,
"cds_start": 5552,
"cds_end": null,
"cds_length": 5559,
"cdna_start": 5626,
"cdna_end": null,
"cdna_length": 12046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5552G>C",
"hgvs_p": "p.Arg1851Pro",
"transcript": "ENST00000692556.1",
"protein_id": "ENSP00000510378.1",
"transcript_support_level": null,
"aa_start": 1851,
"aa_end": null,
"aa_length": 1852,
"cds_start": 5552,
"cds_end": null,
"cds_length": 5559,
"cdna_start": 5552,
"cdna_end": null,
"cdna_length": 5579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5519G>C",
"hgvs_p": "p.Arg1840Pro",
"transcript": "ENST00000553916.6",
"protein_id": "ENSP00000451109.2",
"transcript_support_level": 5,
"aa_start": 1840,
"aa_end": null,
"aa_length": 1841,
"cds_start": 5519,
"cds_end": null,
"cds_length": 5526,
"cdna_start": 5593,
"cdna_end": null,
"cdna_length": 6186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5480G>C",
"hgvs_p": "p.Arg1827Pro",
"transcript": "NM_001142495.2",
"protein_id": "NP_001135967.2",
"transcript_support_level": null,
"aa_start": 1827,
"aa_end": null,
"aa_length": 1828,
"cds_start": 5480,
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"cds_length": 5487,
"cdna_start": 5554,
"cdna_end": null,
"cdna_length": 11974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5480G>C",
"hgvs_p": "p.Arg1827Pro",
"transcript": "ENST00000687574.1",
"protein_id": "ENSP00000510312.1",
"transcript_support_level": null,
"aa_start": 1827,
"aa_end": null,
"aa_length": 1828,
"cds_start": 5480,
"cds_end": null,
"cds_length": 5487,
"cdna_start": 5806,
"cdna_end": null,
"cdna_length": 12223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.3188G>C",
"hgvs_p": "p.Arg1063Pro",
"transcript": "ENST00000688074.1",
"protein_id": "ENSP00000509404.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1064,
"cds_start": 3188,
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"cdna_start": 3566,
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"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.3182G>C",
"hgvs_p": "p.Arg1061Pro",
"transcript": "ENST00000692646.1",
"protein_id": "ENSP00000510243.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1062,
"cds_start": 3182,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 3557,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.3116G>C",
"hgvs_p": "p.Arg1039Pro",
"transcript": "ENST00000685194.1",
"protein_id": "ENSP00000509314.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1040,
"cds_start": 3116,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 3429,
"cdna_end": null,
"cdna_length": 3871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5627G>C",
"hgvs_p": "p.Arg1876Pro",
"transcript": "XM_047432540.1",
"protein_id": "XP_047288496.1",
"transcript_support_level": null,
"aa_start": 1876,
"aa_end": null,
"aa_length": 1877,
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"cdna_start": 5871,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5555G>C",
"hgvs_p": "p.Arg1852Pro",
"transcript": "XM_047432541.1",
"protein_id": "XP_047288497.1",
"transcript_support_level": null,
"aa_start": 1852,
"aa_end": null,
"aa_length": 1853,
"cds_start": 5555,
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"cdna_start": 5799,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5546G>C",
"hgvs_p": "p.Arg1849Pro",
"transcript": "XM_047432543.1",
"protein_id": "XP_047288499.1",
"transcript_support_level": null,
"aa_start": 1849,
"aa_end": null,
"aa_length": 1850,
"cds_start": 5546,
"cds_end": null,
"cds_length": 5553,
"cdna_start": 5790,
"cdna_end": null,
"cdna_length": 12210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.5471G>C",
"hgvs_p": "p.Arg1824Pro",
"transcript": "XM_047432544.1",
"protein_id": "XP_047288500.1",
"transcript_support_level": null,
"aa_start": 1824,
"aa_end": null,
"aa_length": 1825,
"cds_start": 5471,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 5715,
"cdna_end": null,
"cdna_length": 12135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
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}