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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: 15-52415803-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=52415803&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 52415803,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001382347.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.612+342C>T",
"hgvs_p": null,
"transcript": "NM_001382347.1",
"protein_id": "NP_001369276.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1880,
"cds_start": -4,
"cds_end": null,
"cds_length": 5643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12130,
"mane_select": "ENST00000399233.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.612+342C>T",
"hgvs_p": null,
"transcript": "ENST00000399233.7",
"protein_id": "ENSP00000382179.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1880,
"cds_start": -4,
"cds_end": null,
"cds_length": 5643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12130,
"mane_select": "NM_001382347.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.612+342C>T",
"hgvs_p": null,
"transcript": "ENST00000399231.8",
"protein_id": "ENSP00000382177.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1855,
"cds_start": -4,
"cds_end": null,
"cds_length": 5568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.612+342C>T",
"hgvs_p": null,
"transcript": "ENST00000356338.11",
"protein_id": "ENSP00000348693.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1853,
"cds_start": -4,
"cds_end": null,
"cds_length": 5562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.-790C>T",
"hgvs_p": null,
"transcript": "XM_047432546.1",
"protein_id": "XP_047288502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1642,
"cds_start": -4,
"cds_end": null,
"cds_length": 4929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.684+342C>T",
"hgvs_p": null,
"transcript": "NM_001382348.1",
"protein_id": "NP_001369277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1904,
"cds_start": -4,
"cds_end": null,
"cds_length": 5715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.684+342C>T",
"hgvs_p": null,
"transcript": "NM_001382349.1",
"protein_id": "NP_001369278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1879,
"cds_start": -4,
"cds_end": null,
"cds_length": 5640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.612+342C>T",
"hgvs_p": null,
"transcript": "NM_000259.3",
"protein_id": "NP_000250.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1855,
"cds_start": -4,
"cds_end": null,
"cds_length": 5568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.612+342C>T",
"hgvs_p": null,
"transcript": "NM_001411135.1",
"protein_id": "NP_001398064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1852,
"cds_start": -4,
"cds_end": null,
"cds_length": 5559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.612+342C>T",
"hgvs_p": null,
"transcript": "ENST00000692556.1",
"protein_id": "ENSP00000510378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1852,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 5,
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"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.612+342C>T",
"hgvs_p": null,
"transcript": "ENST00000553916.6",
"protein_id": "ENSP00000451109.2",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "MYO5A",
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"transcript": "NM_001142495.2",
"protein_id": "NP_001135967.2",
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},
{
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"strand": false,
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],
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"intron_rank": 5,
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"gene_symbol": "MYO5A",
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"hgvs_c": "c.612+342C>T",
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"transcript": "ENST00000687574.1",
"protein_id": "ENSP00000510312.1",
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},
{
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],
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"gene_symbol": "MYO5A",
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"hgvs_c": "c.612+342C>T",
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"transcript": "ENST00000685053.1",
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},
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],
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},
{
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],
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"gene_symbol": "MYO5A",
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"transcript": "ENST00000687728.1",
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},
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],
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"gene_symbol": "MYO5A",
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"hgvs_c": "c.612+342C>T",
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"transcript": "ENST00000691028.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 4,
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"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "n.*296+342C>T",
"hgvs_p": null,
"transcript": "ENST00000556196.6",
"protein_id": "ENSP00000451178.1",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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},
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],
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},
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],
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},
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.612+342C>T",
"hgvs_p": null,
"transcript": "XM_047432540.1",
"protein_id": "XP_047288496.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 41,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MYO5A",
"gene_hgnc_id": 7602,
"hgvs_c": "c.612+342C>T",
"hgvs_p": null,
"transcript": "XM_047432541.1",
"protein_id": "XP_047288497.1",
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}
],
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}