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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: 11-68161053-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68161053&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68161053,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000304363.9",
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1175-1882T>G",
"hgvs_p": null,
"transcript": "NM_017635.5",
"protein_id": "NP_060105.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 885,
"cds_start": -4,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5718,
"mane_select": "ENST00000304363.9",
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1175-1882T>G",
"hgvs_p": null,
"transcript": "ENST00000304363.9",
"protein_id": "ENSP00000305899.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 885,
"cds_start": -4,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5718,
"mane_select": "NM_017635.5",
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1175-1882T>G",
"hgvs_p": null,
"transcript": "ENST00000615954.4",
"protein_id": "ENSP00000484858.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 885,
"cds_start": -4,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "n.*383-1882T>G",
"hgvs_p": null,
"transcript": "ENST00000441488.6",
"protein_id": "ENSP00000411146.2",
"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": 2816,
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.1175-1882T>G",
"hgvs_p": null,
"transcript": "NM_001369426.1",
"protein_id": "NP_001356355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 885,
"cds_start": -4,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5719,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.962-1882T>G",
"hgvs_p": null,
"transcript": "ENST00000453170.6",
"protein_id": "ENSP00000406377.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 814,
"cds_start": -4,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.659-1882T>G",
"hgvs_p": null,
"transcript": "NM_001300907.1",
"protein_id": "NP_001287836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 713,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5835,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.659-1882T>G",
"hgvs_p": null,
"transcript": "NM_001369428.1",
"protein_id": "NP_001356357.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 713,
"cds_start": -4,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6092,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.659-1882T>G",
"hgvs_p": null,
"transcript": "NM_001369429.1",
"protein_id": "NP_001356358.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 713,
"cds_start": -4,
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"cds_length": 2142,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 9,
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"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.659-1882T>G",
"hgvs_p": null,
"transcript": "NM_001369430.1",
"protein_id": "NP_001356359.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 11,
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"gene_symbol": "KMT5B",
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"hgvs_c": "c.659-1882T>G",
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"transcript": "NM_001369431.1",
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},
{
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],
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},
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],
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"hgvs_c": "c.659-1882T>G",
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},
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],
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"gene_symbol": "KMT5B",
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],
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},
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],
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"gene_symbol": "KMT5B",
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},
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],
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"gene_symbol": "KMT5B",
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],
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},
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"strand": false,
"consequences": [
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],
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"gene_symbol": "KMT5B",
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"hgvs_c": "c.1175-1882T>G",
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"transcript": "XM_005274035.5",
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},
{
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"consequences": [
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],
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"gene_symbol": "KMT5B",
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}