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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: 12-123204974-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=123204974&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 123204974,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000606320.6",
"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": 24,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.1195-1599G>C",
"hgvs_p": null,
"transcript": "NM_022782.4",
"protein_id": "NP_073619.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1183,
"cds_start": -4,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6369,
"mane_select": "ENST00000606320.6",
"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": 24,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.1195-1599G>C",
"hgvs_p": null,
"transcript": "ENST00000606320.6",
"protein_id": "ENSP00000475489.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1183,
"cds_start": -4,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6369,
"mane_select": "NM_022782.4",
"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": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "n.799-1890G>C",
"hgvs_p": null,
"transcript": "ENST00000302373.8",
"protein_id": "ENSP00000304096.5",
"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": 3097,
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "n.301-1890G>C",
"hgvs_p": null,
"transcript": "ENST00000539024.5",
"protein_id": "ENSP00000441764.1",
"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": 3414,
"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": 22,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.1105-1599G>C",
"hgvs_p": null,
"transcript": "ENST00000541076.6",
"protein_id": "ENSP00000445859.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1153,
"cds_start": -4,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6136,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.763-1599G>C",
"hgvs_p": null,
"transcript": "ENST00000539336.2",
"protein_id": "ENSP00000440007.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": -4,
"cds_end": null,
"cds_length": 1088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1090,
"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": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "n.*966-1599G>C",
"hgvs_p": null,
"transcript": "ENST00000545556.6",
"protein_id": "ENSP00000446249.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3634,
"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": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "n.1484-1599G>C",
"hgvs_p": null,
"transcript": "NR_103517.2",
"protein_id": null,
"transcript_support_level": null,
"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": 6108,
"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": 25,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.1195-1599G>C",
"hgvs_p": null,
"transcript": "XM_017018673.2",
"protein_id": "XP_016874162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1183,
"cds_start": -4,
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"cds_length": 3552,
"cdna_start": null,
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"cdna_length": 7726,
"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 8,
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"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.1195-1599G>C",
"hgvs_p": null,
"transcript": "XM_047428055.1",
"protein_id": "XP_047284011.1",
"transcript_support_level": null,
"aa_start": null,
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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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"gene_symbol": "MPHOSPH9",
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"hgvs_c": "c.1195-1599G>C",
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"transcript": "XM_047428056.1",
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},
{
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],
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},
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],
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"gene_symbol": "MPHOSPH9",
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},
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],
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"gene_symbol": "MPHOSPH9",
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],
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},
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},
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],
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"gene_symbol": "MPHOSPH9",
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},
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],
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"gene_symbol": "MPHOSPH9",
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"transcript": "XM_017018677.2",
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},
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],
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"gene_symbol": "MPHOSPH9",
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}