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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: 11-30445953-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=30445953&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 30445953,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000358117.10",
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MPPED2",
"gene_hgnc_id": 1180,
"hgvs_c": "c.537-28320C>A",
"hgvs_p": null,
"transcript": "NM_001584.3",
"protein_id": "NP_001575.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": -4,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": "ENST00000358117.10",
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MPPED2",
"gene_hgnc_id": 1180,
"hgvs_c": "c.537-28320C>A",
"hgvs_p": null,
"transcript": "ENST00000358117.10",
"protein_id": "ENSP00000350833.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": -4,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": "NM_001584.3",
"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": 4,
"intron_rank_end": null,
"gene_symbol": "MPPED2",
"gene_hgnc_id": 1180,
"hgvs_c": "c.537-28320C>A",
"hgvs_p": null,
"transcript": "ENST00000448418.6",
"protein_id": "ENSP00000388258.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5591,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MPPED2",
"gene_hgnc_id": 1180,
"hgvs_c": "n.*281-28320C>A",
"hgvs_p": null,
"transcript": "ENST00000526437.5",
"protein_id": "ENSP00000432469.1",
"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": 1469,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "MPPED2",
"gene_hgnc_id": 1180,
"hgvs_c": "c.537-28320C>A",
"hgvs_p": null,
"transcript": "NM_001377952.1",
"protein_id": "NP_001364881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": -4,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2614,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "MPPED2",
"gene_hgnc_id": 1180,
"hgvs_c": "c.537-28320C>A",
"hgvs_p": null,
"transcript": "NM_001377953.1",
"protein_id": "NP_001364882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": -4,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2647,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "MPPED2",
"gene_hgnc_id": 1180,
"hgvs_c": "c.537-28320C>A",
"hgvs_p": null,
"transcript": "NM_001377954.1",
"protein_id": "NP_001364883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": -4,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2325,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "MPPED2",
"gene_hgnc_id": 1180,
"hgvs_c": "c.537-28320C>A",
"hgvs_p": null,
"transcript": "NM_001377955.1",
"protein_id": "NP_001364884.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": -4,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2307,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "MPPED2",
"gene_hgnc_id": 1180,
"hgvs_c": "c.537-28320C>A",
"hgvs_p": null,
"transcript": "NM_001440301.1",
"protein_id": "NP_001427230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": -4,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 4,
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"gene_symbol": "MPPED2",
"gene_hgnc_id": 1180,
"hgvs_c": "c.537-28320C>A",
"hgvs_p": null,
"transcript": "NM_001440302.1",
"protein_id": "NP_001427231.1",
"transcript_support_level": null,
"aa_start": null,
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"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,
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"exon_count": 7,
"intron_rank": 4,
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"gene_symbol": "MPPED2",
"gene_hgnc_id": 1180,
"hgvs_c": "c.537-28320C>A",
"hgvs_p": null,
"transcript": "NM_001145399.3",
"protein_id": "NP_001138871.1",
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},
{
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"consequences": [
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],
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"exon_count": 7,
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"gene_symbol": "MPPED2",
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"hgvs_c": "c.537-28320C>A",
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"transcript": "NM_001377956.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "MPPED2",
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"transcript": "ENST00000524667.5",
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},
{
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"strand": false,
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],
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"gene_symbol": "MPPED2",
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"transcript": "NR_165336.1",
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},
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],
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},
{
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"consequences": [
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],
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"gene_symbol": "MPPED2",
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},
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],
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},
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],
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"gene_symbol": "MPPED2",
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"hgvs_c": "n.1105-28320C>A",
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"transcript": "NR_165340.1",
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},
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "MPPED2",
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"hgvs_c": "n.744-28320C>A",
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],
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],
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},
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],
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"hgvs_c": "n.733-28320C>A",
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"transcript": "NR_165345.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 5,
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"gene_symbol": "MPPED2",
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"hgvs_c": "n.831-28320C>A",
"hgvs_p": null,
"transcript": "NR_165346.1",
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},
{
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"consequences": [
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],
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}
],
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}