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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: 18-11892846-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=11892846&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 11892846,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000588072.6",
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MPPE1",
"gene_hgnc_id": 15988,
"hgvs_c": "c.390+622T>C",
"hgvs_p": null,
"transcript": "NM_023075.6",
"protein_id": "NP_075563.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": -4,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": "ENST00000588072.6",
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MPPE1",
"gene_hgnc_id": 15988,
"hgvs_c": "c.390+622T>C",
"hgvs_p": null,
"transcript": "ENST00000588072.6",
"protein_id": "ENSP00000465894.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": -4,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": "NM_023075.6",
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MPPE1",
"gene_hgnc_id": 15988,
"hgvs_c": "c.390+622T>C",
"hgvs_p": null,
"transcript": "ENST00000309976.13",
"protein_id": "ENSP00000311200.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": -4,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1636,
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MPPE1",
"gene_hgnc_id": 15988,
"hgvs_c": "c.390+622T>C",
"hgvs_p": null,
"transcript": "ENST00000317235.11",
"protein_id": "ENSP00000327257.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": -4,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2324,
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MPPE1",
"gene_hgnc_id": 15988,
"hgvs_c": "n.99+622T>C",
"hgvs_p": null,
"transcript": "ENST00000317251.8",
"protein_id": "ENSP00000312935.4",
"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": 1910,
"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": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MPPE1",
"gene_hgnc_id": 15988,
"hgvs_c": "n.390+622T>C",
"hgvs_p": null,
"transcript": "ENST00000496196.5",
"protein_id": "ENSP00000433950.1",
"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": 2427,
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MPPE1",
"gene_hgnc_id": 15988,
"hgvs_c": "n.704+622T>C",
"hgvs_p": null,
"transcript": "ENST00000589731.5",
"protein_id": null,
"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": 1568,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MPPE1",
"gene_hgnc_id": 15988,
"hgvs_c": "n.403+622T>C",
"hgvs_p": null,
"transcript": "ENST00000592447.5",
"protein_id": null,
"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": 2530,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "MPPE1",
"gene_hgnc_id": 15988,
"hgvs_c": "c.390+622T>C",
"hgvs_p": null,
"transcript": "NM_001330563.2",
"protein_id": "NP_001317492.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MPPE1",
"gene_hgnc_id": 15988,
"hgvs_c": "c.390+622T>C",
"hgvs_p": null,
"transcript": "ENST00000344987.11",
"protein_id": "ENSP00000339423.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
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"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MPPE1",
"gene_hgnc_id": 15988,
"hgvs_c": "c.390+622T>C",
"hgvs_p": null,
"transcript": "NM_001242904.2",
"protein_id": "NP_001229833.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
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"exon_count": 9,
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"gene_symbol": "MPPE1",
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"hgvs_c": "c.390+622T>C",
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"transcript": "NM_001319154.2",
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},
{
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"strand": false,
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],
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"exon_count": 9,
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"gene_symbol": "MPPE1",
"gene_hgnc_id": 15988,
"hgvs_c": "c.390+622T>C",
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"transcript": "ENST00000592977.5",
"protein_id": "ENSP00000468606.1",
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},
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],
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"hgvs_c": "c.390+622T>C",
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},
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],
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"transcript": "ENST00000592331.5",
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},
{
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],
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"gene_symbol": "MPPE1",
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"hgvs_c": "c.390+622T>C",
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"transcript": "ENST00000588191.5",
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},
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],
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},
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],
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"gene_symbol": "MPPE1",
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"hgvs_c": "n.286+622T>C",
"hgvs_p": null,
"transcript": "ENST00000586364.1",
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},
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "MPPE1",
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"hgvs_c": "n.289+622T>C",
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"transcript": "ENST00000592894.5",
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],
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},
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],
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},
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],
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MPPE1",
"gene_hgnc_id": 15988,
"hgvs_c": "c.390+622T>C",
"hgvs_p": null,
"transcript": "XM_006722340.4",
"protein_id": "XP_006722403.1",
"transcript_support_level": null,
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},
{
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"consequences": [
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],
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}
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}