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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: 10-53875264-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=53875264&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 53875264,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000644397.2",
"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": 33,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3502-8407C>T",
"hgvs_p": null,
"transcript": "NM_033056.4",
"protein_id": "NP_149045.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1955,
"cds_start": -4,
"cds_end": null,
"cds_length": 5868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6962,
"mane_select": null,
"mane_plus": "ENST00000320301.11",
"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": 33,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3502-8407C>T",
"hgvs_p": null,
"transcript": "ENST00000320301.11",
"protein_id": "ENSP00000322604.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1955,
"cds_start": -4,
"cds_end": null,
"cds_length": 5868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6962,
"mane_select": null,
"mane_plus": "NM_033056.4",
"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": 38,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3502-8407C>T",
"hgvs_p": null,
"transcript": "NM_001384140.1",
"protein_id": "NP_001371069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1740,
"cds_start": -4,
"cds_end": null,
"cds_length": 5223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9366,
"mane_select": "ENST00000644397.2",
"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": 38,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3502-8407C>T",
"hgvs_p": null,
"transcript": "ENST00000644397.2",
"protein_id": "ENSP00000495195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1740,
"cds_start": -4,
"cds_end": null,
"cds_length": 5223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9366,
"mane_select": "NM_001384140.1",
"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": 35,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3523-8407C>T",
"hgvs_p": null,
"transcript": "ENST00000395445.6",
"protein_id": "ENSP00000378832.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1783,
"cds_start": -4,
"cds_end": null,
"cds_length": 5352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6309,
"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": 34,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3502-8407C>T",
"hgvs_p": null,
"transcript": "ENST00000616114.4",
"protein_id": "ENSP00000483745.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1675,
"cds_start": -4,
"cds_end": null,
"cds_length": 5028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5846,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "n.521-8407C>T",
"hgvs_p": null,
"transcript": "ENST00000463095.2",
"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": 3469,
"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": 35,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3517-8407C>T",
"hgvs_p": null,
"transcript": "NM_001142763.2",
"protein_id": "NP_001136235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1962,
"cds_start": -4,
"cds_end": null,
"cds_length": 5889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6983,
"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": 35,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3517-8407C>T",
"hgvs_p": null,
"transcript": "ENST00000373957.7",
"protein_id": "ENSP00000363068.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1962,
"cds_start": -4,
"cds_end": null,
"cds_length": 5889,
"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": 34,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3502-8407C>T",
"hgvs_p": null,
"transcript": "NM_001142764.2",
"protein_id": "NP_001136236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1957,
"cds_start": -4,
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"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": 34,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3502-8407C>T",
"hgvs_p": null,
"transcript": "ENST00000361849.7",
"protein_id": "ENSP00000354950.3",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 26,
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"gene_symbol": "PCDH15",
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"hgvs_c": "c.3502-8407C>T",
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"transcript": "NM_001142766.2",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 32,
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"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3502-8407C>T",
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"transcript": "ENST00000395430.5",
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},
{
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],
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"gene_symbol": "PCDH15",
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"hgvs_c": "c.3436-8407C>T",
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},
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],
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"gene_symbol": "PCDH15",
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"hgvs_c": "c.3436-8407C>T",
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"transcript": "NM_001354404.2",
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},
{
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],
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"gene_symbol": "PCDH15",
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"hgvs_c": "c.3436-8407C>T",
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],
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"gene_symbol": "PCDH15",
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"hgvs_c": "c.3436-8407C>T",
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"transcript": "ENST00000395433.5",
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},
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],
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"intron_rank": 25,
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"gene_symbol": "PCDH15",
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"hgvs_c": "c.3391-8407C>T",
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"transcript": "NM_001142767.2",
"protein_id": "NP_001136239.1",
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},
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"strand": false,
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],
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"gene_symbol": "PCDH15",
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"hgvs_c": "c.3289-8407C>T",
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],
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"hgvs_c": "c.3289-8407C>T",
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},
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],
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"gene_symbol": "PCDH15",
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},
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 28,
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"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3538-8407C>T",
"hgvs_p": null,
"transcript": "ENST00000613657.6",
"protein_id": "ENSP00000482794.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 35,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3523-8407C>T",
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"transcript": "NM_001354411.2",
"protein_id": "NP_001341340.1",
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