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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: 2-208349547-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=208349547&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 208349547,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_015040.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.5375-477T>G",
"hgvs_p": null,
"transcript": "NM_015040.4",
"protein_id": "NP_055855.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2098,
"cds_start": null,
"cds_end": null,
"cds_length": 6297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264380.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015040.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.5375-477T>G",
"hgvs_p": null,
"transcript": "ENST00000264380.9",
"protein_id": "ENSP00000264380.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2098,
"cds_start": null,
"cds_end": null,
"cds_length": 6297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015040.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264380.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.5390-477T>G",
"hgvs_p": null,
"transcript": "ENST00000909798.1",
"protein_id": "ENSP00000579857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2103,
"cds_start": null,
"cds_end": null,
"cds_length": 6312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909798.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.5357-477T>G",
"hgvs_p": null,
"transcript": "ENST00000923116.1",
"protein_id": "ENSP00000593175.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2092,
"cds_start": null,
"cds_end": null,
"cds_length": 6279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923116.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.5189-477T>G",
"hgvs_p": null,
"transcript": "ENST00000923111.1",
"protein_id": "ENSP00000593170.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2036,
"cds_start": null,
"cds_end": null,
"cds_length": 6111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923111.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.5084-477T>G",
"hgvs_p": null,
"transcript": "ENST00000923110.1",
"protein_id": "ENSP00000593169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2001,
"cds_start": null,
"cds_end": null,
"cds_length": 6006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923110.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.5084-477T>G",
"hgvs_p": null,
"transcript": "ENST00000923112.1",
"protein_id": "ENSP00000593171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2001,
"cds_start": null,
"cds_end": null,
"cds_length": 6006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923112.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.5078-477T>G",
"hgvs_p": null,
"transcript": "ENST00000923117.1",
"protein_id": "ENSP00000593176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1999,
"cds_start": null,
"cds_end": null,
"cds_length": 6000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923117.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.5066-477T>G",
"hgvs_p": null,
"transcript": "ENST00000923113.1",
"protein_id": "ENSP00000593172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1995,
"cds_start": null,
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"cds_length": 5988,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923113.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.4934-477T>G",
"hgvs_p": null,
"transcript": "ENST00000960156.1",
"protein_id": "ENSP00000630215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1951,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000960156.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 40,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
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"hgvs_c": "c.4934-477T>G",
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"transcript": "ENST00000960157.1",
"protein_id": "ENSP00000630216.1",
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"cds_start": null,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 39,
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"gene_symbol": "PIKFYVE",
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"transcript": "ENST00000923115.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 38,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
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},
{
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],
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"gene_symbol": "PIKFYVE",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 43,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.5411-477T>G",
"hgvs_p": null,
"transcript": "XM_011510778.4",
"protein_id": "XP_011509080.1",
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},
{
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"strand": true,
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],
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"intron_rank": 36,
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"gene_symbol": "PIKFYVE",
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"hgvs_c": "c.5411-477T>G",
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},
{
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],
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"intron_rank": 36,
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"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.5408-477T>G",
"hgvs_p": null,
"transcript": "XM_011510780.3",
"protein_id": "XP_011509082.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 43,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.5393-477T>G",
"hgvs_p": null,
"transcript": "XM_011510781.4",
"protein_id": "XP_011509083.1",
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},
{
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],
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"gene_symbol": "PIKFYVE",
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},
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],
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"gene_symbol": "PIKFYVE",
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},
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],
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"gene_symbol": "PIKFYVE",
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"feature": "XM_011510782.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 42,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.5243-477T>G",
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"transcript": "XM_011510783.4",
"protein_id": "XP_011509085.1",
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"feature": "XM_011510783.4"
},
{
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"strand": true,
"consequences": [
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],
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}
],
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}