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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: 15-72366982-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72366982&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 72366982,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001318825.2",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.253+8738A>G",
"hgvs_p": null,
"transcript": "NM_000520.6",
"protein_id": "NP_000511.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": null,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000268097.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000520.6"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.253+8738A>G",
"hgvs_p": null,
"transcript": "ENST00000268097.10",
"protein_id": "ENSP00000268097.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": null,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000520.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268097.10"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.253+8738A>G",
"hgvs_p": null,
"transcript": "ENST00000567159.5",
"protein_id": "ENSP00000456489.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": null,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567159.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260729",
"gene_hgnc_id": null,
"hgvs_c": "n.253+8738A>G",
"hgvs_p": null,
"transcript": "ENST00000379915.4",
"protein_id": "ENSP00000478716.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000379915.4"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.253+8738A>G",
"hgvs_p": null,
"transcript": "ENST00000861848.1",
"protein_id": "ENSP00000531907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 546,
"cds_start": null,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861848.1"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.253+8738A>G",
"hgvs_p": null,
"transcript": "NM_001318825.2",
"protein_id": "NP_001305754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": null,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318825.2"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.253+8738A>G",
"hgvs_p": null,
"transcript": "ENST00000566304.5",
"protein_id": "ENSP00000455114.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": null,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566304.5"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.253+8738A>G",
"hgvs_p": null,
"transcript": "ENST00000966316.1",
"protein_id": "ENSP00000636375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 535,
"cds_start": null,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966316.1"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.253+8738A>G",
"hgvs_p": null,
"transcript": "ENST00000861842.1",
"protein_id": "ENSP00000531901.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": null,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861842.1"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.253+8738A>G",
"hgvs_p": null,
"transcript": "ENST00000861845.1",
"protein_id": "ENSP00000531904.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": null,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861845.1"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.253+8738A>G",
"hgvs_p": null,
"transcript": "ENST00000966317.1",
"protein_id": "ENSP00000636376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": null,
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"cds_length": 1545,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966317.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
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"gene_symbol": "HEXA",
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"hgvs_c": "c.253+8738A>G",
"hgvs_p": null,
"transcript": "ENST00000966315.1",
"protein_id": "ENSP00000636374.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"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": "ENST00000966315.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.253+8738A>G",
"hgvs_p": null,
"transcript": "ENST00000861843.1",
"protein_id": "ENSP00000531902.1",
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"aa_start": null,
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"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": "ENST00000861843.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "HEXA",
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"hgvs_c": "c.253+8738A>G",
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"transcript": "ENST00000861846.1",
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"feature": "ENST00000861846.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.253+8738A>G",
"hgvs_p": null,
"transcript": "ENST00000966314.1",
"protein_id": "ENSP00000636373.1",
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"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000966314.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "HEXA",
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"hgvs_c": "c.253+8738A>G",
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"transcript": "ENST00000861840.1",
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"biotype": "protein_coding",
"feature": "ENST00000861840.1"
},
{
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"canonical": false,
"protein_coding": true,
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.253+8738A>G",
"hgvs_p": null,
"transcript": "ENST00000684520.1",
"protein_id": "ENSP00000506826.1",
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"biotype": "protein_coding",
"feature": "ENST00000684520.1"
},
{
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"protein_coding": true,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.253+8738A>G",
"hgvs_p": null,
"transcript": "ENST00000966318.1",
"protein_id": "ENSP00000636377.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"feature": "ENST00000966318.1"
},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "HEXA",
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"hgvs_c": "c.253+8738A>G",
"hgvs_p": null,
"transcript": "ENST00000861841.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "HEXA",
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"hgvs_c": "c.253+8738A>G",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "HEXA",
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"hgvs_c": "c.253+8738A>G",
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"transcript": "ENST00000912240.1",
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"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912240.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HEXA",
"gene_hgnc_id": 4878,
"hgvs_c": "c.253+8738A>G",
"hgvs_p": null,
"transcript": "ENST00000861847.1",
"protein_id": "ENSP00000531906.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 223,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861847.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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}