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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: 1-227748061-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=227748061&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 227748061,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000617596.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "NM_053052.4",
"protein_id": "NP_444280.3",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 419,
"cds_start": 325,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": "ENST00000617596.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "ENST00000617596.5",
"protein_id": "ENSP00000483253.1",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 419,
"cds_start": 325,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": "NM_053052.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "ENST00000366759.9",
"protein_id": "ENSP00000355721.5",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 419,
"cds_start": 325,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "ENST00000315781.10",
"protein_id": "ENSP00000314157.7",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 406,
"cds_start": 325,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.-94-10934G>A",
"hgvs_p": null,
"transcript": "ENST00000418653.6",
"protein_id": "ENSP00000402730.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": -4,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "ENST00000681242.1",
"protein_id": "ENSP00000506515.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 523,
"cds_start": 325,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 4086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Val154Met",
"transcript": "NM_001323935.1",
"protein_id": "NP_001310864.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 446,
"cds_start": 460,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "NM_001323930.2",
"protein_id": "NP_001310859.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 419,
"cds_start": 325,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "NM_001323931.2",
"protein_id": "NP_001310860.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 419,
"cds_start": 325,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "NM_001323932.2",
"protein_id": "NP_001310861.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 419,
"cds_start": 325,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "NM_001323933.2",
"protein_id": "NP_001310862.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 419,
"cds_start": 325,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 2235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "NM_001323934.2",
"protein_id": "NP_001310863.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 419,
"cds_start": 325,
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"cds_length": 1260,
"cdna_start": 406,
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"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "ENST00000679575.1",
"protein_id": "ENSP00000505941.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 419,
"cds_start": 325,
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"cdna_start": 1851,
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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": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "ENST00000680202.1",
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},
{
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],
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "SNAP47",
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"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "ENST00000680854.1",
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"cdna_start": 685,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "SNAP47",
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"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "ENST00000680992.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "SNAP47",
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"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "ENST00000681149.1",
"protein_id": "ENSP00000505139.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "ENST00000681447.1",
"protein_id": "ENSP00000505540.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
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],
"exon_rank": 4,
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"exon_count": 7,
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"gene_symbol": "SNAP47",
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"hgvs_c": "c.325G>A",
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"transcript": "ENST00000681827.1",
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},
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],
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"gene_symbol": "SNAP47",
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"hgvs_c": "c.325G>A",
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"transcript": "ENST00000681006.1",
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "SNAP47",
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "ENST00000478768.3",
"protein_id": "ENSP00000485027.2",
"transcript_support_level": 3,
"aa_start": 109,
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"aa_length": 395,
"cds_start": 325,
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"cds_length": 1188,
"cdna_start": 435,
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"cdna_length": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP47",
"gene_hgnc_id": 30669,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "ENST00000681685.1",
"protein_id": "ENSP00000505812.1",
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