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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: 6-147294574-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=147294574&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 147294574,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001127715.4",
"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": 28,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.917+3402G>C",
"hgvs_p": null,
"transcript": "NM_001127715.4",
"protein_id": "NP_001121187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1151,
"cds_start": null,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321680.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127715.4"
},
{
"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": 28,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.917+3402G>C",
"hgvs_p": null,
"transcript": "ENST00000321680.11",
"protein_id": "ENSP00000321826.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1151,
"cds_start": null,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001127715.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321680.11"
},
{
"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": 26,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.917+3402G>C",
"hgvs_p": null,
"transcript": "ENST00000367481.7",
"protein_id": "ENSP00000356451.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1115,
"cds_start": null,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367481.7"
},
{
"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": 27,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.917+3402G>C",
"hgvs_p": null,
"transcript": "ENST00000964473.1",
"protein_id": "ENSP00000634532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1136,
"cds_start": null,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964473.1"
},
{
"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": 27,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.917+3402G>C",
"hgvs_p": null,
"transcript": "NM_001394409.1",
"protein_id": "NP_001381338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1135,
"cds_start": null,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394409.1"
},
{
"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": 27,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.917+3402G>C",
"hgvs_p": null,
"transcript": "ENST00000927180.1",
"protein_id": "ENSP00000597239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1135,
"cds_start": null,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927180.1"
},
{
"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": 26,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.917+3402G>C",
"hgvs_p": null,
"transcript": "ENST00000927181.1",
"protein_id": "ENSP00000597240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1123,
"cds_start": null,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927181.1"
},
{
"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": 26,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.917+3402G>C",
"hgvs_p": null,
"transcript": "NM_139244.6",
"protein_id": "NP_640337.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1115,
"cds_start": null,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139244.6"
},
{
"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": 25,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.917+3402G>C",
"hgvs_p": null,
"transcript": "ENST00000367480.7",
"protein_id": "ENSP00000356450.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1098,
"cds_start": null,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367480.7"
},
{
"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": 29,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.917+3402G>C",
"hgvs_p": null,
"transcript": "XM_047418197.1",
"protein_id": "XP_047274153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1179,
"cds_start": null,
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"cds_length": 3540,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418197.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.917+3402G>C",
"hgvs_p": null,
"transcript": "XM_047418198.1",
"protein_id": "XP_047274154.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1163,
"cds_start": null,
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"cdna_start": null,
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"feature": "XM_047418198.1"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "STXBP5",
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"hgvs_c": "c.917+3402G>C",
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"transcript": "XM_047418199.1",
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "STXBP5",
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"hgvs_c": "c.305+3402G>C",
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"transcript": "XM_047418200.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "STXBP5",
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},
{
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"intron_variant"
],
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"exon_count": 23,
"intron_rank": 9,
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"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.917+3402G>C",
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"transcript": "XM_047418203.1",
"protein_id": "XP_047274159.1",
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},
{
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],
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"gene_symbol": "STXBP5",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.917+3402G>C",
"hgvs_p": null,
"transcript": "XM_017010268.3",
"protein_id": "XP_016865757.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 9,
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"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "c.917+3402G>C",
"hgvs_p": null,
"transcript": "XM_047418205.1",
"protein_id": "XP_047274161.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "n.917+3402G>C",
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"transcript": "ENST00000367475.7",
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"feature": "ENST00000367475.7"
},
{
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"protein_coding": false,
"strand": true,
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],
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"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
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"biotype": "retained_intron",
"feature": "ENST00000706848.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "n.917+3402G>C",
"hgvs_p": null,
"transcript": "ENST00000706849.1",
"protein_id": "ENSP00000516590.1",
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706849.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "STXBP5",
"gene_hgnc_id": 19665,
"hgvs_c": "n.917+3402G>C",
"hgvs_p": null,
"transcript": "ENST00000706850.1",
"protein_id": "ENSP00000516591.1",
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"aa_start": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706850.1"
},
{
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"canonical": false,
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{
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}
],
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}