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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: 11-119085172-C-CTTTTTTTTTTTTTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=119085172&ref=C&alt=CTTTTTTTTTTTTTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 119085172,
"ref": "C",
"alt": "CTTTTTTTTTTTTTT",
"effect": "intron_variant",
"transcript": "ENST00000652429.1",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.33+122_33+135dupTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_000190.4",
"protein_id": "NP_000181.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": -4,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": "ENST00000652429.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.33+106_33+107insTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000652429.1",
"protein_id": "ENSP00000498786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": -4,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": "NM_000190.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "n.33+106_33+107insTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000545621.5",
"protein_id": "ENSP00000444849.1",
"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": 1282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "n.186+106_186+107insTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000545901.5",
"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": 581,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.33+122_33+135dupTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001425056.1",
"protein_id": "NP_001411985.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": -4,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.33+122_33+135dupTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001425057.1",
"protein_id": "NP_001411986.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": -4,
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"cds_length": 1068,
"cdna_start": null,
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"cdna_length": 1486,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.33+106_33+107insTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000442944.7",
"protein_id": "ENSP00000392041.3",
"transcript_support_level": 5,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.33+122_33+135dupTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001425058.1",
"protein_id": "NP_001411987.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": -4,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
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"cdna_length": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
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"gene_symbol": "HMBS",
"gene_hgnc_id": 4982,
"hgvs_c": "c.-19+31_-19+44dupTTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001425052.1",
"protein_id": "NP_001411981.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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],
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},
{
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],
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],
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],
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],
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