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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: 10-74857721-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=74857721&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 74857721,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000287239.10",
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.621+14243T>C",
"hgvs_p": null,
"transcript": "NM_012330.4",
"protein_id": "NP_036462.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2073,
"cds_start": -4,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": "ENST00000287239.10",
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.621+14243T>C",
"hgvs_p": null,
"transcript": "ENST00000287239.10",
"protein_id": "ENSP00000287239.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2073,
"cds_start": -4,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": "NM_012330.4",
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.621+14243T>C",
"hgvs_p": null,
"transcript": "ENST00000372711.2",
"protein_id": "ENSP00000361796.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1890,
"cds_start": -4,
"cds_end": null,
"cds_length": 5673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7297,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.621+14243T>C",
"hgvs_p": null,
"transcript": "NM_001370136.1",
"protein_id": "NP_001357065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2073,
"cds_start": -4,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8324,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.621+14243T>C",
"hgvs_p": null,
"transcript": "NM_001370137.1",
"protein_id": "NP_001357066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2073,
"cds_start": -4,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8345,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.621+14243T>C",
"hgvs_p": null,
"transcript": "ENST00000648725.1",
"protein_id": "ENSP00000497841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2073,
"cds_start": -4,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
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"cdna_length": 8209,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.621+14243T>C",
"hgvs_p": null,
"transcript": "ENST00000649463.1",
"protein_id": "ENSP00000497166.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7908,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.621+14243T>C",
"hgvs_p": null,
"transcript": "NM_001256468.2",
"protein_id": "NP_001243397.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1890,
"cds_start": -4,
"cds_end": null,
"cds_length": 5673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7765,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KAT6B",
"gene_hgnc_id": 17582,
"hgvs_c": "c.621+14243T>C",
"hgvs_p": null,
"transcript": "NM_001370138.1",
"protein_id": "NP_001357067.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1890,
"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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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
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"gene_symbol": "KAT6B",
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"hgvs_c": "c.621+14243T>C",
"hgvs_p": null,
"transcript": "ENST00000372724.6",
"protein_id": "ENSP00000361809.2",
"transcript_support_level": 5,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"gene_symbol": "KAT6B",
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"hgvs_c": "c.621+14243T>C",
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"transcript": "NM_001256469.2",
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},
{
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],
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},
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],
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"gene_symbol": "KAT6B",
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},
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],
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],
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},
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],
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"gene_symbol": "KAT6B",
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],
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},
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],
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"gene_symbol": "KAT6B",
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},
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],
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"gene_symbol": "KAT6B",
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"transcript": "NM_001370144.1",
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},
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],
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"gene_symbol": "KAT6B",
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