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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: 10-67923688-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=67923688&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 67923688,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000373700.9",
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2942-549T>C",
"hgvs_p": null,
"transcript": "NM_015601.4",
"protein_id": "NP_056416.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1049,
"cds_start": -4,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": "ENST00000373700.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2942-549T>C",
"hgvs_p": null,
"transcript": "ENST00000373700.9",
"protein_id": "ENSP00000362804.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1049,
"cds_start": -4,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": "NM_015601.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2966-549T>C",
"hgvs_p": null,
"transcript": "ENST00000395198.7",
"protein_id": "ENSP00000378624.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1057,
"cds_start": -4,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2732-549T>C",
"hgvs_p": null,
"transcript": "ENST00000412272.6",
"protein_id": "ENSP00000416504.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 979,
"cds_start": -4,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2636-549T>C",
"hgvs_p": null,
"transcript": "ENST00000277817.10",
"protein_id": "ENSP00000277817.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 947,
"cds_start": -4,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "n.*2336-549T>C",
"hgvs_p": null,
"transcript": "ENST00000473533.6",
"protein_id": "ENSP00000423671.1",
"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": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2966-549T>C",
"hgvs_p": null,
"transcript": "NM_022079.3",
"protein_id": "NP_071362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1057,
"cds_start": -4,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
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"cdna_length": 4448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2732-549T>C",
"hgvs_p": null,
"transcript": "NM_001278185.2",
"protein_id": "NP_001265114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 979,
"cds_start": -4,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2177-549T>C",
"hgvs_p": null,
"transcript": "NM_001278186.2",
"protein_id": "NP_001265115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 794,
"cds_start": -4,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "n.*4538-549T>C",
"hgvs_p": null,
"transcript": "ENST00000427635.6",
"protein_id": "ENSP00000406171.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6391,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3038-549T>C",
"hgvs_p": null,
"transcript": "XM_011539592.4",
"protein_id": "XP_011537894.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "HERC4",
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"hgvs_c": "c.3038-549T>C",
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"transcript": "XM_024447927.2",
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},
{
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"strand": false,
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],
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"gene_symbol": "HERC4",
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"hgvs_c": "c.3038-549T>C",
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"transcript": "XM_024447928.2",
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},
{
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],
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"gene_symbol": "HERC4",
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"hgvs_c": "c.3038-549T>C",
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"transcript": "XM_047424990.1",
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},
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],
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},
{
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],
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"gene_symbol": "HERC4",
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"hgvs_c": "c.2966-549T>C",
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},
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"gene_symbol": "HERC4",
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"hgvs_c": "c.2942-549T>C",
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],
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],
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"gene_symbol": "HERC4",
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"transcript": "XM_047424997.1",
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},
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"consequences": [
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],
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"gene_symbol": "HERC4",
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"hgvs_c": "c.2675-549T>C",
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}
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}