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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: 9-14854074-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=14854074&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 14854074,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000380880.4",
"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": 37,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.829-2467G>A",
"hgvs_p": null,
"transcript": "NM_001379081.2",
"protein_id": "NP_001366010.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2179,
"cds_start": -4,
"cds_end": null,
"cds_length": 6540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7566,
"mane_select": "ENST00000380880.4",
"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": 37,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.829-2467G>A",
"hgvs_p": null,
"transcript": "ENST00000380880.4",
"protein_id": "ENSP00000370262.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2179,
"cds_start": -4,
"cds_end": null,
"cds_length": 6540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7566,
"mane_select": "NM_001379081.2",
"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": 31,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "n.829-2467G>A",
"hgvs_p": null,
"transcript": "ENST00000380875.7",
"protein_id": "ENSP00000370257.3",
"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": 6126,
"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": 38,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.829-2467G>A",
"hgvs_p": null,
"transcript": "NM_144966.7",
"protein_id": "NP_659403.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2179,
"cds_start": -4,
"cds_end": null,
"cds_length": 6540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7600,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.856-2467G>A",
"hgvs_p": null,
"transcript": "NM_001370060.1",
"protein_id": "NP_001356989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 430,
"cds_start": -4,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2873,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.829-2467G>A",
"hgvs_p": null,
"transcript": "NM_001370063.1",
"protein_id": "NP_001356992.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": -4,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
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"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.829-2467G>A",
"hgvs_p": null,
"transcript": "NM_001370065.1",
"protein_id": "NP_001356994.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 421,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2638,
"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": 31,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "n.1645-2467G>A",
"hgvs_p": null,
"transcript": "NR_163238.2",
"protein_id": null,
"transcript_support_level": null,
"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": 6174,
"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": 38,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "n.1403-2467G>A",
"hgvs_p": null,
"transcript": "NR_163239.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 7592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "FREM1",
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"hgvs_c": "n.1640-2471G>A",
"hgvs_p": null,
"transcript": "NR_163240.1",
"protein_id": null,
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 5,
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"gene_symbol": "FREM1",
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"hgvs_c": "n.1640-2467G>A",
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"transcript": "NR_163241.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "FREM1",
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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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"protein_id": "XP_016869813.1",
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},
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],
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"intron_rank": 5,
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