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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: 6-131199854-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=131199854&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 131199854,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000431975.7",
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.702+281C>A",
"hgvs_p": null,
"transcript": "NM_016377.4",
"protein_id": "NP_057461.2",
"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,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": "ENST00000431975.7",
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.702+281C>A",
"hgvs_p": null,
"transcript": "ENST00000431975.7",
"protein_id": "ENSP00000405252.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": -4,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": "NM_016377.4",
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.702+281C>A",
"hgvs_p": null,
"transcript": "NM_001376570.1",
"protein_id": "NP_001363499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": -4,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2281,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.702+281C>A",
"hgvs_p": null,
"transcript": "ENST00000683794.1",
"protein_id": "ENSP00000506952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": -4,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2281,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.699+281C>A",
"hgvs_p": null,
"transcript": "ENST00000541650.5",
"protein_id": "ENSP00000441048.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": -4,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2008,
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.636+281C>A",
"hgvs_p": null,
"transcript": "NM_001387863.1",
"protein_id": "NP_001374792.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": -4,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2359,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.570+281C>A",
"hgvs_p": null,
"transcript": "NM_001387860.1",
"protein_id": "NP_001374789.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3018,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.702+281C>A",
"hgvs_p": null,
"transcript": "NM_001387861.1",
"protein_id": "NP_001374790.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1495,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.702+281C>A",
"hgvs_p": null,
"transcript": "NM_001387862.1",
"protein_id": "NP_001374791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": -4,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1701,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "n.447+281C>A",
"hgvs_p": null,
"transcript": "ENST00000535150.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "n.323-19807C>A",
"hgvs_p": null,
"transcript": "ENST00000543815.5",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "AKAP7",
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"transcript": "NR_164832.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "AKAP7",
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"transcript": "NR_164833.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "AKAP7",
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"transcript": "NR_164834.1",
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},
{
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],
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 9,
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"gene_symbol": "AKAP7",
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"hgvs_c": "n.1492+281C>A",
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},
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],
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},
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],
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"gene_symbol": "AKAP7",
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"hgvs_c": "c.972+281C>A",
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"transcript": "XM_047419568.1",
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "AKAP7",
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"hgvs_c": "c.972+281C>A",
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"transcript": "XM_024446589.2",
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],
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},
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],
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},
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],
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"hgvs_c": "c.972+281C>A",
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"transcript": "XM_047419570.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AKAP7",
"gene_hgnc_id": 377,
"hgvs_c": "c.732+281C>A",
"hgvs_p": null,
"transcript": "XM_047419571.1",
"protein_id": "XP_047275527.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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}
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}