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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: 4-40954557-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=40954557&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 40954557,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000508593.6",
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.836-9484G>A",
"hgvs_p": null,
"transcript": "NM_004307.2",
"protein_id": "NP_004298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 759,
"cds_start": -4,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8899,
"mane_select": "ENST00000508593.6",
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.836-9484G>A",
"hgvs_p": null,
"transcript": "ENST00000508593.6",
"protein_id": "ENSP00000427211.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 759,
"cds_start": -4,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8899,
"mane_select": "NM_004307.2",
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.836-9487G>A",
"hgvs_p": null,
"transcript": "ENST00000513140.5",
"protein_id": "ENSP00000426018.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4166,
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.836-9487G>A",
"hgvs_p": null,
"transcript": "NM_001166050.2",
"protein_id": "NP_001159522.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": -4,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8896,
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.836-9487G>A",
"hgvs_p": null,
"transcript": "ENST00000295974.12",
"protein_id": "ENSP00000295974.8",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": -4,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8972,
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.836-9487G>A",
"hgvs_p": null,
"transcript": "NM_001330656.2",
"protein_id": "NP_001317585.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": -4,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8833,
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.836-9487G>A",
"hgvs_p": null,
"transcript": "NM_001330658.2",
"protein_id": "NP_001317587.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 737,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 8735,
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.836-9487G>A",
"hgvs_p": null,
"transcript": "ENST00000506352.5",
"protein_id": "ENSP00000421539.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": -4,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3316,
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.836-9487G>A",
"hgvs_p": null,
"transcript": "NM_173075.5",
"protein_id": "NP_775098.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
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"cds_length": 2211,
"cdna_start": null,
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"cdna_length": 8830,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.803-9484G>A",
"hgvs_p": null,
"transcript": "ENST00000513611.5",
"protein_id": "ENSP00000427307.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 727,
"cds_start": -4,
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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": 6,
"intron_rank": 1,
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"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "n.804-9487G>A",
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"transcript": "ENST00000509475.5",
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},
{
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"consequences": [
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],
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},
{
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],
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"gene_symbol": "APBB2",
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},
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],
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"gene_symbol": "APBB2",
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],
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},
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],
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},
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"gene_symbol": "APBB2",
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"hgvs_c": "c.836-9484G>A",
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"transcript": "XM_047450163.1",
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],
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],
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},
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],
"exon_rank": null,
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"gene_symbol": "APBB2",
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"hgvs_c": "c.836-9487G>A",
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}