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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: 5-140369443-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=140369443&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 140369443,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000506757.7",
"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": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2427+784G>A",
"hgvs_p": null,
"transcript": "NM_031467.3",
"protein_id": "NP_113655.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 959,
"cds_start": -4,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": "ENST00000506757.7",
"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": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2427+784G>A",
"hgvs_p": null,
"transcript": "ENST00000506757.7",
"protein_id": "ENSP00000424424.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 959,
"cds_start": -4,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": "NM_031467.3",
"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": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2499+784G>A",
"hgvs_p": null,
"transcript": "ENST00000507527.1",
"protein_id": "ENSP00000427661.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 983,
"cds_start": -4,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3258,
"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": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2385+784G>A",
"hgvs_p": null,
"transcript": "ENST00000432095.6",
"protein_id": "ENSP00000410056.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 945,
"cds_start": -4,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3086,
"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": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2238+784G>A",
"hgvs_p": null,
"transcript": "ENST00000506545.5",
"protein_id": "ENSP00000422855.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 896,
"cds_start": -4,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2838,
"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": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2499+784G>A",
"hgvs_p": null,
"transcript": "NM_001258428.2",
"protein_id": "NP_001245357.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 983,
"cds_start": -4,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3412,
"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": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2385+784G>A",
"hgvs_p": null,
"transcript": "NM_001258426.2",
"protein_id": "NP_001245355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 945,
"cds_start": -4,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3241,
"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": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2238+784G>A",
"hgvs_p": null,
"transcript": "NM_001258427.2",
"protein_id": "NP_001245356.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 896,
"cds_start": -4,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3151,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKHD1-DT",
"gene_hgnc_id": 55564,
"hgvs_c": "n.346-3841C>T",
"hgvs_p": null,
"transcript": "ENST00000786865.1",
"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": 511,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKHD1-DT",
"gene_hgnc_id": 55564,
"hgvs_c": "n.337-637C>T",
"hgvs_p": null,
"transcript": "ENST00000786866.1",
"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": 549,
"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": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2499+784G>A",
"hgvs_p": null,
"transcript": "XM_017009933.2",
"protein_id": "XP_016865422.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1006,
"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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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2490+784G>A",
"hgvs_p": null,
"transcript": "XM_017009934.2",
"protein_id": "XP_016865423.2",
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"aa_start": null,
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"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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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2466+784G>A",
"hgvs_p": null,
"transcript": "XM_017009935.2",
"protein_id": "XP_016865424.2",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 17,
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"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2499+784G>A",
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"transcript": "XM_047417794.1",
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},
{
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"strand": true,
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],
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"intron_rank": 17,
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"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2499+784G>A",
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"transcript": "XM_047417795.1",
"protein_id": "XP_047273751.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 17,
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"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2427+784G>A",
"hgvs_p": null,
"transcript": "XM_017009936.2",
"protein_id": "XP_016865425.2",
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},
{
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],
"exon_rank": null,
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"intron_rank": 16,
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"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2385+784G>A",
"hgvs_p": null,
"transcript": "XM_017009937.2",
"protein_id": "XP_016865426.2",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 17,
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"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2427+784G>A",
"hgvs_p": null,
"transcript": "XM_005268521.4",
"protein_id": "XP_005268578.3",
"transcript_support_level": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 17,
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"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2334+784G>A",
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"transcript": "XM_017009938.2",
"protein_id": "XP_016865427.2",
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},
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],
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"gene_symbol": "SLC4A9",
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"hgvs_c": "c.2385+784G>A",
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},
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],
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"gene_symbol": "SLC4A9",
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"hgvs_c": "c.2310+784G>A",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2301+784G>A",
"hgvs_p": null,
"transcript": "XM_017009941.2",
"protein_id": "XP_016865430.2",
"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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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SLC4A9",
"gene_hgnc_id": 11035,
"hgvs_c": "c.2190+784G>A",
"hgvs_p": null,
"transcript": "XM_017009942.2",
"protein_id": "XP_016865431.2",
"transcript_support_level": null,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
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{
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],
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}
],
"message": null
}