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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: 3-197258725-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=197258725&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 197258725,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000667157.1",
"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": 4,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.318+23954G>A",
"hgvs_p": null,
"transcript": "NM_001366207.1",
"protein_id": "NP_001353136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": -4,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4853,
"mane_select": "ENST00000667157.1",
"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": 4,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.318+23954G>A",
"hgvs_p": null,
"transcript": "ENST00000667157.1",
"protein_id": "ENSP00000499414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": -4,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4853,
"mane_select": "NM_001366207.1",
"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": 4,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.318+23954G>A",
"hgvs_p": null,
"transcript": "ENST00000346964.6",
"protein_id": "ENSP00000345731.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": -4,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5034,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.318+23954G>A",
"hgvs_p": null,
"transcript": "ENST00000419354.5",
"protein_id": "ENSP00000407531.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 904,
"cds_start": -4,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3994,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.318+23954G>A",
"hgvs_p": null,
"transcript": "ENST00000448528.6",
"protein_id": "ENSP00000391732.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 904,
"cds_start": -4,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2977,
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.318+23954G>A",
"hgvs_p": null,
"transcript": "ENST00000357674.9",
"protein_id": "ENSP00000350303.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": -4,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4912,
"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": 19,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.318+23954G>A",
"hgvs_p": null,
"transcript": "ENST00000392381.7",
"protein_id": "ENSP00000376186.3",
"transcript_support_level": 1,
"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": 2833,
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "n.445+23954G>A",
"hgvs_p": null,
"transcript": "ENST00000471733.5",
"protein_id": null,
"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": 2605,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.318+23954G>A",
"hgvs_p": null,
"transcript": "NM_004087.2",
"protein_id": "NP_004078.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": -4,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
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"cdna_length": 5034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "DLG1",
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"hgvs_c": "c.318+23954G>A",
"hgvs_p": null,
"transcript": "NM_001366214.1",
"protein_id": "NP_001353143.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 925,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "DLG1",
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"hgvs_c": "c.318+23954G>A",
"hgvs_p": null,
"transcript": "ENST00000660898.1",
"protein_id": "ENSP00000499363.1",
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},
{
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],
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"transcript": "NM_001098424.1",
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},
{
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],
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"gene_symbol": "DLG1",
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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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"gene_symbol": "DLG1",
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"transcript": "NM_001366215.1",
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"transcript": "ENST00000450955.5",
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],
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"gene_symbol": "DLG1",
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"transcript": "NM_001204386.1",
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},
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],
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"gene_symbol": "DLG1",
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"hgvs_c": "c.318+23954G>A",
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