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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: 6-130845317-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=130845317&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 130845317,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000337057.8",
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.*6-4719A>C",
"hgvs_p": null,
"transcript": "NM_001431.4",
"protein_id": "NP_001422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1005,
"cds_start": -4,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4380,
"mane_select": "ENST00000337057.8",
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.*6-4719A>C",
"hgvs_p": null,
"transcript": "ENST00000337057.8",
"protein_id": "ENSP00000338481.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1005,
"cds_start": -4,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4380,
"mane_select": "NM_001431.4",
"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": 16,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.*6-4719A>C",
"hgvs_p": null,
"transcript": "ENST00000528282.5",
"protein_id": "ENSP00000434308.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 747,
"cds_start": -4,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3663,
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.*6-4719A>C",
"hgvs_p": null,
"transcript": "ENST00000392427.7",
"protein_id": "ENSP00000376222.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3369,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.*6-4719A>C",
"hgvs_p": null,
"transcript": "ENST00000524581.5",
"protein_id": "ENSP00000437207.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": -4,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3090,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "n.1743-4719A>C",
"hgvs_p": null,
"transcript": "ENST00000452150.6",
"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": 2994,
"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": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.*6-4719A>C",
"hgvs_p": null,
"transcript": "NM_001350299.2",
"protein_id": "NP_001337228.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1057,
"cds_start": -4,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
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"cdna_length": 4502,
"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": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.*6-4719A>C",
"hgvs_p": null,
"transcript": "ENST00000706365.1",
"protein_id": "ENSP00000516350.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1057,
"cds_start": -4,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4439,
"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.*6-4719A>C",
"hgvs_p": null,
"transcript": "NM_001350301.2",
"protein_id": "NP_001337230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": -4,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4437,
"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,
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"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.*6-4719A>C",
"hgvs_p": null,
"transcript": "NM_001350302.2",
"protein_id": "NP_001337231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1005,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 19,
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"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.*1-4719A>C",
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"transcript": "ENST00000368128.6",
"protein_id": "ENSP00000357110.2",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "EPB41L2",
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"hgvs_c": "c.*6-4719A>C",
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"transcript": "NM_001350303.2",
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},
{
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],
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"exon_count": 18,
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"gene_symbol": "EPB41L2",
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"hgvs_c": "c.*6-4719A>C",
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"transcript": "NM_001350304.2",
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},
{
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],
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"gene_symbol": "EPB41L2",
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"hgvs_c": "c.*6-4719A>C",
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},
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],
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"gene_symbol": "EPB41L2",
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"transcript": "NM_001350306.2",
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},
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "EPB41L2",
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"hgvs_c": "c.*6-4723A>C",
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],
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"gene_symbol": "EPB41L2",
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"transcript": "ENST00000628542.2",
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},
{
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],
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"gene_symbol": "EPB41L2",
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"hgvs_c": "c.*6-4719A>C",
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"transcript": "NM_001350307.2",
"protein_id": "NP_001337236.1",
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},
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],
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"gene_symbol": "EPB41L2",
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"hgvs_c": "c.*6-4719A>C",
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"transcript": "NM_001199388.3",
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},
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],
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"gene_symbol": "EPB41L2",
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},
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"strand": false,
"consequences": [
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],
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"intron_rank": 17,
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"gene_symbol": "EPB41L2",
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"hgvs_c": "c.*6-4719A>C",
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"transcript": "NM_001350310.2",
"protein_id": "NP_001337239.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EPB41L2",
"gene_hgnc_id": 3379,
"hgvs_c": "c.*6-4719A>C",
"hgvs_p": null,
"transcript": "ENST00000530481.5",
"protein_id": "ENSP00000434576.1",
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