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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: 4-100469948-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=100469948&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 100469948,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_016242.4",
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.260-4409A>C",
"hgvs_p": null,
"transcript": "NM_016242.4",
"protein_id": "NP_057326.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296420.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016242.4"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.260-4409A>C",
"hgvs_p": null,
"transcript": "ENST00000296420.9",
"protein_id": "ENSP00000296420.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016242.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296420.9"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.260-4409A>C",
"hgvs_p": null,
"transcript": "ENST00000305864.7",
"protein_id": "ENSP00000304780.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": null,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305864.7"
},
{
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.260-4409A>C",
"hgvs_p": null,
"transcript": "ENST00000956441.1",
"protein_id": "ENSP00000626500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": null,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956441.1"
},
{
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.260-4409A>C",
"hgvs_p": null,
"transcript": "ENST00000956445.1",
"protein_id": "ENSP00000626504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": null,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956445.1"
},
{
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.260-4409A>C",
"hgvs_p": null,
"transcript": "ENST00000956443.1",
"protein_id": "ENSP00000626502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956443.1"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.260-4409A>C",
"hgvs_p": null,
"transcript": "ENST00000897251.1",
"protein_id": "ENSP00000567310.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897251.1"
},
{
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.260-4409A>C",
"hgvs_p": null,
"transcript": "ENST00000897260.1",
"protein_id": "ENSP00000567319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897260.1"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.260-4409A>C",
"hgvs_p": null,
"transcript": "ENST00000897261.1",
"protein_id": "ENSP00000567320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897261.1"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.260-4409A>C",
"hgvs_p": null,
"transcript": "ENST00000956442.1",
"protein_id": "ENSP00000626501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956442.1"
},
{
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.260-4409A>C",
"hgvs_p": null,
"transcript": "NM_001159694.2",
"protein_id": "NP_001153166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001159694.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 3,
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"gene_symbol": "EMCN",
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"hgvs_c": "c.260-4409A>C",
"hgvs_p": null,
"transcript": "ENST00000511970.5",
"protein_id": "ENSP00000422432.1",
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"aa_start": null,
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"aa_length": 248,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000511970.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 3,
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"gene_symbol": "EMCN",
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"hgvs_c": "c.260-4409A>C",
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"transcript": "ENST00000956446.1",
"protein_id": "ENSP00000626505.1",
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"cds_start": null,
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"cdna_start": null,
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"feature": "ENST00000956446.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "EMCN",
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"feature": "ENST00000897252.1"
},
{
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"protein_coding": true,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 3,
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"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.260-4409A>C",
"hgvs_p": null,
"transcript": "ENST00000956449.1",
"protein_id": "ENSP00000626508.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956449.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "EMCN",
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"hgvs_c": "c.188-4409A>C",
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"transcript": "ENST00000897257.1",
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"feature": "ENST00000897257.1"
},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "EMCN",
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"hgvs_c": "c.260-4409A>C",
"hgvs_p": null,
"transcript": "ENST00000897258.1",
"protein_id": "ENSP00000567317.1",
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"biotype": "protein_coding",
"feature": "ENST00000897258.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.260-4409A>C",
"hgvs_p": null,
"transcript": "ENST00000897259.1",
"protein_id": "ENSP00000567318.1",
"transcript_support_level": null,
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"cds_start": null,
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"feature": "ENST00000897259.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "EMCN",
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"hgvs_c": "c.137-4409A>C",
"hgvs_p": null,
"transcript": "ENST00000897255.1",
"protein_id": "ENSP00000567314.1",
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},
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],
"exon_rank": null,
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"intron_rank": 2,
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"transcript": "ENST00000956447.1",
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},
{
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],
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"gene_symbol": "EMCN",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956448.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EMCN",
"gene_hgnc_id": 16041,
"hgvs_c": "c.260-4409A>C",
"hgvs_p": null,
"transcript": "ENST00000897249.1",
"protein_id": "ENSP00000567308.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897249.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EMCN",
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