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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: 4-94575680-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=94575680&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 94575680,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006457.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "NM_006457.5",
"protein_id": "NP_006448.5",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 596,
"cds_start": 356,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317968.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006457.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000317968.9",
"protein_id": "ENSP00000321746.4",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 596,
"cds_start": 356,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006457.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317968.9"
},
{
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.292-263C>T",
"hgvs_p": null,
"transcript": "ENST00000615540.4",
"protein_id": "ENSP00000480359.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": null,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615540.4"
},
{
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.292-263C>T",
"hgvs_p": null,
"transcript": "ENST00000542407.5",
"protein_id": "ENSP00000442187.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": null,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542407.5"
},
{
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.292-263C>T",
"hgvs_p": null,
"transcript": "ENST00000380180.7",
"protein_id": "ENSP00000369527.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380180.7"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.291+2287C>T",
"hgvs_p": null,
"transcript": "ENST00000318007.9",
"protein_id": "ENSP00000322021.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 214,
"cds_start": null,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318007.9"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000863584.1",
"protein_id": "ENSP00000533643.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 596,
"cds_start": 356,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863584.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000863586.1",
"protein_id": "ENSP00000533645.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 596,
"cds_start": 356,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863586.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000863587.1",
"protein_id": "ENSP00000533646.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 596,
"cds_start": 356,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863587.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"transcript": "ENST00000863588.1",
"protein_id": "ENSP00000533647.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 596,
"cds_start": 356,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863588.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Ser91Phe",
"transcript": "ENST00000510099.5",
"protein_id": "ENSP00000486834.1",
"transcript_support_level": 4,
"aa_start": 91,
"aa_end": null,
"aa_length": 175,
"cds_start": 272,
"cds_end": null,
"cds_length": 530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510099.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.-11C>T",
"hgvs_p": null,
"transcript": "NM_001256428.2",
"protein_id": "NP_001243357.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": null,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256428.2"
},
{
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.292-263C>T",
"hgvs_p": null,
"transcript": "NM_001256426.2",
"protein_id": "NP_001243355.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": null,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256426.2"
},
{
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.292-263C>T",
"hgvs_p": null,
"transcript": "ENST00000514743.5",
"protein_id": "ENSP00000424360.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": null,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514743.5"
},
{
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.292-263C>T",
"hgvs_p": null,
"transcript": "ENST00000968730.1",
"protein_id": "ENSP00000638789.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": null,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968730.1"
},
{
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.292-263C>T",
"hgvs_p": null,
"transcript": "ENST00000968732.1",
"protein_id": "ENSP00000638791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": null,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968732.1"
},
{
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.292-263C>T",
"hgvs_p": null,
"transcript": "ENST00000968736.1",
"protein_id": "ENSP00000638795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": null,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968736.1"
},
{
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.292-263C>T",
"hgvs_p": null,
"transcript": "ENST00000968737.1",
"protein_id": "ENSP00000638796.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": null,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968737.1"
},
{
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.292-263C>T",
"hgvs_p": null,
"transcript": "ENST00000968738.1",
"protein_id": "ENSP00000638797.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": null,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968738.1"
},
{
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.292-263C>T",
"hgvs_p": null,
"transcript": "ENST00000968739.1",
"protein_id": "ENSP00000638798.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": null,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968739.1"
},
{
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.292-263C>T",
"hgvs_p": null,
"transcript": "ENST00000968740.1",
"protein_id": "ENSP00000638799.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": null,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968740.1"
},
{
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDLIM5",
"gene_hgnc_id": 17468,
"hgvs_c": "c.292-263C>T",
"hgvs_p": null,
"transcript": "ENST00000968741.1",
"protein_id": "ENSP00000638800.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": null,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968741.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
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"phenotype_combined": "not specified",
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}
],
"message": null
}