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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: 2-201145378-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201145378&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201145378,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_003879.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607C>A",
"hgvs_p": "p.Leu203Ile",
"transcript": "NM_003879.7",
"protein_id": "NP_003870.4",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 480,
"cds_start": 607,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000309955.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003879.7"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607C>A",
"hgvs_p": "p.Leu203Ile",
"transcript": "ENST00000309955.8",
"protein_id": "ENSP00000312455.2",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 480,
"cds_start": 607,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003879.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309955.8"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607C>A",
"hgvs_p": "p.Leu203Ile",
"transcript": "ENST00000423241.6",
"protein_id": "ENSP00000399420.2",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 480,
"cds_start": 607,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423241.6"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607C>A",
"hgvs_p": "p.Leu203Ile",
"transcript": "ENST00000457277.5",
"protein_id": "ENSP00000411535.1",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 462,
"cds_start": 607,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457277.5"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607-4376C>A",
"hgvs_p": null,
"transcript": "ENST00000341582.10",
"protein_id": "ENSP00000345807.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": null,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341582.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.725C>A",
"hgvs_p": null,
"transcript": "ENST00000439154.6",
"protein_id": "ENSP00000398551.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000439154.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "n.255C>A",
"hgvs_p": null,
"transcript": "ENST00000474842.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474842.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CFLAR-AS1",
"gene_hgnc_id": 14437,
"hgvs_c": "n.915+3356G>T",
"hgvs_p": null,
"transcript": "ENST00000415011.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000415011.6"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607C>A",
"hgvs_p": "p.Leu203Ile",
"transcript": "ENST00000890675.1",
"protein_id": "ENSP00000560734.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 555,
"cds_start": 607,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890675.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607C>A",
"hgvs_p": "p.Leu203Ile",
"transcript": "ENST00000948379.1",
"protein_id": "ENSP00000618438.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 555,
"cds_start": 607,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948379.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607C>A",
"hgvs_p": "p.Leu203Ile",
"transcript": "ENST00000948374.1",
"protein_id": "ENSP00000618433.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 511,
"cds_start": 607,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948374.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607C>A",
"hgvs_p": "p.Leu203Ile",
"transcript": "ENST00000948375.1",
"protein_id": "ENSP00000618434.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 510,
"cds_start": 607,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948375.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607C>A",
"hgvs_p": "p.Leu203Ile",
"transcript": "NM_001127183.4",
"protein_id": "NP_001120655.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 480,
"cds_start": 607,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127183.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607C>A",
"hgvs_p": "p.Leu203Ile",
"transcript": "ENST00000890677.1",
"protein_id": "ENSP00000560736.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 480,
"cds_start": 607,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890677.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607C>A",
"hgvs_p": "p.Leu203Ile",
"transcript": "ENST00000890678.1",
"protein_id": "ENSP00000560737.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 480,
"cds_start": 607,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890678.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607C>A",
"hgvs_p": "p.Leu203Ile",
"transcript": "ENST00000890679.1",
"protein_id": "ENSP00000560738.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 480,
"cds_start": 607,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890679.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607C>A",
"hgvs_p": "p.Leu203Ile",
"transcript": "ENST00000890681.1",
"protein_id": "ENSP00000560740.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 480,
"cds_start": 607,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890681.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607C>A",
"hgvs_p": "p.Leu203Ile",
"transcript": "ENST00000948373.1",
"protein_id": "ENSP00000618432.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 480,
"cds_start": 607,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948373.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607C>A",
"hgvs_p": "p.Leu203Ile",
"transcript": "ENST00000948376.1",
"protein_id": "ENSP00000618435.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 480,
"cds_start": 607,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948376.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607C>A",
"hgvs_p": "p.Leu203Ile",
"transcript": "ENST00000948377.1",
"protein_id": "ENSP00000618436.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 480,
"cds_start": 607,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948377.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
"hgvs_c": "c.607C>A",
"hgvs_p": "p.Leu203Ile",
"transcript": "ENST00000948380.1",
"protein_id": "ENSP00000618439.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 480,
"cds_start": 607,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948380.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFLAR",
"gene_hgnc_id": 1876,
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"dbscsnv_ada_prediction": "Benign",
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}