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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: 22-19180775-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19180775&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19180775,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007098.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4859G>A",
"hgvs_p": "p.Arg1620His",
"transcript": "NM_007098.4",
"protein_id": "NP_009029.3",
"transcript_support_level": null,
"aa_start": 1620,
"aa_end": null,
"aa_length": 1640,
"cds_start": 4859,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000427926.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007098.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4859G>A",
"hgvs_p": "p.Arg1620His",
"transcript": "ENST00000427926.6",
"protein_id": "ENSP00000441158.1",
"transcript_support_level": 1,
"aa_start": 1620,
"aa_end": null,
"aa_length": 1640,
"cds_start": 4859,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007098.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427926.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4688G>A",
"hgvs_p": "p.Arg1563His",
"transcript": "ENST00000621271.4",
"protein_id": "ENSP00000485020.1",
"transcript_support_level": 1,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1583,
"cds_start": 4688,
"cds_end": null,
"cds_length": 4752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621271.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "n.4952G>A",
"hgvs_p": null,
"transcript": "ENST00000615606.4",
"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": "ENST00000615606.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "n.*1014G>A",
"hgvs_p": null,
"transcript": "ENST00000617103.4",
"protein_id": "ENSP00000480709.1",
"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": "ENST00000617103.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "n.*1014G>A",
"hgvs_p": null,
"transcript": "ENST00000617103.4",
"protein_id": "ENSP00000480709.1",
"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": "ENST00000617103.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4859G>A",
"hgvs_p": "p.Arg1620His",
"transcript": "ENST00000965499.1",
"protein_id": "ENSP00000635558.1",
"transcript_support_level": null,
"aa_start": 1620,
"aa_end": null,
"aa_length": 1640,
"cds_start": 4859,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965499.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4835G>A",
"hgvs_p": "p.Arg1612His",
"transcript": "ENST00000897134.1",
"protein_id": "ENSP00000567193.1",
"transcript_support_level": null,
"aa_start": 1612,
"aa_end": null,
"aa_length": 1632,
"cds_start": 4835,
"cds_end": null,
"cds_length": 4899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897134.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4799G>A",
"hgvs_p": "p.Arg1600His",
"transcript": "ENST00000965503.1",
"protein_id": "ENSP00000635562.1",
"transcript_support_level": null,
"aa_start": 1600,
"aa_end": null,
"aa_length": 1620,
"cds_start": 4799,
"cds_end": null,
"cds_length": 4863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965503.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4751G>A",
"hgvs_p": "p.Arg1584His",
"transcript": "ENST00000965502.1",
"protein_id": "ENSP00000635561.1",
"transcript_support_level": null,
"aa_start": 1584,
"aa_end": null,
"aa_length": 1604,
"cds_start": 4751,
"cds_end": null,
"cds_length": 4815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965502.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4745G>A",
"hgvs_p": "p.Arg1582His",
"transcript": "ENST00000897132.1",
"protein_id": "ENSP00000567191.1",
"transcript_support_level": null,
"aa_start": 1582,
"aa_end": null,
"aa_length": 1602,
"cds_start": 4745,
"cds_end": null,
"cds_length": 4809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897132.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4706G>A",
"hgvs_p": "p.Arg1569His",
"transcript": "ENST00000932470.1",
"protein_id": "ENSP00000602529.1",
"transcript_support_level": null,
"aa_start": 1569,
"aa_end": null,
"aa_length": 1589,
"cds_start": 4706,
"cds_end": null,
"cds_length": 4770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932470.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4694G>A",
"hgvs_p": "p.Arg1565His",
"transcript": "ENST00000965514.1",
"protein_id": "ENSP00000635573.1",
"transcript_support_level": null,
"aa_start": 1565,
"aa_end": null,
"aa_length": 1585,
"cds_start": 4694,
"cds_end": null,
"cds_length": 4758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965514.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4691G>A",
"hgvs_p": "p.Arg1564His",
"transcript": "ENST00000932468.1",
"protein_id": "ENSP00000602527.1",
"transcript_support_level": null,
"aa_start": 1564,
"aa_end": null,
"aa_length": 1584,
"cds_start": 4691,
"cds_end": null,
"cds_length": 4755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932468.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4688G>A",
"hgvs_p": "p.Arg1563His",
"transcript": "NM_001835.4",
"protein_id": "NP_001826.3",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1583,
"cds_start": 4688,
"cds_end": null,
"cds_length": 4752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001835.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4688G>A",
"hgvs_p": "p.Arg1563His",
"transcript": "ENST00000965511.1",
"protein_id": "ENSP00000635570.1",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1583,
"cds_start": 4688,
"cds_end": null,
"cds_length": 4752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965511.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4685G>A",
"hgvs_p": "p.Arg1562His",
"transcript": "ENST00000932469.1",
"protein_id": "ENSP00000602528.1",
"transcript_support_level": null,
"aa_start": 1562,
"aa_end": null,
"aa_length": 1582,
"cds_start": 4685,
"cds_end": null,
"cds_length": 4749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932469.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4685G>A",
"hgvs_p": "p.Arg1562His",
"transcript": "ENST00000965515.1",
"protein_id": "ENSP00000635574.1",
"transcript_support_level": null,
"aa_start": 1562,
"aa_end": null,
"aa_length": 1582,
"cds_start": 4685,
"cds_end": null,
"cds_length": 4749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965515.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4664G>A",
"hgvs_p": "p.Arg1555His",
"transcript": "ENST00000897133.1",
"protein_id": "ENSP00000567192.1",
"transcript_support_level": null,
"aa_start": 1555,
"aa_end": null,
"aa_length": 1575,
"cds_start": 4664,
"cds_end": null,
"cds_length": 4728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897133.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4646G>A",
"hgvs_p": "p.Arg1549His",
"transcript": "ENST00000965496.1",
"protein_id": "ENSP00000635555.1",
"transcript_support_level": null,
"aa_start": 1549,
"aa_end": null,
"aa_length": 1569,
"cds_start": 4646,
"cds_end": null,
"cds_length": 4710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965496.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4586G>A",
"hgvs_p": "p.Arg1529His",
"transcript": "ENST00000965498.1",
"protein_id": "ENSP00000635557.1",
"transcript_support_level": null,
"aa_start": 1529,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4586,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965498.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4577G>A",
"hgvs_p": "p.Arg1526His",
"transcript": "ENST00000965495.1",
"protein_id": "ENSP00000635554.1",
"transcript_support_level": null,
"aa_start": 1526,
"aa_end": null,
"aa_length": 1546,
"cds_start": 4577,
"cds_end": null,
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{
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{
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{
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{
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"biotype": "pseudogene",
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],
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"computational_score_selected": 0.0017917454242706299,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -14,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -14,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_007098.4",
"gene_symbol": "CLTCL1",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR,AD",
"hgvs_c": "c.4859G>A",
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{
"score": -14,
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"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000804544.1",
"gene_symbol": "LINC01311",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.304-3566C>T",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}