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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: 6-111575660-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=111575660&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 111575660,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_147200.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Asn395Ser",
"transcript": "NM_147686.4",
"protein_id": "NP_679211.2",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 565,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368761.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147686.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Asn395Ser",
"transcript": "ENST00000368761.11",
"protein_id": "ENSP00000357750.5",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 565,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_147686.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368761.11"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.1211A>G",
"hgvs_p": "p.Asn404Ser",
"transcript": "ENST00000340026.10",
"protein_id": "ENSP00000345984.6",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 574,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340026.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "n.1379A>G",
"hgvs_p": null,
"transcript": "ENST00000528599.1",
"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": "ENST00000528599.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "n.1410A>G",
"hgvs_p": null,
"transcript": "ENST00000532708.5",
"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": "ENST00000532708.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Asn395Ser",
"transcript": "ENST00000699910.1",
"protein_id": "ENSP00000514682.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 585,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699910.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.1211A>G",
"hgvs_p": "p.Asn404Ser",
"transcript": "NM_147200.3",
"protein_id": "NP_671733.2",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 574,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147200.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Asn395Ser",
"transcript": "ENST00000651547.2",
"protein_id": "ENSP00000514681.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 565,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651547.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Asn395Ser",
"transcript": "ENST00000907309.1",
"protein_id": "ENSP00000577368.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 565,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907309.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Asn395Ser",
"transcript": "ENST00000907310.1",
"protein_id": "ENSP00000577369.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 565,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907310.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Asn395Ser",
"transcript": "ENST00000912363.1",
"protein_id": "ENSP00000582422.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 565,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912363.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Asn395Ser",
"transcript": "ENST00000945262.1",
"protein_id": "ENSP00000615321.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 565,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945262.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Asn395Ser",
"transcript": "ENST00000945263.1",
"protein_id": "ENSP00000615322.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 565,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945263.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Asn395Ser",
"transcript": "NM_001164281.3",
"protein_id": "NP_001157753.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164281.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Asn395Ser",
"transcript": "ENST00000359831.8",
"protein_id": "ENSP00000352889.4",
"transcript_support_level": 2,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359831.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "n.1476A>G",
"hgvs_p": null,
"transcript": "ENST00000699911.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000699911.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2-AS1",
"gene_hgnc_id": 40005,
"hgvs_c": "n.433-702T>C",
"hgvs_p": null,
"transcript": "ENST00000438298.8",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000438298.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2-AS1",
"gene_hgnc_id": 40005,
"hgvs_c": "n.211-702T>C",
"hgvs_p": null,
"transcript": "ENST00000440395.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000440395.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2-AS1",
"gene_hgnc_id": 40005,
"hgvs_c": "n.299-702T>C",
"hgvs_p": null,
"transcript": "ENST00000442928.6",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000442928.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2-AS1",
"gene_hgnc_id": 40005,
"hgvs_c": "n.371-702T>C",
"hgvs_p": null,
"transcript": "ENST00000449449.8",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000449449.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2-AS1",
"gene_hgnc_id": 40005,
"hgvs_c": "n.93-702T>C",
"hgvs_p": null,
"transcript": "ENST00000456352.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000456352.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2-AS1",
"gene_hgnc_id": 40005,
"hgvs_c": "n.278-22178T>C",
"hgvs_p": null,
"transcript": "ENST00000532353.2",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000532353.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.64,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -20,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "NM_147200.3",
"gene_symbol": "TRAF3IP2",
"hgnc_id": 1343,
"effects": [
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],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1211A>G",
"hgvs_p": "p.Asn404Ser"
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{
"score": -16,
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"criteria": [
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"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000438298.8",
"gene_symbol": "TRAF3IP2-AS1",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": " 8, familial,Candidiasis,TRAF3IP2-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Candidiasis, familial, 8|not provided|TRAF3IP2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}