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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: 6-111591396-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=111591396&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 111591396,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000368761.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Leu231Phe",
"transcript": "NM_147686.4",
"protein_id": "NP_679211.2",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 565,
"cds_start": 691,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 5833,
"mane_select": "ENST00000368761.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Leu231Phe",
"transcript": "ENST00000368761.11",
"protein_id": "ENSP00000357750.5",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 565,
"cds_start": 691,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 5833,
"mane_select": "NM_147686.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Leu240Phe",
"transcript": "ENST00000340026.10",
"protein_id": "ENSP00000345984.6",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 574,
"cds_start": 718,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "n.886C>T",
"hgvs_p": null,
"transcript": "ENST00000528599.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "n.917C>T",
"hgvs_p": null,
"transcript": "ENST00000532708.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Leu231Phe",
"transcript": "ENST00000699910.1",
"protein_id": "ENSP00000514682.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 585,
"cds_start": 691,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Leu240Phe",
"transcript": "NM_147200.3",
"protein_id": "NP_671733.2",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 574,
"cds_start": 718,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Leu231Phe",
"transcript": "ENST00000651547.2",
"protein_id": "ENSP00000514681.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 565,
"cds_start": 691,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Leu231Phe",
"transcript": "NM_001164281.3",
"protein_id": "NP_001157753.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 564,
"cds_start": 691,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 5830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Leu231Phe",
"transcript": "ENST00000359831.8",
"protein_id": "ENSP00000352889.4",
"transcript_support_level": 2,
"aa_start": 231,
"aa_end": null,
"aa_length": 564,
"cds_start": 691,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "n.983C>T",
"hgvs_p": null,
"transcript": "ENST00000699911.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "n.1289C>T",
"hgvs_p": null,
"transcript": "ENST00000699912.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "n.872C>T",
"hgvs_p": null,
"transcript": "ENST00000699913.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.278-6442G>A",
"hgvs_p": null,
"transcript": "ENST00000532353.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 870,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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.317-6442G>A",
"hgvs_p": null,
"transcript": "ENST00000685477.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.468-6442G>A",
"hgvs_p": null,
"transcript": "ENST00000687951.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"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.355-6442G>A",
"hgvs_p": null,
"transcript": "ENST00000702563.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2-AS1",
"gene_hgnc_id": 40005,
"hgvs_c": "n.577-6442G>A",
"hgvs_p": null,
"transcript": "ENST00000833698.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 994,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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.281-6442G>A",
"hgvs_p": null,
"transcript": "ENST00000833699.1",
"protein_id": null,
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"aa_start": null,
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"cdna_start": null,
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"cdna_length": 680,
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"feature": null
},
{
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"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.278-6442G>A",
"hgvs_p": null,
"transcript": "ENST00000833700.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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.486-6442G>A",
"hgvs_p": null,
"transcript": "NR_034108.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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.195-6442G>A",
"hgvs_p": null,
"transcript": "NR_034109.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"dbsnp": "rs149860754",
"frequency_reference_population": 0.00030980533,
"hom_count_reference_population": 0,
"allele_count_reference_population": 480,
"gnomad_exomes_af": 0.000316353,
"gnomad_genomes_af": 0.000249691,
"gnomad_exomes_ac": 442,
"gnomad_genomes_ac": 38,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41002410650253296,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.189,
"revel_prediction": "Benign",
"alphamissense_score": 0.3045,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.654,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS1_Supporting",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000368761.11",
"gene_symbol": "TRAF3IP2",
"hgnc_id": 1343,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Leu231Phe"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000532353.2",
"gene_symbol": "TRAF3IP2-AS1",
"hgnc_id": 40005,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.278-6442G>A",
"hgvs_p": null
}
],
"clinvar_disease": " 8, familial,Candidiasis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Candidiasis, familial, 8",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}