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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: 6-111591854-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=111591854&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 111591854,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000368761.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"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.233G>T",
"hgvs_p": "p.Arg78Leu",
"transcript": "NM_147686.4",
"protein_id": "NP_679211.2",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 565,
"cds_start": 233,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 5833,
"mane_select": "ENST00000368761.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.233G>T",
"hgvs_p": "p.Arg78Leu",
"transcript": "ENST00000368761.11",
"protein_id": "ENSP00000357750.5",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 565,
"cds_start": 233,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 5833,
"mane_select": "NM_147686.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.260G>T",
"hgvs_p": "p.Arg87Leu",
"transcript": "ENST00000340026.10",
"protein_id": "ENSP00000345984.6",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 574,
"cds_start": 260,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 855,
"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.428G>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.459G>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": "R",
"aa_alt": "L",
"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.233G>T",
"hgvs_p": "p.Arg78Leu",
"transcript": "ENST00000699910.1",
"protein_id": "ENSP00000514682.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 585,
"cds_start": 233,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.260G>T",
"hgvs_p": "p.Arg87Leu",
"transcript": "NM_147200.3",
"protein_id": "NP_671733.2",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 574,
"cds_start": 260,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.233G>T",
"hgvs_p": "p.Arg78Leu",
"transcript": "ENST00000651547.2",
"protein_id": "ENSP00000514681.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 565,
"cds_start": 233,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.233G>T",
"hgvs_p": "p.Arg78Leu",
"transcript": "NM_001164281.3",
"protein_id": "NP_001157753.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 564,
"cds_start": 233,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 5830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.233G>T",
"hgvs_p": "p.Arg78Leu",
"transcript": "ENST00000359831.8",
"protein_id": "ENSP00000352889.4",
"transcript_support_level": 2,
"aa_start": 78,
"aa_end": null,
"aa_length": 564,
"cds_start": 233,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.233G>T",
"hgvs_p": "p.Arg78Leu",
"transcript": "ENST00000651359.1",
"protein_id": "ENSP00000499070.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 104,
"cds_start": 233,
"cds_end": null,
"cds_length": 317,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 536,
"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.525G>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.831G>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,
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"cdna_start": null,
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"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.414G>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,
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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,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2-AS1",
"gene_hgnc_id": 40005,
"hgvs_c": "n.278-5984C>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,
"cds_end": null,
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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
},
{
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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.317-5984C>A",
"hgvs_p": null,
"transcript": "ENST00000685477.2",
"protein_id": null,
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},
{
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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.468-5984C>A",
"hgvs_p": null,
"transcript": "ENST00000687951.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"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.355-5984C>A",
"hgvs_p": null,
"transcript": "ENST00000702563.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 819,
"mane_select": null,
"mane_plus": null,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2-AS1",
"gene_hgnc_id": 40005,
"hgvs_c": "n.577-5984C>A",
"hgvs_p": null,
"transcript": "ENST00000833698.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2-AS1",
"gene_hgnc_id": 40005,
"hgvs_c": "n.281-5984C>A",
"hgvs_p": null,
"transcript": "ENST00000833699.1",
"protein_id": 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.278-5984C>A",
"hgvs_p": null,
"transcript": "ENST00000833700.1",
"protein_id": null,
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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.486-5984C>A",
"hgvs_p": null,
"transcript": "NR_034108.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4943,
"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.195-5984C>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,
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"cdna_start": null,
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"cdna_length": 4652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"hgvs_c": "c.*48G>T",
"hgvs_p": null,
"transcript": "ENST00000650649.1",
"protein_id": "ENSP00000498534.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 60,
"cds_start": -4,
"cds_end": null,
"cds_length": 185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRAF3IP2",
"gene_hgnc_id": 1343,
"dbsnp": "rs973361796",
"frequency_reference_population": 6.840488e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84049e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.052660465240478516,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.011,
"revel_prediction": "Benign",
"alphamissense_score": 0.0864,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.35,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000368761.11",
"gene_symbol": "TRAF3IP2",
"hgnc_id": 1343,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.233G>T",
"hgvs_p": "p.Arg78Leu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000532353.2",
"gene_symbol": "TRAF3IP2-AS1",
"hgnc_id": 40005,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.278-5984C>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
}