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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: 2-3479434-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=3479434&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 3479434,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_016030.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2181C>T",
"hgvs_p": "p.Phe727Phe",
"transcript": "NM_016030.6",
"protein_id": "NP_057114.5",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 735,
"cds_start": 2181,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324266.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016030.6"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2181C>T",
"hgvs_p": "p.Phe727Phe",
"transcript": "ENST00000324266.10",
"protein_id": "ENSP00000324318.5",
"transcript_support_level": 1,
"aa_start": 727,
"aa_end": null,
"aa_length": 735,
"cds_start": 2181,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016030.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324266.10"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2355C>T",
"hgvs_p": "p.Phe785Phe",
"transcript": "ENST00000858088.1",
"protein_id": "ENSP00000528147.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 793,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858088.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2286C>T",
"hgvs_p": "p.Phe762Phe",
"transcript": "ENST00000964175.1",
"protein_id": "ENSP00000634234.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 770,
"cds_start": 2286,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964175.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2259C>T",
"hgvs_p": "p.Phe753Phe",
"transcript": "ENST00000858087.1",
"protein_id": "ENSP00000528146.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 761,
"cds_start": 2259,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858087.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2220C>T",
"hgvs_p": "p.Phe740Phe",
"transcript": "ENST00000964174.1",
"protein_id": "ENSP00000634233.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 748,
"cds_start": 2220,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964174.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2199C>T",
"hgvs_p": "p.Phe733Phe",
"transcript": "ENST00000858086.1",
"protein_id": "ENSP00000528145.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 741,
"cds_start": 2199,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858086.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2181C>T",
"hgvs_p": "p.Phe727Phe",
"transcript": "NM_001321102.2",
"protein_id": "NP_001308031.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 735,
"cds_start": 2181,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321102.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2181C>T",
"hgvs_p": "p.Phe727Phe",
"transcript": "ENST00000382110.6",
"protein_id": "ENSP00000371544.2",
"transcript_support_level": 2,
"aa_start": 727,
"aa_end": null,
"aa_length": 735,
"cds_start": 2181,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382110.6"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2181C>T",
"hgvs_p": "p.Phe727Phe",
"transcript": "ENST00000935225.1",
"protein_id": "ENSP00000605284.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 735,
"cds_start": 2181,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935225.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2181C>T",
"hgvs_p": "p.Phe727Phe",
"transcript": "ENST00000935226.1",
"protein_id": "ENSP00000605285.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 735,
"cds_start": 2181,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935226.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2082C>T",
"hgvs_p": "p.Phe694Phe",
"transcript": "ENST00000858085.1",
"protein_id": "ENSP00000528144.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 702,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858085.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2067C>T",
"hgvs_p": "p.Phe689Phe",
"transcript": "ENST00000858082.1",
"protein_id": "ENSP00000528141.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 697,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858082.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2067C>T",
"hgvs_p": "p.Phe689Phe",
"transcript": "ENST00000858083.1",
"protein_id": "ENSP00000528142.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 697,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858083.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.1815C>T",
"hgvs_p": "p.Phe605Phe",
"transcript": "ENST00000858084.1",
"protein_id": "ENSP00000528143.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 613,
"cds_start": 1815,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858084.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.1815C>T",
"hgvs_p": "p.Phe605Phe",
"transcript": "ENST00000858089.1",
"protein_id": "ENSP00000528148.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 613,
"cds_start": 1815,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858089.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.1668C>T",
"hgvs_p": "p.Phe556Phe",
"transcript": "ENST00000935227.1",
"protein_id": "ENSP00000605286.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 564,
"cds_start": 1668,
"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": "ENST00000935227.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Phe226Phe",
"transcript": "ENST00000415624.5",
"protein_id": "ENSP00000396592.1",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 234,
"cds_start": 678,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415624.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.339C>T",
"hgvs_p": "p.Phe113Phe",
"transcript": "ENST00000416918.5",
"protein_id": "ENSP00000395420.1",
"transcript_support_level": 3,
"aa_start": 113,
"aa_end": null,
"aa_length": 121,
"cds_start": 339,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416918.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2067C>T",
"hgvs_p": "p.Phe689Phe",
"transcript": "XM_011510350.3",
"protein_id": "XP_011508652.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 697,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510350.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.2067C>T",
"hgvs_p": "p.Phe689Phe",
"transcript": "XM_047444637.1",
"protein_id": "XP_047300593.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 697,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444637.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAPPC12",
"gene_hgnc_id": 24284,
"hgvs_c": "c.1236C>T",
"hgvs_p": "p.Phe412Phe",
"transcript": "XM_011510355.3",
"protein_id": "XP_011508657.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
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"cds_start": 1236,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.42,
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"phylop100way_prediction": "Benign",
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{
"score": -19,
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"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BA1"
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"verdict": "Benign",
"transcript": "NM_016030.6",
"gene_symbol": "TRAPPC12",
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"effects": [
"synonymous_variant"
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"inheritance_mode": "AR",
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{
"score": -18,
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"criteria": [
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"BA1"
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"verdict": "Benign",
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"gene_symbol": "TRAPPC12-AS1",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome,TRAPPC12-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome|not provided|TRAPPC12-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}