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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: 1-155177242-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155177242&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155177242,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000334634.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "c.861G>C",
"hgvs_p": "p.Thr287Thr",
"transcript": "NM_025058.5",
"protein_id": "NP_079334.3",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 759,
"cds_start": 861,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": "ENST00000334634.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "c.861G>C",
"hgvs_p": "p.Thr287Thr",
"transcript": "ENST00000334634.9",
"protein_id": "ENSP00000334657.4",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 759,
"cds_start": 861,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": "NM_025058.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "c.822G>C",
"hgvs_p": "p.Thr274Thr",
"transcript": "ENST00000611379.1",
"protein_id": "ENSP00000478669.1",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 746,
"cds_start": 822,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 3082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "c.861G>C",
"hgvs_p": "p.Thr287Thr",
"transcript": "ENST00000368385.8",
"protein_id": "ENSP00000357369.4",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 551,
"cds_start": 861,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273088",
"gene_hgnc_id": null,
"hgvs_c": "c.49-3768C>G",
"hgvs_p": null,
"transcript": "ENST00000473363.3",
"protein_id": "ENSP00000477381.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "c.948G>C",
"hgvs_p": "p.Thr316Thr",
"transcript": "NM_001406245.1",
"protein_id": "NP_001393174.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 788,
"cds_start": 948,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 3265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "c.822G>C",
"hgvs_p": "p.Thr274Thr",
"transcript": "NM_001256601.1",
"protein_id": "NP_001243530.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 746,
"cds_start": 822,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 3082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "c.822G>C",
"hgvs_p": "p.Thr274Thr",
"transcript": "NM_001406247.1",
"protein_id": "NP_001393176.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 746,
"cds_start": 822,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "c.792G>C",
"hgvs_p": "p.Thr264Thr",
"transcript": "NM_001256599.2",
"protein_id": "NP_001243528.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 736,
"cds_start": 792,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "c.792G>C",
"hgvs_p": "p.Thr264Thr",
"transcript": "NM_001406256.1",
"protein_id": "NP_001393185.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 736,
"cds_start": 792,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "c.792G>C",
"hgvs_p": "p.Thr264Thr",
"transcript": "ENST00000368382.5",
"protein_id": "ENSP00000357366.1",
"transcript_support_level": 2,
"aa_start": 264,
"aa_end": null,
"aa_length": 736,
"cds_start": 792,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "c.861G>C",
"hgvs_p": "p.Thr287Thr",
"transcript": "ENST00000368383.7",
"protein_id": "ENSP00000357367.3",
"transcript_support_level": 5,
"aa_start": 287,
"aa_end": null,
"aa_length": 644,
"cds_start": 861,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "c.483G>C",
"hgvs_p": "p.Thr161Thr",
"transcript": "NM_001282378.2",
"protein_id": "NP_001269307.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 633,
"cds_start": 483,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "c.483G>C",
"hgvs_p": "p.Thr161Thr",
"transcript": "ENST00000545012.5",
"protein_id": "ENSP00000440254.1",
"transcript_support_level": 2,
"aa_start": 161,
"aa_end": null,
"aa_length": 633,
"cds_start": 483,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 2979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "c.861G>C",
"hgvs_p": "p.Thr287Thr",
"transcript": "NM_001406246.1",
"protein_id": "NP_001393175.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 554,
"cds_start": 861,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 2880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "c.861G>C",
"hgvs_p": "p.Thr287Thr",
"transcript": "NM_001282379.2",
"protein_id": "NP_001269308.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 551,
"cds_start": 861,
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"cdna_start": 979,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "c.861G>C",
"hgvs_p": "p.Thr287Thr",
"transcript": "ENST00000543729.5",
"protein_id": "ENSP00000442719.2",
"transcript_support_level": 5,
"aa_start": 287,
"aa_end": null,
"aa_length": 498,
"cds_start": 861,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "n.839G>C",
"hgvs_p": null,
"transcript": "ENST00000464760.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "n.1100G>C",
"hgvs_p": null,
"transcript": "ENST00000468878.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "n.928G>C",
"hgvs_p": null,
"transcript": "ENST00000474430.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "n.979G>C",
"hgvs_p": null,
"transcript": "NR_046327.2",
"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": 3216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "n.1260G>C",
"hgvs_p": null,
"transcript": "NR_046329.2",
"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": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM46",
"gene_hgnc_id": 19019,
"hgvs_c": "n.979G>C",
"hgvs_p": null,
"transcript": "NR_104150.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 12,
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"gene_symbol": "TRIM46",
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"hgvs_c": "n.1020G>C",
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"transcript": "NR_176037.1",
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"cdna_length": 3257,
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}
],
"gene_symbol": "TRIM46",
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"dbsnp": "rs3814316",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.602,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000334634.9",
"gene_symbol": "TRIM46",
"hgnc_id": 19019,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.861G>C",
"hgvs_p": "p.Thr287Thr"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000473363.3",
"gene_symbol": "ENSG00000273088",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.49-3768C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}