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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: 1-115992159-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=115992159&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 115992159,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018420.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "c.216T>A",
"hgvs_p": "p.Phe72Leu",
"transcript": "NM_018420.3",
"protein_id": "NP_060890.2",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 547,
"cds_start": 216,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 4705,
"mane_select": "ENST00000369503.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "c.216T>A",
"hgvs_p": "p.Phe72Leu",
"transcript": "ENST00000369503.9",
"protein_id": "ENSP00000358515.4",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 547,
"cds_start": 216,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 4705,
"mane_select": "NM_018420.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "c.216T>A",
"hgvs_p": "p.Phe72Leu",
"transcript": "ENST00000369502.1",
"protein_id": "ENSP00000358514.1",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 245,
"cds_start": 216,
"cds_end": null,
"cds_length": 738,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 1230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "c.216T>A",
"hgvs_p": "p.Phe72Leu",
"transcript": "XM_047424411.1",
"protein_id": "XP_047280367.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 486,
"cds_start": 216,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "c.216T>A",
"hgvs_p": "p.Phe72Leu",
"transcript": "XM_047424414.1",
"protein_id": "XP_047280370.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 447,
"cds_start": 216,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "c.216T>A",
"hgvs_p": "p.Phe72Leu",
"transcript": "XM_024448238.2",
"protein_id": "XP_024304006.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 426,
"cds_start": 216,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "c.216T>A",
"hgvs_p": "p.Phe72Leu",
"transcript": "XM_047424415.1",
"protein_id": "XP_047280371.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 420,
"cds_start": 216,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "c.216T>A",
"hgvs_p": "p.Phe72Leu",
"transcript": "XM_024448239.2",
"protein_id": "XP_024304007.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 403,
"cds_start": 216,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 6073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "c.216T>A",
"hgvs_p": "p.Phe72Leu",
"transcript": "XM_005271004.4",
"protein_id": "XP_005271061.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 320,
"cds_start": 216,
"cds_end": null,
"cds_length": 963,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "c.216T>A",
"hgvs_p": "p.Phe72Leu",
"transcript": "XM_047424419.1",
"protein_id": "XP_047280375.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 314,
"cds_start": 216,
"cds_end": null,
"cds_length": 945,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "c.216T>A",
"hgvs_p": "p.Phe72Leu",
"transcript": "XM_047424420.1",
"protein_id": "XP_047280376.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 314,
"cds_start": 216,
"cds_end": null,
"cds_length": 945,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "c.216T>A",
"hgvs_p": "p.Phe72Leu",
"transcript": "XM_047424422.1",
"protein_id": "XP_047280378.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 245,
"cds_start": 216,
"cds_end": null,
"cds_length": 738,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 933,
"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": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "n.331T>A",
"hgvs_p": null,
"transcript": "XR_002957027.2",
"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,
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"cdna_length": 3283,
"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": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "n.331T>A",
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"transcript": "XR_002957032.2",
"protein_id": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"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": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "n.331T>A",
"hgvs_p": null,
"transcript": "XR_007061932.1",
"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": 2367,
"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": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "n.331T>A",
"hgvs_p": null,
"transcript": "XR_007061933.1",
"protein_id": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"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": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "n.331T>A",
"hgvs_p": null,
"transcript": "XR_007061934.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": 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
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"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": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "n.331T>A",
"hgvs_p": null,
"transcript": "XR_007061935.1",
"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": 1256,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "n.331T>A",
"hgvs_p": null,
"transcript": "XR_007061936.1",
"protein_id": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "n.331T>A",
"hgvs_p": null,
"transcript": "XR_007061937.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "c.-304T>A",
"hgvs_p": null,
"transcript": "XM_047424416.1",
"protein_id": "XP_047280372.1",
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"aa_start": 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,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "c.-351T>A",
"hgvs_p": null,
"transcript": "XM_047424417.1",
"protein_id": "XP_047280373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
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"cdna_length": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "c.87+15445T>A",
"hgvs_p": null,
"transcript": "XM_047424412.1",
"protein_id": "XP_047280368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"hgvs_c": "c.-174T>A",
"hgvs_p": null,
"transcript": "XM_047424413.1",
"protein_id": "XP_047280369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": -4,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC22A15",
"gene_hgnc_id": 20301,
"dbsnp": "rs1655173210",
"frequency_reference_population": 0.0000065696117,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656961,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04616546630859375,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.208,
"revel_prediction": "Benign",
"alphamissense_score": 0.3495,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.122,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018420.3",
"gene_symbol": "SLC22A15",
"hgnc_id": 20301,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.216T>A",
"hgvs_p": "p.Phe72Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}