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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: 13-36335763-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=36335763&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 36335763,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000438666.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "NM_015087.5",
"protein_id": "NP_055902.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 666,
"cds_start": 68,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": "ENST00000438666.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "ENST00000438666.7",
"protein_id": "ENSP00000406061.2",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 666,
"cds_start": 68,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": "NM_015087.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "ENST00000451493.5",
"protein_id": "ENSP00000414147.1",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 666,
"cds_start": 68,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 4944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "ENST00000494062.2",
"protein_id": "ENSP00000473599.1",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 666,
"cds_start": 68,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 3018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "NM_001142294.2",
"protein_id": "NP_001135766.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 666,
"cds_start": 68,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 4822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "NM_001142295.2",
"protein_id": "NP_001135767.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 666,
"cds_start": 68,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 4893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "NM_001142296.2",
"protein_id": "NP_001135768.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 666,
"cds_start": 68,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 4883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "ENST00000355182.8",
"protein_id": "ENSP00000347314.4",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 666,
"cds_start": 68,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 4820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "ENST00000650221.1",
"protein_id": "ENSP00000497209.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 666,
"cds_start": 68,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 4881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "XM_005266313.6",
"protein_id": "XP_005266370.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 666,
"cds_start": 68,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 4885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "XM_005266314.4",
"protein_id": "XP_005266371.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 666,
"cds_start": 68,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 4965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "XM_005266315.4",
"protein_id": "XP_005266372.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 666,
"cds_start": 68,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 192,
"cdna_end": null,
"cdna_length": 4852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "XM_005266317.4",
"protein_id": "XP_005266374.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 666,
"cds_start": 68,
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"cdna_start": 120,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "XM_011535012.3",
"protein_id": "XP_011533314.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "XM_024449334.2",
"protein_id": "XP_024305102.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 666,
"cds_start": 68,
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"cdna_start": 312,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "XM_047430209.1",
"protein_id": "XP_047286165.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 3,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "XM_047430210.1",
"protein_id": "XP_047286166.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 666,
"cds_start": 68,
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"cdna_start": 475,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "XM_047430211.1",
"protein_id": "XP_047286167.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 666,
"cds_start": 68,
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"cds_length": 2001,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 5027,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "XM_047430212.1",
"protein_id": "XP_047286168.1",
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},
{
"aa_ref": "A",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp",
"transcript": "XM_047430213.1",
"protein_id": "XP_047286169.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
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"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "n.180C>A",
"hgvs_p": null,
"transcript": "ENST00000476377.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "n.266C>A",
"hgvs_p": null,
"transcript": "ENST00000494703.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 796,
"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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "n.129C>A",
"hgvs_p": null,
"transcript": "ENST00000495510.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"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": 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": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "n.240C>A",
"hgvs_p": null,
"transcript": "XR_007063671.1",
"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": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"dbsnp": "rs753340463",
"frequency_reference_population": 0.000034702254,
"hom_count_reference_population": 0,
"allele_count_reference_population": 56,
"gnomad_exomes_af": 0.0000369436,
"gnomad_genomes_af": 0.0000131544,
"gnomad_exomes_ac": 54,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.491671085357666,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.873,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9744,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.115,
"phylop100way_prediction": "Pathogenic",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS1_Supporting",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000438666.7",
"gene_symbol": "SPART",
"hgnc_id": 18514,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Asp"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}