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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: 13-36335146-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=36335146&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 36335146,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000438666.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"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.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "NM_015087.5",
"protein_id": "NP_055902.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 666,
"cds_start": 685,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": "ENST00000438666.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "ENST00000438666.7",
"protein_id": "ENSP00000406061.2",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 666,
"cds_start": 685,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": "NM_015087.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "ENST00000451493.5",
"protein_id": "ENSP00000414147.1",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 666,
"cds_start": 685,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 4944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "ENST00000494062.2",
"protein_id": "ENSP00000473599.1",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 666,
"cds_start": 685,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 3018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "NM_001142294.2",
"protein_id": "NP_001135766.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 666,
"cds_start": 685,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 4822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "NM_001142295.2",
"protein_id": "NP_001135767.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 666,
"cds_start": 685,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 4893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "NM_001142296.2",
"protein_id": "NP_001135768.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 666,
"cds_start": 685,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 4883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "ENST00000355182.8",
"protein_id": "ENSP00000347314.4",
"transcript_support_level": 5,
"aa_start": 229,
"aa_end": null,
"aa_length": 666,
"cds_start": 685,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 4820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "ENST00000650221.1",
"protein_id": "ENSP00000497209.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 666,
"cds_start": 685,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 4881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "XM_005266313.6",
"protein_id": "XP_005266370.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 666,
"cds_start": 685,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 4885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "XM_005266314.4",
"protein_id": "XP_005266371.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 666,
"cds_start": 685,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 4965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "XM_005266315.4",
"protein_id": "XP_005266372.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 666,
"cds_start": 685,
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"cds_length": 2001,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 4852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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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.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "XM_005266317.4",
"protein_id": "XP_005266374.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
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"cds_start": 685,
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"cdna_start": 737,
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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": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "XM_011535012.3",
"protein_id": "XP_011533314.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"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.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "XM_024449334.2",
"protein_id": "XP_024305102.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 666,
"cds_start": 685,
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"cdna_start": 929,
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"cdna_length": 4972,
"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,
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"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "XM_047430209.1",
"protein_id": "XP_047286165.1",
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},
{
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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.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "XM_047430210.1",
"protein_id": "XP_047286166.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 666,
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"cdna_start": 1092,
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"mane_select": null,
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"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.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "XM_047430211.1",
"protein_id": "XP_047286167.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 666,
"cds_start": 685,
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"cdna_start": 984,
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"cdna_length": 5027,
"mane_select": null,
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"feature": null
},
{
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"aa_alt": "E",
"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.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "XM_047430212.1",
"protein_id": "XP_047286168.1",
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},
{
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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.685C>G",
"hgvs_p": "p.Gln229Glu",
"transcript": "XM_047430213.1",
"protein_id": "XP_047286169.1",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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.746C>G",
"hgvs_p": null,
"transcript": "ENST00000495510.1",
"protein_id": null,
"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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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": 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.857C>G",
"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,
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"cdna_start": null,
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"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "n.*87C>G",
"hgvs_p": null,
"transcript": "ENST00000494703.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"dbsnp": "rs748835312",
"frequency_reference_population": 0.0000601004,
"hom_count_reference_population": 0,
"allele_count_reference_population": 97,
"gnomad_exomes_af": 0.0000656715,
"gnomad_genomes_af": 0.00000657272,
"gnomad_exomes_ac": 96,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8258193731307983,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.786,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.659,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.07,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000438666.7",
"gene_symbol": "SPART",
"hgnc_id": 18514,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.685C>G",
"hgvs_p": "p.Gln229Glu"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}