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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: 13-36304427-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=36304427&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 36304427,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015087.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "NM_015087.5",
"protein_id": "NP_055902.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 666,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": "ENST00000438666.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015087.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "ENST00000438666.7",
"protein_id": "ENSP00000406061.2",
"transcript_support_level": 1,
"aa_start": 647,
"aa_end": null,
"aa_length": 666,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": "NM_015087.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438666.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "ENST00000451493.5",
"protein_id": "ENSP00000414147.1",
"transcript_support_level": 1,
"aa_start": 647,
"aa_end": null,
"aa_length": 666,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 4944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451493.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "ENST00000494062.2",
"protein_id": "ENSP00000473599.1",
"transcript_support_level": 1,
"aa_start": 647,
"aa_end": null,
"aa_length": 666,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2193,
"cdna_end": null,
"cdna_length": 3018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494062.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Val664Met",
"transcript": "ENST00000888927.1",
"protein_id": "ENSP00000558986.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 683,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888927.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "NM_001142294.2",
"protein_id": "NP_001135766.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 666,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2033,
"cdna_end": null,
"cdna_length": 4822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142294.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "NM_001142295.2",
"protein_id": "NP_001135767.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 666,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 4893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142295.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "NM_001142296.2",
"protein_id": "NP_001135768.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 666,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 4883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142296.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "ENST00000355182.8",
"protein_id": "ENSP00000347314.4",
"transcript_support_level": 5,
"aa_start": 647,
"aa_end": null,
"aa_length": 666,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2033,
"cdna_end": null,
"cdna_length": 4820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355182.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "ENST00000650221.1",
"protein_id": "ENSP00000497209.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 666,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2106,
"cdna_end": null,
"cdna_length": 4881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650221.1"
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "ENST00000888906.1",
"protein_id": "ENSP00000558965.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 666,
"cds_start": 1939,
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"cdna_start": 2082,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SPART",
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"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "ENST00000888908.1",
"protein_id": "ENSP00000558967.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 1939,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "SPART",
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"transcript": "ENST00000888909.1",
"protein_id": "ENSP00000558968.1",
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"cds_start": 1939,
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"cdna_start": 1993,
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},
{
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],
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "ENST00000888912.1",
"protein_id": "ENSP00000558971.1",
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"feature": "ENST00000888912.1"
},
{
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],
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000888913.1"
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "ENST00000888914.1",
"protein_id": "ENSP00000558973.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 666,
"cds_start": 1939,
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"cdna_start": 2220,
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"cdna_length": 5009,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000888914.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "ENST00000888916.1",
"protein_id": "ENSP00000558975.1",
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},
{
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"consequences": [
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],
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"transcript": "ENST00000888917.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "SPART",
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"transcript": "ENST00000888918.1",
"protein_id": "ENSP00000558977.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "ENST00000888920.1",
"protein_id": "ENSP00000558979.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 666,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2552,
"cdna_end": null,
"cdna_length": 3378,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888920.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met",
"transcript": "ENST00000888921.1",
"protein_id": "ENSP00000558980.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 666,
"cds_start": 1939,
"cds_end": null,
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"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888921.1"
},
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{
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{
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{
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"gene_symbol": "SPART",
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{
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"protein_coding": true,
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"gene_symbol": "SPART",
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{
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{
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],
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{
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"gene_symbol": "SPART",
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"hgvs_c": "n.*30G>A",
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"biotype": "pseudogene",
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],
"gene_symbol": "SPART",
"gene_hgnc_id": 18514,
"dbsnp": "rs146683642",
"frequency_reference_population": 0.00017408952,
"hom_count_reference_population": 2,
"allele_count_reference_population": 281,
"gnomad_exomes_af": 0.0001074,
"gnomad_genomes_af": 0.000814225,
"gnomad_exomes_ac": 157,
"gnomad_genomes_ac": 124,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005557924509048462,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.217,
"revel_prediction": "Benign",
"alphamissense_score": 0.0668,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.826,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_015087.5",
"gene_symbol": "SPART",
"hgnc_id": 18514,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Val647Met"
}
],
"clinvar_disease": "SPART-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "not provided|SPART-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}