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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: 9-133670608-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133670608&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133670608,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007101.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2471G>A",
"hgvs_p": "p.Arg824His",
"transcript": "NM_001134707.2",
"protein_id": "NP_001128179.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 918,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000439388.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134707.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2471G>A",
"hgvs_p": "p.Arg824His",
"transcript": "ENST00000439388.6",
"protein_id": "ENSP00000403084.1",
"transcript_support_level": 2,
"aa_start": 824,
"aa_end": null,
"aa_length": 918,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001134707.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439388.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2471G>A",
"hgvs_p": "p.Arg824His",
"transcript": "ENST00000371872.8",
"protein_id": "ENSP00000360938.4",
"transcript_support_level": 1,
"aa_start": 824,
"aa_end": null,
"aa_length": 918,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371872.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2651G>A",
"hgvs_p": "p.Arg884His",
"transcript": "ENST00000859366.1",
"protein_id": "ENSP00000529425.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 978,
"cds_start": 2651,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859366.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2558G>A",
"hgvs_p": "p.Arg853His",
"transcript": "ENST00000859363.1",
"protein_id": "ENSP00000529422.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 947,
"cds_start": 2558,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859363.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2558G>A",
"hgvs_p": "p.Arg853His",
"transcript": "ENST00000859364.1",
"protein_id": "ENSP00000529423.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 947,
"cds_start": 2558,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859364.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2558G>A",
"hgvs_p": "p.Arg853His",
"transcript": "ENST00000859370.1",
"protein_id": "ENSP00000529429.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 947,
"cds_start": 2558,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859370.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2492G>A",
"hgvs_p": "p.Arg831His",
"transcript": "ENST00000859367.1",
"protein_id": "ENSP00000529426.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 925,
"cds_start": 2492,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859367.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2471G>A",
"hgvs_p": "p.Arg824His",
"transcript": "NM_007101.4",
"protein_id": "NP_009032.2",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 918,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007101.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2471G>A",
"hgvs_p": "p.Arg824His",
"transcript": "ENST00000859362.1",
"protein_id": "ENSP00000529421.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 918,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859362.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2471G>A",
"hgvs_p": "p.Arg824His",
"transcript": "ENST00000859369.1",
"protein_id": "ENSP00000529428.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 918,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859369.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2471G>A",
"hgvs_p": "p.Arg824His",
"transcript": "ENST00000859372.1",
"protein_id": "ENSP00000529431.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 918,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859372.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2471G>A",
"hgvs_p": "p.Arg824His",
"transcript": "ENST00000859373.1",
"protein_id": "ENSP00000529432.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 918,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859373.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2471G>A",
"hgvs_p": "p.Arg824His",
"transcript": "ENST00000859374.1",
"protein_id": "ENSP00000529433.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 918,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859374.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2471G>A",
"hgvs_p": "p.Arg824His",
"transcript": "ENST00000859375.1",
"protein_id": "ENSP00000529434.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 918,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859375.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2468G>A",
"hgvs_p": "p.Arg823His",
"transcript": "ENST00000859365.1",
"protein_id": "ENSP00000529424.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 917,
"cds_start": 2468,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859365.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2387G>A",
"hgvs_p": "p.Arg796His",
"transcript": "ENST00000859371.1",
"protein_id": "ENSP00000529430.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 890,
"cds_start": 2387,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859371.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2366G>A",
"hgvs_p": "p.Arg789His",
"transcript": "ENST00000859368.1",
"protein_id": "ENSP00000529427.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 883,
"cds_start": 2366,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859368.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.1976G>A",
"hgvs_p": "p.Arg659His",
"transcript": "ENST00000928146.1",
"protein_id": "ENSP00000598205.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 753,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928146.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Arg252His",
"transcript": "ENST00000371868.5",
"protein_id": "ENSP00000360934.1",
"transcript_support_level": 2,
"aa_start": 252,
"aa_end": null,
"aa_length": 368,
"cds_start": 755,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371868.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2471G>A",
"hgvs_p": "p.Arg824His",
"transcript": "XM_047422894.1",
"protein_id": "XP_047278850.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 918,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422894.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"hgvs_c": "c.2471G>A",
"hgvs_p": "p.Arg824His",
"transcript": "XM_047422895.1",
"protein_id": "XP_047278851.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 918,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
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{
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{
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},
{
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],
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"biotype": "protein_coding",
"feature": "XM_047422897.1"
},
{
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},
{
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"strand": false,
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],
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"biotype": "pseudogene",
"feature": "XR_001746213.2"
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{
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],
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"biotype": "pseudogene",
"feature": "XR_001746216.2"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "SARDH",
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"transcript": "XR_001746217.2",
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"cdna_start": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001746217.2"
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],
"gene_symbol": "SARDH",
"gene_hgnc_id": 10536,
"dbsnp": "rs557114966",
"frequency_reference_population": 0.000013322117,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000126403,
"gnomad_genomes_af": 0.0000196972,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8612060546875,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.877,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1408,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.468,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007101.4",
"gene_symbol": "SARDH",
"hgnc_id": 10536,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.2471G>A",
"hgvs_p": "p.Arg824His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}