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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: X-48823187-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48823187&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 48823187,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001321225.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2788G>C",
"hgvs_p": "p.Gly930Arg",
"transcript": "NM_006044.4",
"protein_id": "NP_006035.2",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334136.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006044.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2788G>C",
"hgvs_p": "p.Gly930Arg",
"transcript": "ENST00000334136.11",
"protein_id": "ENSP00000334061.5",
"transcript_support_level": 1,
"aa_start": 930,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006044.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334136.11"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2788G>C",
"hgvs_p": "p.Gly930Arg",
"transcript": "ENST00000376619.7",
"protein_id": "ENSP00000365804.2",
"transcript_support_level": 1,
"aa_start": 930,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376619.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "n.3602G>C",
"hgvs_p": null,
"transcript": "ENST00000477528.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477528.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2905G>C",
"hgvs_p": "p.Gly969Arg",
"transcript": "ENST00000901907.1",
"protein_id": "ENSP00000571966.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1254,
"cds_start": 2905,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901907.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2830G>C",
"hgvs_p": "p.Gly944Arg",
"transcript": "NM_001321225.2",
"protein_id": "NP_001308154.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1229,
"cds_start": 2830,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321225.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2818G>C",
"hgvs_p": "p.Gly940Arg",
"transcript": "ENST00000901898.1",
"protein_id": "ENSP00000571957.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1225,
"cds_start": 2818,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901898.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2806G>C",
"hgvs_p": "p.Gly936Arg",
"transcript": "ENST00000901904.1",
"protein_id": "ENSP00000571963.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1221,
"cds_start": 2806,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901904.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2800G>C",
"hgvs_p": "p.Gly934Arg",
"transcript": "ENST00000901902.1",
"protein_id": "ENSP00000571961.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1219,
"cds_start": 2800,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901902.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2788G>C",
"hgvs_p": "p.Gly930Arg",
"transcript": "NM_001321226.2",
"protein_id": "NP_001308155.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321226.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2788G>C",
"hgvs_p": "p.Gly930Arg",
"transcript": "NM_001321227.2",
"protein_id": "NP_001308156.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321227.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2788G>C",
"hgvs_p": "p.Gly930Arg",
"transcript": "NM_001321228.2",
"protein_id": "NP_001308157.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321228.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2788G>C",
"hgvs_p": "p.Gly930Arg",
"transcript": "NM_001321229.1",
"protein_id": "NP_001308158.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321229.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2788G>C",
"hgvs_p": "p.Gly930Arg",
"transcript": "ENST00000376610.7",
"protein_id": "ENSP00000365795.3",
"transcript_support_level": 5,
"aa_start": 930,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376610.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2788G>C",
"hgvs_p": "p.Gly930Arg",
"transcript": "ENST00000376643.7",
"protein_id": "ENSP00000365831.3",
"transcript_support_level": 5,
"aa_start": 930,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376643.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2788G>C",
"hgvs_p": "p.Gly930Arg",
"transcript": "ENST00000423941.6",
"protein_id": "ENSP00000392815.2",
"transcript_support_level": 4,
"aa_start": 930,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423941.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2788G>C",
"hgvs_p": "p.Gly930Arg",
"transcript": "ENST00000440653.2",
"protein_id": "ENSP00000394377.2",
"transcript_support_level": 4,
"aa_start": 930,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440653.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2788G>C",
"hgvs_p": "p.Gly930Arg",
"transcript": "ENST00000443563.6",
"protein_id": "ENSP00000402751.2",
"transcript_support_level": 4,
"aa_start": 930,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443563.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2788G>C",
"hgvs_p": "p.Gly930Arg",
"transcript": "ENST00000643374.2",
"protein_id": "ENSP00000496046.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643374.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2788G>C",
"hgvs_p": "p.Gly930Arg",
"transcript": "ENST00000644068.1",
"protein_id": "ENSP00000496013.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644068.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2788G>C",
"hgvs_p": "p.Gly930Arg",
"transcript": "ENST00000901894.1",
"protein_id": "ENSP00000571953.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901894.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.2788G>C",
"hgvs_p": "p.Gly930Arg",
"transcript": "ENST00000931401.1",
"protein_id": "ENSP00000601460.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
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{
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{
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"feature": "ENST00000697894.1"
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{
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{
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"feature": "ENST00000697896.1"
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{
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"gene_symbol": "HDAC6",
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"transcript": "NR_135591.1",
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{
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"gene_symbol": "HDAC6",
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"transcript": "ENST00000480525.6",
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{
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"3_prime_UTR_variant"
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{
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"gene_symbol": "HDAC6",
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"transcript": "ENST00000697886.1",
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{
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"intron_variant"
],
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"gene_symbol": "HDAC6",
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"transcript": "ENST00000498808.7",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000498808.7"
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],
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"dbsnp": "rs148220149",
"frequency_reference_population": 0.0005368145,
"hom_count_reference_population": 194,
"allele_count_reference_population": 647,
"gnomad_exomes_af": 0.000435247,
"gnomad_genomes_af": 0.00153191,
"gnomad_exomes_ac": 476,
"gnomad_genomes_ac": 171,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007414102554321289,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.095,
"revel_prediction": "Benign",
"alphamissense_score": 0.0932,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.855,
"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,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001321225.2",
"gene_symbol": "HDAC6",
"hgnc_id": 14064,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.2830G>C",
"hgvs_p": "p.Gly944Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}