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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-48823531-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48823531&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 48823531,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001321225.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"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.3132A>G",
"hgvs_p": "p.Ile1044Met",
"transcript": "NM_006044.4",
"protein_id": "NP_006035.2",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3132,
"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": "I",
"aa_alt": "M",
"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.3132A>G",
"hgvs_p": "p.Ile1044Met",
"transcript": "ENST00000334136.11",
"protein_id": "ENSP00000334061.5",
"transcript_support_level": 1,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3132,
"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": "I",
"aa_alt": "M",
"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.3132A>G",
"hgvs_p": "p.Ile1044Met",
"transcript": "ENST00000376619.7",
"protein_id": "ENSP00000365804.2",
"transcript_support_level": 1,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3132,
"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.3946A>G",
"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": "I",
"aa_alt": "M",
"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.3249A>G",
"hgvs_p": "p.Ile1083Met",
"transcript": "ENST00000901907.1",
"protein_id": "ENSP00000571966.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1254,
"cds_start": 3249,
"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": "I",
"aa_alt": "M",
"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.3174A>G",
"hgvs_p": "p.Ile1058Met",
"transcript": "NM_001321225.2",
"protein_id": "NP_001308154.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3174,
"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": "I",
"aa_alt": "M",
"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.3162A>G",
"hgvs_p": "p.Ile1054Met",
"transcript": "ENST00000901898.1",
"protein_id": "ENSP00000571957.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3162,
"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": "I",
"aa_alt": "M",
"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.3150A>G",
"hgvs_p": "p.Ile1050Met",
"transcript": "ENST00000901904.1",
"protein_id": "ENSP00000571963.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1221,
"cds_start": 3150,
"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": "I",
"aa_alt": "M",
"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.3144A>G",
"hgvs_p": "p.Ile1048Met",
"transcript": "ENST00000901902.1",
"protein_id": "ENSP00000571961.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3144,
"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": "I",
"aa_alt": "M",
"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.3132A>G",
"hgvs_p": "p.Ile1044Met",
"transcript": "NM_001321226.2",
"protein_id": "NP_001308155.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3132,
"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": "I",
"aa_alt": "M",
"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.3132A>G",
"hgvs_p": "p.Ile1044Met",
"transcript": "NM_001321227.2",
"protein_id": "NP_001308156.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3132,
"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": "I",
"aa_alt": "M",
"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.3132A>G",
"hgvs_p": "p.Ile1044Met",
"transcript": "NM_001321228.2",
"protein_id": "NP_001308157.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3132,
"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": "I",
"aa_alt": "M",
"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.3132A>G",
"hgvs_p": "p.Ile1044Met",
"transcript": "NM_001321229.1",
"protein_id": "NP_001308158.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3132,
"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": "I",
"aa_alt": "M",
"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.3132A>G",
"hgvs_p": "p.Ile1044Met",
"transcript": "ENST00000376610.7",
"protein_id": "ENSP00000365795.3",
"transcript_support_level": 5,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3132,
"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": "I",
"aa_alt": "M",
"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.3132A>G",
"hgvs_p": "p.Ile1044Met",
"transcript": "ENST00000376643.7",
"protein_id": "ENSP00000365831.3",
"transcript_support_level": 5,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3132,
"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": "I",
"aa_alt": "M",
"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.3132A>G",
"hgvs_p": "p.Ile1044Met",
"transcript": "ENST00000423941.6",
"protein_id": "ENSP00000392815.2",
"transcript_support_level": 4,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3132,
"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": "I",
"aa_alt": "M",
"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.3132A>G",
"hgvs_p": "p.Ile1044Met",
"transcript": "ENST00000440653.2",
"protein_id": "ENSP00000394377.2",
"transcript_support_level": 4,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3132,
"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": "I",
"aa_alt": "M",
"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.3132A>G",
"hgvs_p": "p.Ile1044Met",
"transcript": "ENST00000443563.6",
"protein_id": "ENSP00000402751.2",
"transcript_support_level": 4,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3132,
"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": "I",
"aa_alt": "M",
"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.3132A>G",
"hgvs_p": "p.Ile1044Met",
"transcript": "ENST00000643374.2",
"protein_id": "ENSP00000496046.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3132,
"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": "I",
"aa_alt": "M",
"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.3132A>G",
"hgvs_p": "p.Ile1044Met",
"transcript": "ENST00000644068.1",
"protein_id": "ENSP00000496013.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3132,
"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": "I",
"aa_alt": "M",
"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.3132A>G",
"hgvs_p": "p.Ile1044Met",
"transcript": "ENST00000901894.1",
"protein_id": "ENSP00000571953.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3132,
"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": "I",
"aa_alt": "M",
"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.3132A>G",
"hgvs_p": "p.Ile1044Met",
"transcript": "ENST00000931401.1",
"protein_id": "ENSP00000601460.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3132,
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{
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{
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{
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],
"gene_symbol": "HDAC6",
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"dbsnp": "rs367767249",
"frequency_reference_population": 0.0006042201,
"hom_count_reference_population": 237,
"allele_count_reference_population": 730,
"gnomad_exomes_af": 0.000639099,
"gnomad_genomes_af": 0.000260527,
"gnomad_exomes_ac": 701,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.037171781063079834,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.0764,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.09,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001321225.2",
"gene_symbol": "HDAC6",
"hgnc_id": 14064,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.3174A>G",
"hgvs_p": "p.Ile1058Met"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}