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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-48806426-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48806426&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 48806426,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001321225.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Val166Phe",
"transcript": "NM_006044.4",
"protein_id": "NP_006035.2",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 1215,
"cds_start": 496,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": "ENST00000334136.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006044.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Val166Phe",
"transcript": "ENST00000334136.11",
"protein_id": "ENSP00000334061.5",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 1215,
"cds_start": 496,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": "NM_006044.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334136.11"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Val166Phe",
"transcript": "ENST00000376619.7",
"protein_id": "ENSP00000365804.2",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 1215,
"cds_start": 496,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 4197,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376619.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.*751G>T",
"hgvs_p": null,
"transcript": "ENST00000462730.5",
"protein_id": "ENSP00000496727.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": null,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462730.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "n.1310G>T",
"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": 4832,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477528.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Val166Phe",
"transcript": "ENST00000901907.1",
"protein_id": "ENSP00000571966.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 1254,
"cds_start": 496,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 4175,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901907.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.538G>T",
"hgvs_p": "p.Val180Phe",
"transcript": "NM_001321225.2",
"protein_id": "NP_001308154.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 1229,
"cds_start": 538,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321225.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.526G>T",
"hgvs_p": "p.Val176Phe",
"transcript": "ENST00000901898.1",
"protein_id": "ENSP00000571957.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 1225,
"cds_start": 526,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 4144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901898.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Val166Phe",
"transcript": "ENST00000901904.1",
"protein_id": "ENSP00000571963.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 1221,
"cds_start": 496,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 4103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901904.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Val166Phe",
"transcript": "ENST00000901902.1",
"protein_id": "ENSP00000571961.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 1219,
"cds_start": 496,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 4150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901902.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Val166Phe",
"transcript": "NM_001321226.2",
"protein_id": "NP_001308155.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 1215,
"cds_start": 496,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321226.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Val166Phe",
"transcript": "NM_001321227.2",
"protein_id": "NP_001308156.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 1215,
"cds_start": 496,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 4248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321227.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Val166Phe",
"transcript": "NM_001321228.2",
"protein_id": "NP_001308157.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 1215,
"cds_start": 496,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 4211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321228.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Val166Phe",
"transcript": "NM_001321229.1",
"protein_id": "NP_001308158.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 1215,
"cds_start": 496,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 4122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321229.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Val166Phe",
"transcript": "ENST00000376610.7",
"protein_id": "ENSP00000365795.3",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 1215,
"cds_start": 496,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 4107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376610.7"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Val166Phe",
"transcript": "ENST00000376643.7",
"protein_id": "ENSP00000365831.3",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 1215,
"cds_start": 496,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376643.7"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Val166Phe",
"transcript": "ENST00000423941.6",
"protein_id": "ENSP00000392815.2",
"transcript_support_level": 4,
"aa_start": 166,
"aa_end": null,
"aa_length": 1215,
"cds_start": 496,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423941.6"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Val166Phe",
"transcript": "ENST00000440653.2",
"protein_id": "ENSP00000394377.2",
"transcript_support_level": 4,
"aa_start": 166,
"aa_end": null,
"aa_length": 1215,
"cds_start": 496,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440653.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Val166Phe",
"transcript": "ENST00000443563.6",
"protein_id": "ENSP00000402751.2",
"transcript_support_level": 4,
"aa_start": 166,
"aa_end": null,
"aa_length": 1215,
"cds_start": 496,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443563.6"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Val166Phe",
"transcript": "ENST00000643374.2",
"protein_id": "ENSP00000496046.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 1215,
"cds_start": 496,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643374.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Val166Phe",
"transcript": "ENST00000644068.1",
"protein_id": "ENSP00000496013.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 1215,
"cds_start": 496,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644068.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Val166Phe",
"transcript": "ENST00000901894.1",
"protein_id": "ENSP00000571953.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 1215,
"cds_start": 496,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 4258,
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"revel_prediction": "Benign",
"alphamissense_score": 0.09,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.349,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001321225.2",
"gene_symbol": "HDAC6",
"hgnc_id": 14064,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.538G>T",
"hgvs_p": "p.Val180Phe"
}
],
"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
}