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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-72572742-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=72572742&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HDAC8",
"hgnc_id": 13315,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"inheritance_mode": "XL,AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001410725.1",
"verdict": "Benign"
},
{
"benign_score": 8,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000285547",
"hgnc_id": null,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -8,
"transcript": "ENST00000648922.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS1,BS2",
"acmg_score": -12,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.0725,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "X",
"clinvar_classification": "Benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07886725664138794,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1754,
"cdna_start": 102,
"cds_end": null,
"cds_length": 1134,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_018486.3",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373573.9",
"protein_coding": true,
"protein_id": "NP_060956.1",
"strand": false,
"transcript": "NM_018486.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1754,
"cdna_start": 102,
"cds_end": null,
"cds_length": 1134,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000373573.9",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018486.3",
"protein_coding": true,
"protein_id": "ENSP00000362674.3",
"strand": false,
"transcript": "ENST00000373573.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 555,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": 102,
"cds_end": null,
"cds_length": 1670,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000648922.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285547",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497072.1",
"strand": false,
"transcript": "ENST00000648922.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 687,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000412342.6",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "n.20C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000400180.1",
"strand": false,
"transcript": "ENST00000412342.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 128,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 552,
"cdna_start": null,
"cds_end": null,
"cds_length": 388,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000421523.6",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "c.-97C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398997.2",
"strand": false,
"transcript": "ENST00000421523.6",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 417,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1625,
"cdna_start": 101,
"cds_end": null,
"cds_length": 1254,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000373568.7",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362669.3",
"strand": false,
"transcript": "ENST00000373568.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 414,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": 124,
"cds_end": null,
"cds_length": 1245,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000648452.1",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497268.1",
"strand": false,
"transcript": "ENST00000648452.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 403,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1832,
"cdna_start": 102,
"cds_end": null,
"cds_length": 1212,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001410725.1",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397654.1",
"strand": false,
"transcript": "NM_001410725.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 403,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 118,
"cds_end": null,
"cds_length": 1212,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000647886.1",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497188.1",
"strand": false,
"transcript": "ENST00000647886.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 392,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 102,
"cds_end": null,
"cds_length": 1179,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000881225.1",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551284.1",
"strand": false,
"transcript": "ENST00000881225.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 75,
"cds_end": null,
"cds_length": 1134,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000881229.1",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551288.1",
"strand": false,
"transcript": "ENST00000881229.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 376,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1774,
"cdna_start": 125,
"cds_end": null,
"cds_length": 1131,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
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"feature": "ENST00000925427.1",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595486.1",
"strand": false,
"transcript": "ENST00000925427.1",
"transcript_support_level": null
},
{
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"aa_length": 375,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1700,
"cdna_start": 106,
"cds_end": null,
"cds_length": 1128,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000647980.1",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498002.1",
"strand": false,
"transcript": "ENST00000647980.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 373,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 124,
"cds_end": null,
"cds_length": 1122,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000647594.1",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496814.1",
"strand": false,
"transcript": "ENST00000647594.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 373,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 102,
"cds_end": null,
"cds_length": 1122,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000647859.1",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497530.1",
"strand": false,
"transcript": "ENST00000647859.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 351,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1676,
"cdna_start": 102,
"cds_end": null,
"cds_length": 1056,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001410727.1",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397656.1",
"strand": false,
"transcript": "NM_001410727.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 351,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 136,
"cds_end": null,
"cds_length": 1056,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000373583.6",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362685.2",
"strand": false,
"transcript": "ENST00000373583.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
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"aa_length": 350,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5689,
"cdna_start": 102,
"cds_end": null,
"cds_length": 1053,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000648298.1",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496866.1",
"strand": false,
"transcript": "ENST00000648298.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 344,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1274,
"cdna_start": 102,
"cds_end": null,
"cds_length": 1035,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000415409.6",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396424.2",
"strand": false,
"transcript": "ENST00000415409.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 337,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4155,
"cdna_start": 115,
"cds_end": null,
"cds_length": 1014,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000648870.1",
"gene_hgnc_id": 13315,
"gene_symbol": "HDAC8",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497599.1",
"strand": false,
"transcript": "ENST00000648870.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 317,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1220,
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