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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: 3-128910144-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=128910144&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 128910144,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000308982.12",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1687C>G",
"hgvs_p": "p.His563Asp",
"transcript": "NM_014049.5",
"protein_id": "NP_054768.2",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 621,
"cds_start": 1687,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": "ENST00000308982.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1687C>G",
"hgvs_p": "p.His563Asp",
"transcript": "ENST00000308982.12",
"protein_id": "ENSP00000312618.7",
"transcript_support_level": 1,
"aa_start": 563,
"aa_end": null,
"aa_length": 621,
"cds_start": 1687,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": "NM_014049.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.1220C>G",
"hgvs_p": null,
"transcript": "ENST00000511526.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP92",
"gene_hgnc_id": 29231,
"hgvs_c": "c.*155G>C",
"hgvs_p": null,
"transcript": "NM_001394090.1",
"protein_id": "NP_001381019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1104,
"cds_start": -4,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3870,
"mane_select": "ENST00000645291.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP92",
"gene_hgnc_id": 29231,
"hgvs_c": "c.*155G>C",
"hgvs_p": null,
"transcript": "ENST00000645291.3",
"protein_id": "ENSP00000496592.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1104,
"cds_start": -4,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3870,
"mane_select": "NM_001394090.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1687C>G",
"hgvs_p": "p.His563Asp",
"transcript": "ENST00000681367.1",
"protein_id": "ENSP00000505309.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 643,
"cds_start": 1687,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1781C>G",
"hgvs_p": "p.Pro594Arg",
"transcript": "ENST00000680636.1",
"protein_id": "ENSP00000504886.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 626,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1318C>G",
"hgvs_p": "p.His440Asp",
"transcript": "NM_001410805.1",
"protein_id": "NP_001397734.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 498,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1318C>G",
"hgvs_p": "p.His440Asp",
"transcript": "ENST00000679715.1",
"protein_id": "ENSP00000506228.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 498,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 3067,
"cdna_end": null,
"cdna_length": 3748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.1318C>G",
"hgvs_p": "p.His440Asp",
"transcript": "XM_024453484.2",
"protein_id": "XP_024309252.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 498,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 2244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*1487C>G",
"hgvs_p": null,
"transcript": "ENST00000505867.5",
"protein_id": "ENSP00000425346.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.976C>G",
"hgvs_p": null,
"transcript": "ENST00000508971.1",
"protein_id": "ENSP00000422683.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*1581C>G",
"hgvs_p": null,
"transcript": "ENST00000511227.5",
"protein_id": "ENSP00000425226.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.2364C>G",
"hgvs_p": null,
"transcript": "ENST00000511325.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*1858C>G",
"hgvs_p": null,
"transcript": "ENST00000679399.1",
"protein_id": "ENSP00000505434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*1563C>G",
"hgvs_p": null,
"transcript": "ENST00000679431.1",
"protein_id": "ENSP00000506440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.1687C>G",
"hgvs_p": null,
"transcript": "ENST00000679613.1",
"protein_id": "ENSP00000504971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*2993C>G",
"hgvs_p": null,
"transcript": "ENST00000679824.1",
"protein_id": "ENSP00000505516.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.2521C>G",
"hgvs_p": null,
"transcript": "ENST00000679990.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.2039C>G",
"hgvs_p": null,
"transcript": "ENST00000680638.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*1040C>G",
"hgvs_p": null,
"transcript": "ENST00000680744.1",
"protein_id": "ENSP00000505243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*3091C>G",
"hgvs_p": null,
"transcript": "ENST00000680764.1",
"protein_id": "ENSP00000505126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.2473C>G",
"hgvs_p": null,
"transcript": "ENST00000681319.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.685,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4583,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.856,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000308982.12",
"gene_symbol": "ACAD9",
"hgnc_id": 21497,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1687C>G",
"hgvs_p": "p.His563Asp"
},
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000645291.3",
"gene_symbol": "CFAP92",
"hgnc_id": 29231,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*155G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Acyl-CoA dehydrogenase 9 deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Acyl-CoA dehydrogenase 9 deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}