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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: 16-67658575-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67658575&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67658575,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000620761.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.809C>T",
"hgvs_p": "p.Pro270Leu",
"transcript": "NM_001082486.2",
"protein_id": "NP_001075955.2",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 458,
"cds_start": 809,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1511,
"mane_select": "ENST00000620761.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.809C>T",
"hgvs_p": "p.Pro270Leu",
"transcript": "ENST00000620761.6",
"protein_id": "ENSP00000478084.1",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 458,
"cds_start": 809,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1511,
"mane_select": "NM_001082486.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.809C>T",
"hgvs_p": "p.Pro270Leu",
"transcript": "ENST00000695659.1",
"protein_id": "ENSP00000512089.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 464,
"cds_start": 809,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Pro267Leu",
"transcript": "NM_022914.3",
"protein_id": "NP_075065.3",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 455,
"cds_start": 800,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Pro267Leu",
"transcript": "ENST00000219251.13",
"protein_id": "ENSP00000219251.8",
"transcript_support_level": 2,
"aa_start": 267,
"aa_end": null,
"aa_length": 455,
"cds_start": 800,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Pro264Leu",
"transcript": "ENST00000695648.1",
"protein_id": "ENSP00000512081.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 452,
"cds_start": 791,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 1442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.809C>T",
"hgvs_p": "p.Pro270Leu",
"transcript": "ENST00000695734.1",
"protein_id": "ENSP00000512127.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 451,
"cds_start": 809,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.764C>T",
"hgvs_p": "p.Pro255Leu",
"transcript": "ENST00000695694.1",
"protein_id": "ENSP00000512105.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 443,
"cds_start": 764,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 1466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Pro267Leu",
"transcript": "ENST00000602320.1",
"protein_id": "ENSP00000473679.2",
"transcript_support_level": 5,
"aa_start": 267,
"aa_end": null,
"aa_length": 442,
"cds_start": 800,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.809C>T",
"hgvs_p": "p.Pro270Leu",
"transcript": "ENST00000695658.1",
"protein_id": "ENSP00000512088.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 399,
"cds_start": 809,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.809C>T",
"hgvs_p": "p.Pro270Leu",
"transcript": "ENST00000602382.6",
"protein_id": "ENSP00000473313.2",
"transcript_support_level": 5,
"aa_start": 270,
"aa_end": null,
"aa_length": 334,
"cds_start": 809,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.1299C>T",
"hgvs_p": null,
"transcript": "ENST00000602519.2",
"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": 1388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.1616C>T",
"hgvs_p": null,
"transcript": "ENST00000602622.5",
"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": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.1622C>T",
"hgvs_p": null,
"transcript": "ENST00000602780.2",
"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": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.*589C>T",
"hgvs_p": null,
"transcript": "ENST00000602850.6",
"protein_id": "ENSP00000473595.3",
"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": 1118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.1729C>T",
"hgvs_p": null,
"transcript": "ENST00000602860.6",
"protein_id": null,
"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": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.1726C>T",
"hgvs_p": null,
"transcript": "ENST00000695641.1",
"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": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.1818C>T",
"hgvs_p": null,
"transcript": "ENST00000695649.1",
"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": 2167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.1445C>T",
"hgvs_p": null,
"transcript": "ENST00000695656.1",
"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": 2498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.1433C>T",
"hgvs_p": null,
"transcript": "ENST00000695660.1",
"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": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.*288C>T",
"hgvs_p": null,
"transcript": "ENST00000695661.1",
"protein_id": "ENSP00000512090.1",
"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": 821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.*288C>T",
"hgvs_p": null,
"transcript": "ENST00000695662.1",
"protein_id": "ENSP00000512091.1",
"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": 1439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.875C>T",
"hgvs_p": null,
"transcript": "ENST00000695695.1",
"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": 1471,
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{
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},
{
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}
],
"gene_symbol": "ACD",
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"dbsnp": "rs1035052101",
"frequency_reference_population": 0.000019104971,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
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"gnomad_genomes_af": 0.0000131444,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.071990966796875,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.2199999988079071,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.0895,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.337,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.22,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000620761.6",
"gene_symbol": "ACD",
"hgnc_id": 25070,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.809C>T",
"hgvs_p": "p.Pro270Leu"
}
],
"clinvar_disease": " autosomal dominant 6,Dyskeratosis congenita,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Dyskeratosis congenita, autosomal dominant 6|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}