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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: 22-40361550-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=40361550&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADSL",
"hgnc_id": 291,
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Arg309Cys",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001410812.1",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000284431",
"hgnc_id": null,
"hgvs_c": "n.*621C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000639722.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 62,
"alphamissense_prediction": null,
"alphamissense_score": 0.8704,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.35,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Adenylosuccinate lyase deficiency,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9284156560897827,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4359,
"cdna_start": 984,
"cds_end": null,
"cds_length": 1455,
"cds_start": 925,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000026.4",
"gene_hgnc_id": 291,
"gene_symbol": "ADSL",
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Arg309Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000623063.3",
"protein_coding": true,
"protein_id": "NP_000017.1",
"strand": true,
"transcript": "NM_000026.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4359,
"cdna_start": 984,
"cds_end": null,
"cds_length": 1455,
"cds_start": 925,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000623063.3",
"gene_hgnc_id": 291,
"gene_symbol": "ADSL",
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Arg309Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000026.4",
"protein_coding": true,
"protein_id": "ENSP00000485525.1",
"strand": true,
"transcript": "ENST00000623063.3",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 425,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1808,
"cdna_start": 981,
"cds_end": null,
"cds_length": 1278,
"cds_start": 925,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000342312.9",
"gene_hgnc_id": 291,
"gene_symbol": "ADSL",
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Arg309Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341429.6",
"strand": true,
"transcript": "ENST00000342312.9",
"transcript_support_level": 1
},
{
"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": 2135,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000480775.3",
"gene_hgnc_id": 291,
"gene_symbol": "ADSL",
"hgvs_c": "n.*288C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000485462.2",
"strand": true,
"transcript": "ENST00000480775.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4563,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000639722.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000284431",
"hgvs_c": "n.*621C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492828.1",
"strand": true,
"transcript": "ENST00000639722.1",
"transcript_support_level": 5
},
{
"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": 2135,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000480775.3",
"gene_hgnc_id": 291,
"gene_symbol": "ADSL",
"hgvs_c": "n.*288C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000485462.2",
"strand": true,
"transcript": "ENST00000480775.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4563,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 31,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000639722.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000284431",
"hgvs_c": "n.*621C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492828.1",
"strand": true,
"transcript": "ENST00000639722.1",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 526,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3389,
"cdna_start": 984,
"cds_end": null,
"cds_length": 1581,
"cds_start": 925,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001410812.1",
"gene_hgnc_id": 291,
"gene_symbol": "ADSL",
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Arg309Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397741.1",
"strand": true,
"transcript": "NM_001410812.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 526,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": 984,
"cds_end": null,
"cds_length": 1581,
"cds_start": 925,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000680978.1",
"gene_hgnc_id": 291,
"gene_symbol": "ADSL",
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Arg309Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505244.1",
"strand": true,
"transcript": "ENST00000680978.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 513,
"aa_ref": "R",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1989,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1012,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000680378.1",
"gene_hgnc_id": 291,
"gene_symbol": "ADSL",
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Arg338Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505556.1",
"strand": true,
"transcript": "ENST00000680378.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 505,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1518,
"cds_start": 925,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000969089.1",
"gene_hgnc_id": 291,
"gene_symbol": "ADSL",
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Arg309Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639148.1",
"strand": true,
"transcript": "ENST00000969089.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 498,
"aa_ref": "R",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1620,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1497,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000216194.11",
"gene_hgnc_id": 291,
"gene_symbol": "ADSL",
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000216194.8",
"strand": true,
"transcript": "ENST00000216194.11",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 498,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2002,
"cdna_start": 984,
"cds_end": null,
"cds_length": 1497,
"cds_start": 925,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000625194.4",
"gene_hgnc_id": 291,
"gene_symbol": "ADSL",
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Arg309Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485289.2",
"strand": true,
"transcript": "ENST00000625194.4",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 497,
"aa_ref": "R",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1494,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000932040.1",
"gene_hgnc_id": 291,
"gene_symbol": "ADSL",
"hgvs_c": "c.964C>T",
"hgvs_p": "p.Arg322Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602099.1",
"strand": true,
"transcript": "ENST00000932040.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1484,
"cdna_start": 880,
"cds_end": null,
"cds_length": 1452,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000892511.1",
"gene_hgnc_id": 291,
"gene_symbol": "ADSL",
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Arg294Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562570.1",
"strand": true,
"transcript": "ENST00000892511.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 482,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1481,
"cdna_start": 925,
"cds_end": null,
"cds_length": 1449,
"cds_start": 925,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000892512.1",
"gene_hgnc_id": 291,
"gene_symbol": "ADSL",
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Arg309Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562571.1",
"strand": true,
"transcript": "ENST00000892512.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 481,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1939,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1446,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000969087.1",
"gene_hgnc_id": 291,
"gene_symbol": "ADSL",
"hgvs_c": "c.916C>T",
"hgvs_p": "p.Arg306Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639146.1",
"strand": true,
"transcript": "ENST00000969087.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 984,
"cds_end": null,
"cds_length": 1443,
"cds_start": 925,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001363840.3",
"gene_hgnc_id": 291,
"gene_symbol": "ADSL",
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Arg309Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350769.1",
"strand": true,
"transcript": "NM_001363840.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1734,
"cdna_start": 970,
"cds_end": null,
"cds_length": 1443,
"cds_start": 925,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000636714.1",
"gene_hgnc_id": 291,
"gene_symbol": "ADSL",
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Arg309Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490946.1",
"strand": true,
"transcript": "ENST00000636714.1",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1442,
"cdna_start": 925,
"cds_end": null,
"cds_length": 1422,
"cds_start": 925,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000892515.1",
"gene_hgnc_id": 291,
"gene_symbol": "ADSL",
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Arg309Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562574.1",
"strand": true,
"transcript": "ENST00000892515.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 472,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1906,
"cdna_start": 955,
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{
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],
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"dbsnp": "rs376357524",
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"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided|Adenylosuccinate lyase deficiency|Inborn genetic diseases",
"phylop100way_prediction": "Uncertain_significance",
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"splice_source_selected": "max_spliceai",
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}
]
}