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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: 5-71635176-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=71635176&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MCCC2",
"hgnc_id": 6937,
"hgvs_c": "c.929C>G",
"hgvs_p": "p.Pro310Arg",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_022132.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9038,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.57,
"chr": "5",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "3-methylcrotonyl-CoA carboxylase 2 deficiency,Autism spectrum disorder,Methylcrotonyl-CoA carboxylase deficiency",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.985858678817749,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 563,
"aa_ref": "P",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1692,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_022132.5",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.929C>G",
"hgvs_p": "p.Pro310Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340941.11",
"protein_coding": true,
"protein_id": "NP_071415.1",
"strand": true,
"transcript": "NM_022132.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 563,
"aa_ref": "P",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1692,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000340941.11",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.929C>G",
"hgvs_p": "p.Pro310Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022132.5",
"protein_coding": true,
"protein_id": "ENSP00000343657.6",
"strand": true,
"transcript": "ENST00000340941.11",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 357,
"aa_ref": "P",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1508,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1074,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000509358.7",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.929C>G",
"hgvs_p": "p.Pro310Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420994.3",
"strand": true,
"transcript": "ENST00000509358.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 325,
"aa_ref": "P",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1360,
"cdna_start": 924,
"cds_end": null,
"cds_length": 978,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000629193.3",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.815C>G",
"hgvs_p": "p.Pro272Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486535.2",
"strand": true,
"transcript": "ENST00000629193.3",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 606,
"aa_ref": "P",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3763,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1058,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000682876.1",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.1058C>G",
"hgvs_p": "p.Pro353Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508389.1",
"strand": true,
"transcript": "ENST00000682876.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 572,
"aa_ref": "P",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3700,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 1719,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000888940.1",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.929C>G",
"hgvs_p": "p.Pro310Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558999.1",
"strand": true,
"transcript": "ENST00000888940.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 570,
"aa_ref": "P",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3651,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1713,
"cds_start": 950,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000888943.1",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.950C>G",
"hgvs_p": "p.Pro317Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559002.1",
"strand": true,
"transcript": "ENST00000888943.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 560,
"aa_ref": "P",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1683,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000682727.1",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.929C>G",
"hgvs_p": "p.Pro310Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507393.1",
"strand": true,
"transcript": "ENST00000682727.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 554,
"aa_ref": "P",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1665,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000935385.1",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.929C>G",
"hgvs_p": "p.Pro310Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605444.1",
"strand": true,
"transcript": "ENST00000935385.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 553,
"aa_ref": "P",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3636,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1662,
"cds_start": 899,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000888941.1",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.899C>G",
"hgvs_p": "p.Pro300Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559000.1",
"strand": true,
"transcript": "ENST00000888941.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 553,
"aa_ref": "P",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1662,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000954856.1",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.929C>G",
"hgvs_p": "p.Pro310Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624915.1",
"strand": true,
"transcript": "ENST00000954856.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 533,
"aa_ref": "P",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3528,
"cdna_start": 959,
"cds_end": null,
"cds_length": 1602,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000683403.1",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.839C>G",
"hgvs_p": "p.Pro280Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507896.1",
"strand": true,
"transcript": "ENST00000683403.1",
"transcript_support_level": null
},
{
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"aa_length": 525,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3510,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1578,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001363147.1",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.815C>G",
"hgvs_p": "p.Pro272Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350076.1",
"strand": true,
"transcript": "NM_001363147.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 525,
"aa_ref": "P",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3574,
"cdna_start": 965,
"cds_end": null,
"cds_length": 1578,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000683789.1",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.815C>G",
"hgvs_p": "p.Pro272Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507012.1",
"strand": true,
"transcript": "ENST00000683789.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 522,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3543,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1569,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000888942.1",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.815C>G",
"hgvs_p": "p.Pro272Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559001.1",
"strand": true,
"transcript": "ENST00000888942.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 515,
"aa_ref": "P",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 864,
"cds_end": null,
"cds_length": 1548,
"cds_start": 785,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000682045.1",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.785C>G",
"hgvs_p": "p.Pro262Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507329.1",
"strand": true,
"transcript": "ENST00000682045.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 491,
"aa_ref": "P",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3378,
"cdna_start": 769,
"cds_end": null,
"cds_length": 1476,
"cds_start": 713,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000683339.1",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.713C>G",
"hgvs_p": "p.Pro238Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507758.1",
"strand": true,
"transcript": "ENST00000683339.1",
"transcript_support_level": null
},
{
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"aa_length": 432,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3433,
"cdna_start": 839,
"cds_end": null,
"cds_length": 1299,
"cds_start": 536,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000682214.1",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Pro179Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507336.1",
"strand": true,
"transcript": "ENST00000682214.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": 909,
"cds_end": null,
"cds_length": 1299,
"cds_start": 536,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000683429.1",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Pro179Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507697.1",
"strand": true,
"transcript": "ENST00000683429.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 394,
"aa_ref": "P",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3422,
"cdna_start": 851,
"cds_end": null,
"cds_length": 1185,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000681968.1",
"gene_hgnc_id": 6937,
"gene_symbol": "MCCC2",
"hgvs_c": "c.422C>G",
"hgvs_p": "p.Pro141Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508143.1",
"strand": true,
"transcript": "ENST00000681968.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 363,
"aa_ref": "P",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2110,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1092,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000683665.1",
"gene_hgnc_id": 6937,
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}
]
}