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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: 5-71656746-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=71656746&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 71656746,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_022132.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1578A>G",
"hgvs_p": "p.Val526Val",
"transcript": "NM_022132.5",
"protein_id": "NP_071415.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 563,
"cds_start": 1578,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340941.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022132.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1578A>G",
"hgvs_p": "p.Val526Val",
"transcript": "ENST00000340941.11",
"protein_id": "ENSP00000343657.6",
"transcript_support_level": 1,
"aa_start": 526,
"aa_end": null,
"aa_length": 563,
"cds_start": 1578,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022132.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340941.11"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1707A>G",
"hgvs_p": "p.Val569Val",
"transcript": "ENST00000682876.1",
"protein_id": "ENSP00000508389.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 606,
"cds_start": 1707,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682876.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1605A>G",
"hgvs_p": "p.Val535Val",
"transcript": "ENST00000888940.1",
"protein_id": "ENSP00000558999.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 572,
"cds_start": 1605,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888940.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1599A>G",
"hgvs_p": "p.Val533Val",
"transcript": "ENST00000888943.1",
"protein_id": "ENSP00000559002.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 570,
"cds_start": 1599,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888943.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1569A>G",
"hgvs_p": "p.Val523Val",
"transcript": "ENST00000682727.1",
"protein_id": "ENSP00000507393.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 560,
"cds_start": 1569,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682727.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1551A>G",
"hgvs_p": "p.Val517Val",
"transcript": "ENST00000935385.1",
"protein_id": "ENSP00000605444.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 554,
"cds_start": 1551,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935385.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1548A>G",
"hgvs_p": "p.Val516Val",
"transcript": "ENST00000888941.1",
"protein_id": "ENSP00000559000.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 553,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888941.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1548A>G",
"hgvs_p": "p.Val516Val",
"transcript": "ENST00000954856.1",
"protein_id": "ENSP00000624915.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 553,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954856.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1488A>G",
"hgvs_p": "p.Val496Val",
"transcript": "ENST00000683403.1",
"protein_id": "ENSP00000507896.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 533,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683403.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1464A>G",
"hgvs_p": "p.Val488Val",
"transcript": "NM_001363147.1",
"protein_id": "NP_001350076.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 525,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363147.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1464A>G",
"hgvs_p": "p.Val488Val",
"transcript": "ENST00000683789.1",
"protein_id": "ENSP00000507012.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 525,
"cds_start": 1464,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683789.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1455A>G",
"hgvs_p": "p.Val485Val",
"transcript": "ENST00000888942.1",
"protein_id": "ENSP00000559001.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 522,
"cds_start": 1455,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888942.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1434A>G",
"hgvs_p": "p.Val478Val",
"transcript": "ENST00000682045.1",
"protein_id": "ENSP00000507329.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 515,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682045.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1362A>G",
"hgvs_p": "p.Val454Val",
"transcript": "ENST00000683339.1",
"protein_id": "ENSP00000507758.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 491,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683339.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1185A>G",
"hgvs_p": "p.Val395Val",
"transcript": "ENST00000682214.1",
"protein_id": "ENSP00000507336.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 432,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682214.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1185A>G",
"hgvs_p": "p.Val395Val",
"transcript": "ENST00000683429.1",
"protein_id": "ENSP00000507697.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 432,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683429.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.1071A>G",
"hgvs_p": "p.Val357Val",
"transcript": "ENST00000681968.1",
"protein_id": "ENSP00000508143.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 394,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681968.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.744A>G",
"hgvs_p": "p.Val248Val",
"transcript": "ENST00000684310.1",
"protein_id": "ENSP00000507550.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 285,
"cds_start": 744,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684310.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "c.696A>G",
"hgvs_p": "p.Val232Val",
"transcript": "ENST00000684530.1",
"protein_id": "ENSP00000507439.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 269,
"cds_start": 696,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684530.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "n.3186A>G",
"hgvs_p": null,
"transcript": "ENST00000505435.4",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000505435.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"hgvs_c": "n.3409A>G",
"hgvs_p": null,
"transcript": "ENST00000505787.8",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000505787.8"
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{
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{
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{
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],
"gene_symbol": "MCCC2",
"gene_hgnc_id": 6937,
"dbsnp": "rs114527907",
"frequency_reference_population": 0.0017450211,
"hom_count_reference_population": 48,
"allele_count_reference_population": 2814,
"gnomad_exomes_af": 0.000912787,
"gnomad_genomes_af": 0.00972896,
"gnomad_exomes_ac": 1333,
"gnomad_genomes_ac": 1481,
"gnomad_exomes_homalt": 18,
"gnomad_genomes_homalt": 30,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.436,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_022132.5",
"gene_symbol": "MCCC2",
"hgnc_id": 6937,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1578A>G",
"hgvs_p": "p.Val526Val"
}
],
"clinvar_disease": "3-methylcrotonyl-CoA carboxylase 2 deficiency,Methylcrotonyl-CoA carboxylase deficiency,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Methylcrotonyl-CoA carboxylase deficiency|3-methylcrotonyl-CoA carboxylase 2 deficiency|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}