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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: 14-74060647-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74060647&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 74060647,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005589.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH6A1",
"gene_hgnc_id": 7179,
"hgvs_c": "c.1603C>T",
"hgvs_p": "p.Arg535Cys",
"transcript": "NM_005589.4",
"protein_id": "NP_005580.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 535,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000553458.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005589.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH6A1",
"gene_hgnc_id": 7179,
"hgvs_c": "c.1603C>T",
"hgvs_p": "p.Arg535Cys",
"transcript": "ENST00000553458.6",
"protein_id": "ENSP00000450436.1",
"transcript_support_level": 1,
"aa_start": 535,
"aa_end": null,
"aa_length": 535,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005589.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553458.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.1578+3389G>A",
"hgvs_p": null,
"transcript": "NM_025057.3",
"protein_id": "NP_079333.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": null,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394009.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025057.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.1578+3389G>A",
"hgvs_p": null,
"transcript": "ENST00000394009.5",
"protein_id": "ENSP00000377577.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": null,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025057.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394009.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH6A1",
"gene_hgnc_id": 7179,
"hgvs_c": "n.1821C>T",
"hgvs_p": null,
"transcript": "ENST00000554501.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000554501.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH6A1",
"gene_hgnc_id": 7179,
"hgvs_c": "c.1600C>T",
"hgvs_p": "p.Arg534Cys",
"transcript": "ENST00000931795.1",
"protein_id": "ENSP00000601854.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 534,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931795.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH6A1",
"gene_hgnc_id": 7179,
"hgvs_c": "c.1588C>T",
"hgvs_p": "p.Arg530Cys",
"transcript": "ENST00000901413.1",
"protein_id": "ENSP00000571472.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 530,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901413.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH6A1",
"gene_hgnc_id": 7179,
"hgvs_c": "c.1564C>T",
"hgvs_p": "p.Arg522Cys",
"transcript": "NM_001278593.2",
"protein_id": "NP_001265522.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 522,
"cds_start": 1564,
"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": "NM_001278593.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH6A1",
"gene_hgnc_id": 7179,
"hgvs_c": "c.1564C>T",
"hgvs_p": "p.Arg522Cys",
"transcript": "ENST00000350259.8",
"protein_id": "ENSP00000342564.4",
"transcript_support_level": 2,
"aa_start": 522,
"aa_end": null,
"aa_length": 522,
"cds_start": 1564,
"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": "ENST00000350259.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH6A1",
"gene_hgnc_id": 7179,
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Arg519Cys",
"transcript": "ENST00000901410.1",
"protein_id": "ENSP00000571469.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 519,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901410.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH6A1",
"gene_hgnc_id": 7179,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475Cys",
"transcript": "ENST00000901407.1",
"protein_id": "ENSP00000571466.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 475,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901407.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH6A1",
"gene_hgnc_id": 7179,
"hgvs_c": "c.1291C>T",
"hgvs_p": "p.Arg431Cys",
"transcript": "ENST00000901411.1",
"protein_id": "ENSP00000571470.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 431,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901411.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH6A1",
"gene_hgnc_id": 7179,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Cys",
"transcript": "NM_001278594.2",
"protein_id": "NP_001265523.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 381,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278594.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH6A1",
"gene_hgnc_id": 7179,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"transcript": "ENST00000901412.1",
"protein_id": "ENSP00000571471.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 374,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901412.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH6A1",
"gene_hgnc_id": 7179,
"hgvs_c": "c.1099C>T",
"hgvs_p": "p.Arg367Cys",
"transcript": "ENST00000901408.1",
"protein_id": "ENSP00000571467.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 367,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901408.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH6A1",
"gene_hgnc_id": 7179,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288Cys",
"transcript": "ENST00000901409.1",
"protein_id": "ENSP00000571468.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 288,
"cds_start": 862,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901409.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH6A1",
"gene_hgnc_id": 7179,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253Cys",
"transcript": "ENST00000960461.1",
"protein_id": "ENSP00000630520.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 253,
"cds_start": 757,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960461.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH6A1",
"gene_hgnc_id": 7179,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Cys",
"transcript": "ENST00000555126.1",
"protein_id": "ENSP00000452081.1",
"transcript_support_level": 2,
"aa_start": 252,
"aa_end": null,
"aa_length": 252,
"cds_start": 754,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555126.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.1434+3389G>A",
"hgvs_p": null,
"transcript": "ENST00000901146.1",
"protein_id": "ENSP00000571205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": null,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901146.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.939+3389G>A",
"hgvs_p": null,
"transcript": "ENST00000901145.1",
"protein_id": "ENSP00000571204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": null,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901145.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.1693+3382G>A",
"hgvs_p": null,
"transcript": "XM_011537171.3",
"protein_id": "XP_011535473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": null,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537171.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.1686+3389G>A",
"hgvs_p": null,
"transcript": "XM_011537174.3",
"protein_id": "XP_011535476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": null,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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"verdict": "Uncertain_significance",
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{
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],
"clinvar_disease": "Methylmalonate semialdehyde dehydrogenase deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Methylmalonate semialdehyde dehydrogenase deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}