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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: 3-9867295-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9867295&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"effects": [
"stop_gained",
"splice_region_variant"
],
"gene_symbol": "CIDEC",
"hgnc_id": 24229,
"hgvs_c": "c.595G>T",
"hgvs_p": "p.Glu199*",
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001199623.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000308530",
"hgnc_id": null,
"hgvs_c": "n.321+2584C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000834810.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.133,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "3",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "CIDEC-related familial partial lipodystrophy",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1550000011920929,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1305,
"cdna_start": 724,
"cds_end": null,
"cds_length": 717,
"cds_start": 556,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001321142.2",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.556G>T",
"hgvs_p": "p.Glu186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000336832.7",
"protein_coding": true,
"protein_id": "NP_001308071.1",
"strand": false,
"transcript": "NM_001321142.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1305,
"cdna_start": 724,
"cds_end": null,
"cds_length": 717,
"cds_start": 556,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000336832.7",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.556G>T",
"hgvs_p": "p.Glu186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001321142.2",
"protein_coding": true,
"protein_id": "ENSP00000338642.2",
"strand": false,
"transcript": "ENST00000336832.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 251,
"aa_ref": "E",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1199,
"cdna_start": 615,
"cds_end": null,
"cds_length": 756,
"cds_start": 595,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000383817.5",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.595G>T",
"hgvs_p": "p.Glu199*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000373328.2",
"strand": false,
"transcript": "ENST00000383817.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 164,
"aa_ref": "E",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1153,
"cdna_start": 572,
"cds_end": null,
"cds_length": 495,
"cds_start": 334,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000455015.6",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.334G>T",
"hgvs_p": "p.Glu112*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392975.1",
"strand": false,
"transcript": "ENST00000455015.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 133,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 443,
"cdna_start": 211,
"cds_end": null,
"cds_length": 402,
"cds_start": 209,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000443115.1",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Gly70Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411356.1",
"strand": false,
"transcript": "ENST00000443115.1",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 251,
"aa_ref": "E",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1196,
"cdna_start": 615,
"cds_end": null,
"cds_length": 756,
"cds_start": 595,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001199623.2",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.595G>T",
"hgvs_p": "p.Glu199*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186552.1",
"strand": false,
"transcript": "NM_001199623.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 248,
"aa_ref": "E",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1222,
"cdna_start": 641,
"cds_end": null,
"cds_length": 747,
"cds_start": 586,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001199551.2",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Glu196*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186480.1",
"strand": false,
"transcript": "NM_001199551.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 248,
"aa_ref": "E",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1214,
"cdna_start": 633,
"cds_end": null,
"cds_length": 747,
"cds_start": 586,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000430427.6",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Glu196*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408631.1",
"strand": false,
"transcript": "ENST00000430427.6",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 248,
"aa_ref": "E",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1226,
"cdna_start": 642,
"cds_end": null,
"cds_length": 747,
"cds_start": 586,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000618572.4",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Glu196*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483641.1",
"strand": false,
"transcript": "ENST00000618572.4",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 248,
"aa_ref": "E",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1339,
"cdna_start": 757,
"cds_end": null,
"cds_length": 747,
"cds_start": 586,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000949780.1",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Glu196*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619839.1",
"strand": false,
"transcript": "ENST00000949780.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 248,
"aa_ref": "E",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1229,
"cdna_start": 645,
"cds_end": null,
"cds_length": 747,
"cds_start": 586,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000949784.1",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Glu196*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619843.1",
"strand": false,
"transcript": "ENST00000949784.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1192,
"cdna_start": 611,
"cds_end": null,
"cds_length": 717,
"cds_start": 556,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001199552.2",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.556G>T",
"hgvs_p": "p.Glu186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186481.1",
"strand": false,
"transcript": "NM_001199552.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1231,
"cdna_start": 650,
"cds_end": null,
"cds_length": 717,
"cds_start": 556,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001378491.1",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.556G>T",
"hgvs_p": "p.Glu186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365420.1",
"strand": false,
"transcript": "NM_001378491.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1281,
"cdna_start": 696,
"cds_end": null,
"cds_length": 717,
"cds_start": 556,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_022094.3",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.556G>T",
"hgvs_p": "p.Glu186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_071377.2",
"strand": false,
"transcript": "NM_022094.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1192,
"cdna_start": 611,
"cds_end": null,
"cds_length": 717,
"cds_start": 556,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000675828.1",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.556G>T",
"hgvs_p": "p.Glu186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502377.1",
"strand": false,
"transcript": "ENST00000675828.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1231,
"cdna_start": 650,
"cds_end": null,
"cds_length": 717,
"cds_start": 556,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000679265.1",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.556G>T",
"hgvs_p": "p.Glu186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504614.1",
"strand": false,
"transcript": "ENST00000679265.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1287,
"cdna_start": 702,
"cds_end": null,
"cds_length": 717,
"cds_start": 556,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000879588.1",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.556G>T",
"hgvs_p": "p.Glu186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549647.1",
"strand": false,
"transcript": "ENST00000879588.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1292,
"cdna_start": 712,
"cds_end": null,
"cds_length": 717,
"cds_start": 556,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000949781.1",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.556G>T",
"hgvs_p": "p.Glu186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619840.1",
"strand": false,
"transcript": "ENST00000949781.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1327,
"cdna_start": 744,
"cds_end": null,
"cds_length": 717,
"cds_start": 556,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000949782.1",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.556G>T",
"hgvs_p": "p.Glu186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619841.1",
"strand": false,
"transcript": "ENST00000949782.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1258,
"cdna_start": 674,
"cds_end": null,
"cds_length": 717,
"cds_start": 556,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000949783.1",
"gene_hgnc_id": 24229,
"gene_symbol": "CIDEC",
"hgvs_c": "c.556G>T",
"hgvs_p": "p.Glu186*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
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